Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2 (English)
- New search for: Robinson-White, A.
- New search for: Hundley, T. R.
- New search for: Shiferaw, M.
- New search for: Bertherat, J.
- New search for: Sandrini, F.
- New search for: Stratakis, C. A.
- New search for: Robinson-White, A.
- New search for: Hundley, T. R.
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In:
HUMAN MOLECULAR GENETICS
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12
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1475-1484
;
2003
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ISSN:
- Article (Journal) / Print
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Title:Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2
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Contributors:Robinson-White, A. ( author ) / Hundley, T. R. ( author ) / Shiferaw, M. ( author ) / Bertherat, J. ( author ) / Sandrini, F. ( author ) / Stratakis, C. A. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 12 ; 1475-1484
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Publisher:
- New search for: Oxford University Press
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Publication date:2003-01-01
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Size:10 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 12
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Cell death triggered by polyglutamine-expanded huntingin in a neuronal cell line is associated with degradation of CREB-binding proteinJiang, H. / Nucifora, F. C. / Ross, C. A. / DeFranco, D. B. et al. | 2003
- 13
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Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potentialTeubner, B. / Michel, V. / Pesch, J. / Lautermann, J. / Cohen-Salmon, M. / Sohl, G. / Jahnke, K. / Winterhager, E. / Herberhold, C. / Hardelin, J.-P. et al. | 2003
- 23
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Results of a high-resolution genome screen of 437 Alzheimer's Disease familiesBlacker, D. / Bertram, L. / Saunders, A. J. / Moscarillo, T. J. / Albert, M. S. / Wiener, H. / Perry, R. T. / Collins, J. S. / Harrell, L. E. / Go, R. C. P. et al. | 2003
- 33
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Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II regionKauppi, L. / Sajantila, A. / Jeffreys, A. J. et al. | 2003
- 41
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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in trasgenic miceLibby, R. T. / Monckton, D. G. / Fu, Y.-H. / Martinez, R. A. / McAbney, J. P. / Lau, R. / Einum, D. D. / Nichol, K. / Ware, C. B. / Ptacek, L. J. et al. | 2003
- 51
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The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different historiesVarilo, T. / Paunio, T. / Parker, A. / Perola, M. / Meyer, J. / Terwilliger, J. D. / Peltonen, L. et al. | 2003
- 61
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Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomalyShultz, L. D. / Lyons, B. L. / Burzenski, L. M. / Gott, B. / Samuels, R. / Schweitzer, P. A. / Dreger, C. / Herrmann, H. / Kalscheuer, V. / Olins, A. L. et al. | 2003
- 71
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Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleusCharvin, D. / Cifuentes-Diaz, C. / Fonknechten, N. / Joshi, V. / Hazan, J. / Melki, J. / Betuing, S. et al. | 2003
- 79
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Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control studyLevecque, C. / Elbaz, A. / Clavel, J. / Richard, F. / Vidal, J.-S. / Amouyel, P. / Tzourio, C. / Alperovitch, A. / Chartier-Harlin, M.-C. et al. | 2003
- 87
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Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouseMurdoch, J. N. / Henderson, D. J. / Doudney, K. / Gaston-Massuet, C. / Phillips, H. M. / Paternotte, C. / Arkell, R. / Stanier, P. / Copp, A. J. et al. | 2003
- 99
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Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codonsLamba, J. K. / Adachi, M. / Sun, D. / Tammur, J. / Schuetz, E. G. / Allikmets, R. / Schuetz, J. D. et al. | 2003
- 111
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Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629C→A polymorphism and a novel promoter variant are independently associated with CETP concentrationKlerkx, A. H. E. M. / Tanck, M. W. T. / Kastelein, J. J. P. / Molhuizen, H. O. F. / Jukema, J. W. / Zwinderman, A. H. / Kuivenhoven, J. A. et al. | 2003
- 125
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Characterization and quantitation of differential Tsix transcripts: implications for Tsix functionShibata, S. / Lee, J. T. et al. | 2003
- 137
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Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigreeNewman, D. L. / Abney, M. / Dytch, H. / Parry, R. / McPeek, M. S. / Ober, C. et al. | 2003
- 145
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Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutationsLubrano-Berthelier, C. / Durand, E. / Dubern, B. / Shapiro, A. / Dazin, P. / Weill, J. / Ferron, C. / Froguel, P. / Vaisse, C. et al. | 2003
- 155
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Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signalingRosenberger, G. / Jantke, I. / Gal, A. / Kutsche, K. et al. | 2003
- 169
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Human BOULE gene rescues meiotic defects in infertile fliesXu, E. Y. / Lee, D. F. / Klebes, A. / Turek, P. J. / Kornberg, T. B. / Pera, R. A. R. et al. | 2003
- 177
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A central role of interferon regulatory factor-1 for the limitation of neointimal hyperplasiaWessely, R. / Hengst, L. / Jaschke, B. / Wegener, F. / Richter, T. / Lupetti, R. / Paschalidis, M. / Schomig, A. / Brandl, R. / Neumann, F.-J. et al. | 2003
- 189
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Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assemblySalmikangas, P. / van der Ven, P. F. M. / Lalowski, M. / Taivainen, A. / Zhao, F. / Suila, H. / Schroder, R. / Lappalainen, P. / Furst, D. O. / Carpen, O. et al. | 2003
- 205
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Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptorDuan, J. / Wainwright, M. S. / Comeron, J. M. / Saitou, N. / Sanders, A. R. / Gelernter, J. / Gejman, P. V. et al. | 2003
- 217
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Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilageBateman, J. F. / Freddi, S. / Nattrass, G. / Savarirayan, R. et al. | 2003
- 227
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Role of oxidative stress in telomere shortening in eultured fibroblasts from normal individuals and patients with ataxia-telangiectasiaTchirkov, A. / Lansdorp, P. M. et al. | 2003
- 233
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Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3Kim, J. / Kollhoff, A. / Bergmann, A. / Stubbs, L. et al. | 2003
- 247
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ETS2 overexpression in transgenic models and in Down syndrome predisposes to apoptosis via the p53 pathwayWolvetang, E. J. / Wilson, T. J. / Sanij, E. / Busciglio, J. / Hatzistavrou, T. / Seth, A. / Hertzog, P. J. / Kola, I. et al. | 2003
- 257
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Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C diseaseBlom, T. S. / Linder, M. D. / Snow, K. / Pihko, H. / Hess, M. W. / Jokitalo, E. / Veckman, V. / Syvanen, A.-C. / Ikonen, E. et al. | 2003
- 273
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Mismatch repair gene Msh2 modifies the timing of early disease in Hdh^Q^I^I^I striatumWheeler, V. C. / Lebel, L.-A. / Vrbanac, V. / Teed, A. / Riele, H. t. / MacDonald, M. E. et al. | 2003
- 283
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A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencerMancini-DiNardo, D. / Steele, S. J. S. / Ingram, R. S. / Tilghman, S. M. et al. | 2003
- 295
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Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactionsLopes, S. / Lewis, A. / Hajkova, P. / Dean, W. / Oswald, J. / Forne, T. / Murrell, A. / Constancia, M. / Bartolomei, M. / Walter, J. et al. | 2003
- 307
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Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteinsCaldwell, G. A. / Cao, S. / Sexton, E. G. / Gelwix, C. C. / Bevel, J. P. / Caldwell, K. A. et al. | 2003
- 321
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An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondriaHortnagel, K. / Prokisch, H. / Meitinger, T. et al. | 2003
- 329
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An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNAAcin-Perez, R. / Bayona-Bafaluy, M. P. / Bueno, M. / Machicado, C. / Fernandez-Silva, P. / Perez-Martos, A. / Montoya, J. / Lopez-Perez, M. J. / Sancho, J. / Enriquez, J. A. et al. | 2003
- 341
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Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertilityBosch, E. / Jobling, M. A. et al. | 2003
- 349
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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15Senderek, J. / Bergmann, C. / Weber, S. / Ketelsen, U.-P. / Schorle, H. / Rudnik-Schoneborn, S. / Buttner, R. / Buchheim, E. / Zerres, K. et al. | 2003
- 357
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Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndromeEl Ghouzzi, V. / Dagoneau, N. / Kinning, E. / Thauvin-Robinet, C. / Chemaitilly, W. / Prost-Squarcioni, C. / Al-Gazali, L. I. / Verloes, A. / Le Merrer, M. / Munnich, A. et al. | 2003
- 365
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Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressorMitton, K. P. / Swain, P. K. / Khanna, H. / Dowd, M. / Apel, I. J. / Swaroop, A. et al. | 2003
- 375
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Linkage of mild malaria to the major histocompatibility complex in families living in Burkina FasoFlori, L. / Sawadogo, S. / Esnault, C. / Delahaye, N. F. / Fumoux, F. / Rihet, P. et al. | 2003
- 379
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Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptorZorzato, F. / Yamaguchi, N. / Xu, L. / Meissner, G. / Muller, C. R. / Pouliquin, P. / Muntoni, F. / Sewry, C. / Girard, T. / Treves, S. et al. | 2003
- 389
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Testicular cancer susceptibility in the 129.MOLF-Chr19 mouse strain: additive effects, gene interactions and epigenetic modificationsYoungren, K. K. / Nadeau, J. H. / Matin, A. et al. | 2003
- 399
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Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceAgostino, A. / Invernizzi, F. / Tiveron, C. / Fagiolari, G. / Prelle, A. / Lamantea, E. / Giavazzi, A. / Battaglia, G. / Tatangelo, L. / Tiranti, V. et al. | 2003
- 415
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Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab communityFarrer, L. A. / Bowirrat, A. / Friedland, R. P. / Waraska, K. / Korczyn, A. D. / Baldwin, C. T. et al. | 2003
- 423
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Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulationFunke-Kaiser, H. / Reichenberger, F. / Kopke, K. / Herrmann, S.-M. / Pfeifer, J. / Orzechowski, H.-D. / Zidek, W. / Paul, M. / Brand, E. et al. | 2003
- 435
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Interaction between blood pressure quantitative trait loci in rats in which trait variation at chromosome 1 is conditional upon a specific allele at chromosome 10Monti, J. / Plehm, R. / Schulz, H. / Ganten, D. / Kreutz, R. / Hubner, N. et al. | 2003
- 441
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Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndromeKalkhoven, E. / Roelfsema, J. H. / Teunissen, H. / Boer, A. d. / Ariyurek, Y. / Zantema, A. / Breuning, M. H. / Hennekam, R. C. M. / Peters, D. J. M. et al. | 2003
- 453
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Mutations in a new scaffold protein Sans cause deafness in Jackson shaker miceKikkawa, Y. / Shitara, H. / Wakana, S. / Kohara, Y. / Takada, T. / Okamoto, M. / Taya, C. / Kamiya, K. / Yoshikawa, Y. / Tokano, H. et al. | 2003
- 463
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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmoninWeil, D. / El-Amraoui, A. / Masmoudi, S. / Mustapha, M. / Kikkawa, Y. / Laine, S. / Delmaghani, S. / Adato, A. / Nadifi, S. / Zina, Z. B. et al. | 2003
- 473
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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2Srinivasan, S. / Hanes, M. A. / Dickens, T. / Porteous, M. E. M. / Oh, S. P. / Hale, L. P. / Marchuk, D. A. et al. | 2003
- 483
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Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in miceNawrotzki, R. / Willem, M. / Miosge, N. / Brinkmeier, H. / Mayer, U. et al. | 2003
- 497
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Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in miceGines, S. / Seong, I. S. / Fossale, E. / Ivanova, E. / Trettel, F. / Gusella, J. F. / Wheeler, V. C. / Persichetti, F. / MacDonald, M. E. et al. | 2003
- 509
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A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) miceQin, Y. / Poirier, C. / Truong, C. / Schumacher, A. / Agoulnik, A. I. / Bishop, C. E. et al. | 2003
- 517
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Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell deathDarios, F. / Corti, O. / Lucking, C. B. / Hampe, C. / Muriel, M.-P. / Abbas, N. / Gu, W.-J. / Hirsch, E. C. / Rooney, T. / Ruberg, M. et al. | 2003
- 527
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Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseTaniguchi, K. / Kobayashi, K. / Saito, K. / Yamanouchi, H. / Ohnuma, A. / Hayashi, Y. K. / Manya, H. / Jin, D. K. / Lee, M. / Parano, E. et al. | 2003
- 535
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Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding siteUlaner, G. A. / Vu, T. H. / Li, T. / Hu, J.-F. / Yao, X.-M. / Yang, Y. / Gorlick, R. / Meyers, P. / Healey, J. / Ladanyi, M. et al. | 2003
- 551
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The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weightXu, J. / Koni, P. A. / Wang, P. / Li, G. / Kaczmarek, L. / Wu, Y. / Li, Y. / Flavell, R. A. / Desir, G. V. et al. | 2003
- 561
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Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanismsYeo, G. S. H. / Lank, E. J. / Farooqi, I. S. / Keogh, J. / Challis, B. G. / O Rahilly, S. et al. | 2003
- 575
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Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probandsSuriano, G. / Oliveira, C. / Ferreira, P. / Machado, J. C. / Bordin, M. C. / De Wever, O. / Bruyneel, E. A. / Moguilevsky, N. / Grehan, N. / Porter, T. R. et al. | 2003
- 585
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A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA bindingLyon, M. F. / Jamieson, R. V. / Perveen, R. / Glenister, P. H. / Griffiths, R. / Boyd, Y. / Glimcher, L. H. / Favor, J. / Munier, F. L. / Black, G. C. M. et al. | 2003
- 595
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cDNA microarray analysis of individual Duchenne muscular dystrophy patientsNoguchi, S. / Tsukahara, T. / Fujita, M. / Kurokawa, R. / Tachikawa, M. / Toda, T. / Tsujimoto, A. / Arahata, K. / Nishino, I. et al. | 2003
- 601
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The dystrophin associated protein complex in zebrafishGuyon, J. R. / Mosley, A. N. / Zhou, Y. / O Brien, K. F. / Sheng, X. / Chiang, K. / Davidson, A. J. / Volinski, J. M. / Zon, L. I. / Kunkel, L. M. et al. | 2003
- 617
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Transgenic rat model of Huntington's diseasevon Horsten, S. / Schmitt, I. / Nguyen, H. P. / Holzmann, C. / Schmidt, T. / Walther, T. / Bader, M. / Pabst, R. / Kobbe, P. / Krotova, J. et al. | 2003
- 625
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Atopy, respiratory function and HLA-DR in Aboriginal AustraliansMoffatt, M. F. / Faux, J. A. / Lester, S. / Pare, P. / McCluskey, J. / Spargo, R. / James, A. / Musk, A. W. / Cookson, W. O. C. M. et al. | 2003
- 631
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LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in miceGamp, A.-C. / Tanaka, Y. / Lullmann-Rauch, R. / Wittke, D. / D Hooge, R. / De Deyn, P. P. / Moser, T. / Maier, H. / Hartmann, D. / Reiss, K. et al. | 2003
- 647
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Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHCAhmad, T. / Neville, M. / Marshall, S. E. / Armuzzi, A. / Mulcahy-Hawes, K. / Crawshaw, J. / Sato, H. / Ling, K.-L. / Barnardo, M. / Goldthorpe, S. et al. | 2003
- 657
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondriaSchroder, R. / Goudeau, B. / Simon, M. C. / Fischer, D. / Eggermann, T. / Clemen, C. S. / Li, Z. / Reimann, J. / Xue, Z. / Rudnik-Schoneborn, S. et al. | 2003
- 671
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Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkageHauser, M. A. / Li, Y.-J. / Takeuchi, S. / Walters, R. / Noureddine, M. / Maready, M. / Darden, T. / Hulette, C. / Martin, E. / Hauser, E. et al. | 2003
- 679
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BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levelsWaite, K. A. / Eng, C. et al. | 2003
- 685
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PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expressionHogan, M. C. / Griffin, M. D. / Rossetti, S. / Torres, V. E. / Ward, C. J. / Harris, P. C. et al. | 2003
- 701
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Comparison of the genomes of human and mouse lays the foundation of genome zoologyEmes, R. D. / Goodstadt, L. / Winter, E. E. / Ponting, C. P. et al. | 2003
- 711
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PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotypeOkuda, T. / Hattori, H. / Takeuchi, S. / Shimizu, J. / Ueda, H. / Palvimo, J. J. / Kanazawa, I. / Kawano, H. / Nakagawa, M. / Okazawa, H. et al. | 2003
- 727
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Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disordersWhiteman, P. / Handford, P. A. et al. | 2003
- 739
-
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndromeOhno, K. / Sadeh, M. / Blatt, I. / Brengman, J. M. / Engel, A. G. et al. | 2003
- 749
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Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing proteinTaylor, J. P. / Tanaka, F. / Robitschek, J. / Sandoval, C. M. / Taye, A. / Markovic-Plese, S. / Fischbeck, K. H. et al. | 2003
- 759
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Alternative 5' exons of the CFTR gene show developmental regulationMouchel, N. / Broackes-Carter, F. / Harris, A. et al. | 2003
- 771
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Linkage disequilibrium patterns of the human genome across populationsShifman, S. / Kuypers, J. / Kokoris, M. / Yakir, B. / Darvasi, A. et al. | 2003
- 777
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Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1Hurle, B. / Ignatova, E. / Massironi, S. M. / Mashimo, T. / Rios, X. / Thalmann, I. / Thalmann, R. / Ornitz, D. M. et al. | 2003
- 791
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A comprehensive search for DNA amplification in lung cancer identifies inhibitors of apoptosis cIAP1 and cIAP2 as candidate oncogenesDai, Z. / Zhu, W.-G. / Morrison, C. D. / Brena, R. M. / Smiraglia, D. J. / Raval, A. / Wu, Y.-Z. / Rush, L. J. / Ross, P. / Molina, J. R. et al. | 2003
- 805
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Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30Marziano, N. K. / Casalotti, S. O. / Portelli, A. E. / Becker, D. L. / Forge, A. et al. | 2003
- 813
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Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilizationBomont, P. / Koenig, M. et al. | 2003
- 823
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Pattern recognition in gene expression profiling using DNA array: a comparative study of different statistical methods applied to cancer classificationRomualdi, C. / Campanaro, S. / Campagna, D. / Celegato, B. / Cannata, N. / Toppo, S. / Valle, G. / Lanfranchi, G. et al. | 2003
- 837
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Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3aYamasaki, K. / Joh, K. / Ohta, T. / Masuzaki, H. / Ishimaru, T. / Mukai, T. / Niikawa, N. / Ogawa, M. / Wagstaff, J. / Kishino, T. et al. | 2003
- 849
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Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGimelli, G. / Pujana, M. A. / Patricelli, M. G. / Russo, S. / Giardino, D. / Larizza, L. / Cheung, J. / Armengol, L. / Schinzel, A. / Estivill, X. et al. | 2003
- 859
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Haplotypes extending across ACE are associated with Alzheimer's diseaseKehoe, P. G. / Katzov, H. / Feuk, L. / Bennet, A. M. / Johansson, B. / Wiman, B. / de Faire, U. / Cairns, N. J. / Wilcock, G. K. / Brookes, A. J. et al. | 2003
- 869
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Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expressionTheuns, J. / Remacle, J. / Killick, R. / Corsmit, E. / Vennekens, K. / Huylebroeck, D. / Cruts, M. / Van Broeckhoven, C. et al. | 2003
- 879
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Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)Lesuisse, E. / Santos, R. / Matzanke, B. F. / Knight, S. A. B. / Camadro, J.-M. / Dancis, A. et al. | 2003
- 891
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Evolution and population genetics of the H-ras minisatellite and cancer predispositionLangdon, J. A. / Armour, J. A. L. et al. | 2003
- 901
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Interleukin 10 haplotype associated with increased risk of hepatocellular carcinomaShin, H. D. / Park, B. L. / Kim, L. H. / Jung, J. H. / Kim, J. Y. / Yoon, J. H. / Kim, Y. J. / Lee, H. S. et al. | 2003
- 907
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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patientsAartsma-Rus, A. / Janson, A. A. M. / Kaman, W. E. / Bremmer-Bout, M. / Dunnen, J. T. d. / Baas, F. / van Ommen, G.-J. B. / van Deutekom, J. C. T. et al. | 2003
- 915
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A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibilityRafii, S. / Lindblom, A. / Reed, M. / Meuth, M. / Cox, A. et al. | 2003
- 925
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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeJobard, F. / Bouadjar, B. / Caux, F. / Hadj-Rabia, S. / Has, C. / Matsuda, F. / Weissenbach, J. / Lathrop, M. / Prud homme, J.-F. / Fischer, J. et al. | 2003
- 937
-
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancerLang, D. / Epstein, J. A. et al. | 2003
- 949
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndromeWillemsen, R. / Hoogeveen-Westerveld, M. / Reis, S. / Holstege, J. / Severijnen, L.-A. W. F. M. / Nieuwenhuizen, I. M. / Schrier, M. / van Unen, L. / Tassone, F. / Hoogeveen, A. T. et al. | 2003
- 961
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Production of MPS VII mouse (Gus^t^m^(^h^E^5^4^0^A^·^m^E^5^3^6^A^)^S^l^y) doubly tolerant to human and mouse beta-glucuronidaseTomatsu, S. / Orii, K. O. / Vogler, C. / Grubb, J. H. / Snella, E. M. / Gutierrez, M. / Dieter, T. / Holden, C. C. / Sukegawa, K. / Orii, T. et al. | 2003
- 975
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Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive thresholdYang, Y. / Beyer, B. J. / Otto, J. F. / O Brien, T. P. / Letts, V. A. / White, H. S. / Frankel, W. N. et al. | 2003
- 985
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Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagyRavikumar, B. / Stewart, A. / Kita, H. / Kato, K. / Duden, R. / Rubinsztein, D. C. et al. | 2003
- 995
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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafnessKudo, T. / Kure, S. / Ikeda, K. / Xia, A.-P. / Katori, Y. / Suzuki, M. / Kojima, K. / Ichinohe, A. / Suzuki, Y. / Aoki, Y. et al. | 2003
- 1005
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Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same markArnaud, P. / Monk, D. / Hitchins, M. / Gordon, E. / Dean, W. / Beechey, C. V. / Peters, J. / Craigen, W. / Preece, M. / Stanier, P. et al. | 2003
- 1461
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Candidate DNA replication initiation regions at human trinucleotide repeat disease lociNenguke, Taurai / Aladjem, Mirit I. / Gusella, James F. / Wexler, Nancy S. / The Venezuela HD Project, / Arnheim, Norman et al. | 2003
- 1359
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Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor)Ikeda, Sakae / Cunningham, Leslie A. / Boggess, Dawnalyn / Hobson, Craig D. / Sundberg, John P. / Naggert, Jürgen K. / Smith, Richard S. / Nishina, Patsy M. et al. | 2003
- 1037
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Integration of the cytogenetic map with the draft human genome sequenceFurey, T. S. / Haussler, D. et al. | 2003
- 1045
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Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression patternPetit, N. / Lescure, A. / Rederstorff, M. / Krol, A. / Moghadaszadeh, B. / Wewer, U. M. / Guicheney, P. et al. | 2003
- 1055
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Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer familiesMontagna, M. / Palma, M. D. / Menin, C. / Agata, S. / De Nicolo, A. / Chieco-Bianchi, L. / D Andrea, E. et al. | 2003
- 1063
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Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patientsLehmann, S. G. / Wurtz, J.-M. / Renaud, J.-P. / Sassone-Corsi, P. / Lalli, E. et al. | 2003
- 1073
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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationJacobson, S. G. / Cideciyan, A. V. / Aleman, T. S. / Pianta, M. J. / Sumaroka, A. / Schwartz, S. B. / Smilko, E. E. / Milam, A. H. / Sheffield, V. C. / Stone, E. M. et al. | 2003
- 1079
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Genetic dissection of anxiety in autoimmune diseaseNakamura, Kazuhiro / Xiu, Yan / Ohtsuji, Mareki / Sugita, Gen / Abe, Masaaki / Ohtsuji, Naomi / Hamano, Yoshitomo / Jiang, Yi / Takahashi, Noriko / Shirai, Toshikazu et al. | 2003
- 1087
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Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skippingBertoni, Carmen / Lau, Catherine / Rando, Thomas A. et al. | 2003
- 1101
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Association of a functional 17{beta}-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in femalesKristiansen, Ole P. / Nolsøe, Runa L. / Larsen, Lykke / Gjesing, Anette M.P. / Johannesen, Jesper / Larsen, Zenia M. / Lykkesfeldt, Anne E. / Karlsen, Allan E. / Pociot, Flemming / Mandrup-Poulsen, Thomas et al. | 2003
- 1111
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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12Pagani, Franco / Stuani, Cristiana / Tzetis, Maria / Kanavakis, Emmanuel / Efthymiadou, Alexandra / Doudounakis, Stavros / Casals, Teresa / Baralle, Francisco E. et al. | 2003
- 1121
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Functional polymorphisms in the paternally expressed XL{alpha}s and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formationFreson, Kathleen / Jaeken, Jaak / Van Helvoirt, Monique / de Zegher, Francis / Wittevrongel, Christine / Thys, Chantal / Hoylaerts, Marc F. / Vermylen, Jos / Van Geet, Chris et al. | 2003
- 1131
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Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humansWen, Xiao-Yan / Hegele, Robert A. / Wang, Jian / Wang, Ding Yan / Cheung, Joseph / Wilson, Michael / Yahyapour, Maryam / Bai, Yahong / Zhuang, Lihua / Skaug, Jennifer et al. | 2003
- 1145
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A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophyHeinzer, Ann K. / Watkins, Paul A. / Lu, Jyh-Feng / Kemp, Stephan / Moser, Ann B. / Li, Yuan Yuan / Mihalik, Stephanie / Powers, James M. / Smith, Kirby D. et al. | 2003
- 1155
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Prestin, a cochlear motor protein, is defective in non-syndromic hearing lossLiu, Xue Zhong / Ouyang, Xiao Mei / Xia, Xia Juan / Zheng, Jing / Pandya, Arti / Li, Fang / Du, Li Lin / Welch, Katherine O. / Petit, Christine / Smith, Richard J.H. et al. | 2003
- 1163
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Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel geneDavy, Brian E. / Robinson, Michael L. et al. | 2003
- 1171
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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegiaMonnier, Nicole / Ferreiro, Ana / Marty, Isabelle / Labarre-Vila, Annick / Mezin, Paulette / Lunardi, Joel et al. | 2003
- 1179
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FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndromeKriederman, Benjamin M. / Myloyde, Teressa L. / Witte, Marlys H. / Dagenais, Susan L. / Witte, Charles L. / Rennels, Margaret / Bernas, Michael J. / Lynch, Michelle T. / Erickson, Robert P. / Caulder, Mark S. et al. | 2003
- 1187
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Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signalingGofflot, Françoise / Hars, Carine / Illien, Françoise / Chevy, Françoise / Wolf, Claude / Picard, Jacques J. / Roux, Charles et al. | 2003
- 1199
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Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary diseasePalmer, Lyle J. / Celedón, Juan C. / Chapman, Harold A. / Speizer, Frank E. / Weiss, Scott T. / Silverman, Edwin K. et al. | 2003
- 1211
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Upregulation of the Rac1/JNK signaling pathway in primary human schwannoma cellsKaempchen, Katherine / Mielke, Kirsten / Utermark, Tamara / Langmesser, Sonja / Hanemann, C. Oliver et al. | 2003
- 1223
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Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's diseaseMarx, Frank P. / Holzmann, Carsten / Strauss, Karsten M. / Li, Lei / Eberhardt, Olaf / Gerhardt, Ellen / Cookson, Mark R. / Hernandez, Dena / Farrer, Matt J. / Kachergus, Jennifer et al. | 2003
- 1233
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Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophyLesbordes, Jeanne-Claire / Cifuentes-Diaz, Carmen / Miroglio, Audrey / Joshi, Vandana / Bordet, Thierry / Kahn, Axel / Melki, Judith et al. | 2003
- 1241
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Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiencyAlam, N.A. / Rowan, A.J. / Wortham, N.C. / Pollard, P.J. / Mitchell, M. / Tyrer, J.P. / Barclay, E. / Calonje, E. / Manek, S. / Adams, S.J. et al. | 2003
- 1253
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Prevention of polyglutamine oligomerization and neurodegeneration by the peptide inhibitor QBP1 in DrosophilaNagai, Yoshitaka / Fujikake, Nobuhiro / Ohno, Katsuhito / Higashiyama, Hiroyuki / Popiel, Helena A. / Rahadian, Julia / Yamaguchi, Masamitsu / Strittmatter, Warren J. / Burke, James R. / Toda, Tatsushi et al. | 2003
- 1261
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Gene expression differences in quiescent versus regenerating hair cells of avian sensory epithelia: implications for human hearing and balance disordersHawkins, R. David / Bashiardes, Stavros / Helms, Cynthia A. / Hu, Lydia / Saccone, Nancy Lim / Warchol, Mark E. / Lovett, Michael et al. | 2003
- 1273
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Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12pGong, Maolian / Zhang, Hongye / Schulz, Herbert / Lee, Young-Ae / Sun, Kai / Bähring, Sylvia / Luft, Friedrich C. / Nürnberg, Peter / Reis, André / Rohde, Klaus et al. | 2003
- 1279
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Association of Eotaxin gene family with asthma and serum total IgEShin, Hyoung Doo / Kim, Lyoung Hyo / Park, Byung Lae / Jung, Ji Hyun / Kim, Jun Yeon / Chung, Il-Yup / Kim, Jung Sun / Lee, June Hyuk / Chung, Sun Hee / Kim, Yong Hoon et al. | 2003
- 1287
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Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophinGilbert, Rénald / Dudley, Roy W. R. / Liu, An-Bang / Petrof, Basil J. / Nalbantoglu, Josephine / Karpati, George et al. | 2003
- 1301
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An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retinaSemenova, Ekaterina / Wang, XiaoFei / Jablonski, Monica M. / Levorse, John / Tilghman, Shirley M. et al. | 2003
- 1313
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Low conservation of alternative splicing patterns in the human and mouse genomesNurtdinov, Ramil N. / Artamonova, Irena I. / Mironov, Andrei A. / Gelfand, Mikhail S. et al. | 2003
- 1321
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Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shufflingEjima, Yosuke / Yang, Lichun et al. | 2003
- 1329
-
Telomere length and the expression of natural telomeric genes in human fibroblastsNing, Yi / Xu, Jing-fan / Li, Yu / Chavez, Liz / Riethman, Harold C. / Lansdorp, Peter M. / Weng, Nan-ping et al. | 2003
- 1337
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HnRNP G and Tra2{beta}: opposite effects on splicing matched by antagonism in RNA bindingNasim, M. Talat / Chernova, Tatyana K. / Chowdhury, Hasnin M. / Yue, Bai-Gong / Eperon, Ian C. et al. | 2003
- 1349
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Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1Kaiser, Frank J. / Tavassoli, Kamiab / Van den Bemd, Gert-Jan / Chang, Glenn T.G. / Horsthemke, Bernhard / Möröy, Tarik / Lüdecke, Hermann-Josef et al. | 2003
- 1361
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Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control studyHalsall, David J. / McFarlane, Ian / Luan, Jian'an / Cox, Timothy M. / Wareham, Nicholas J. et al. | 2003
- 1367
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Neuromuscular defects in a Drosophila survival motor neuron gene mutantChan, Yick Bun / Miguel-Aliaga, Irene / Franks, Chris / Thomas, Natasha / Trülzsch, Barbara / Sattelle, David B. / Davies, Kay E. / van den Heuvel, Marcel et al. | 2003
- 1377
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Polyglutamine protein aggregation and toxicity are linked to the cellular stress responseCowan, K.J. / Diamond, M.I. / Welch, W.J. et al. | 2003
- 1393
-
Huntingtin contains a highly conserved nuclear export signalXia, Jianrun / Lee, Denise H. / Taylor, Jillian / Vandelft, Mark / Truant, Ray et al. | 2003
- 1405
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Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform molesEl-Maarri, Osman / Seoud, Muhieddine / Coullin, Philippe / Herbiniaux, Ursula / Oldenburg, Johannes / Rouleau, Guy / Slim, Rima et al. | 2003
- 1415
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IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosisBahi, Nadia / Friocourt, Gaelle / Carrié, Alain / Graham, Margaret E. / Weiss, Jamie L. / Chafey, Philippe / Fauchereau, Fabien / Burgoyne, Robert D. / Chelly, Jamel et al. | 2003
- 1427
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The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegenerationCorti, Olga / Hampe, Cornelia / Koutnikova, Hana / Darios, Frédéric / Jacquier, Sandrine / Prigent, Annick / Robinson, Jean-Charles / Pradier, Laurent / Ruberg, Merle / Mirande, Marc et al. | 2003
- 1439
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Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasiaSock, Elisabeth / Pagon, Roberta A. / Keymolen, Kathelijn / Lissens, Willy / Wegner, Michael / Scherer, Gerd et al. | 2003
- 1449
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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye developmentTakeda, Satoshi / Kondo, Mari / Sasaki, Junko / Kurahashi, Hiroki / Kano, Hiroki / Arai, Ken / Misaki, Kazuyo / Fukui, Takehiko / Kobayashi, Kazuhiro / Tachikawa, Masaji et al. | 2003
- 1463
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CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviorFrints, Suzanna G. M. / Marynen, Peter / Hartmann, Dieter / Fryns, Jean-Pierre / Steyaert, Jean / Schachner, Melitta / Rolf, Bettina / Craessaerts, Katleen / Snellinx, An / Hollanders, Karen et al. | 2003
- 1475
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Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2Robinson-White, Audrey / Hundley, Thomas R. / Shiferaw, Miriam / Bertherat, Jérôme / Sandrini, Fabiano / Stratakis, Constantine A. et al. | 2003
- 1485
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Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell deathHuynh, Duong P. / Yang, Hai-Tao / Vakharia, Hema / Nguyen, Dung / Pulst, Stefan M. et al. | 2003
- 1497
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Transglutaminase potentiates ligand-dependent proteasome dysfunction induced by polyglutamine-expanded androgen receptorMandrusiak, Lisa M. / Beitel, Lenore K. / Wang, Xiaoling / Scanlon, Thomas C. / Chevalier-Larsen, Erica / Merry, Diane E. / Trifiro, Mark A. et al. | 2003
- 1507
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True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 productRapic-Otrin, Vesna / Navazza, Valentina / Nardo, Tiziana / Botta, Elena / McLenigan, Mary / Bisi, Dawn C. / Levine, Arthur S. / Stefanini, Miria et al. | 2003
- 1523
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The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathwayCobbold, Christian / Coventry, Julie / Ponnambalam, Sreenivasan / Monaco, Anthony P. et al. | 2003
- 1535
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Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinaseOkamura-Oho, Yuko / Miyashita, Toshiyuki / Nagao, Kazuaki / Shima, Seigo / Ogata, Yukie / Katada, Toshiaki / Nishina, Hiroshi / Yamada, Masao et al. | 2003
- 1543
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Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retinaDalloz, Cécile / Sarig, Rachel / Fort, Patrice / Yaffe, David / Bordais, Agnès / Pannicke, Thomas / Grosche, Jens / Mornet, Dominique / Reichenbach, Andreas / Sahel, José et al. | 2003
- 1555
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Selective striatal neuronal loss in a YAC128 mouse model of Huntington diseaseSlow, Elizabeth J. / van Raamsdonk, Jeremy / Rogers, Daniel / Coleman, Sarah H. / Graham, Rona K. / Deng, Yu / Oh, Rosemary / Bissada, Nagat / Hossain, Sazzad M. / Yang, Yu-Zhou et al. | 2003
- 1569
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Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regionsSandovici, Ionel / Leppert, Mark / Hawk, Patricia Red / Suarez, Alexander / Linares, Yendi / Sapienza, Carmen et al. | 2003
- 1579
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Genetic modifiers interact with maternal determinants in vascular development of Tgfb1-/- miceTang, Yang / McKinnon, Margaret L. / Leong, Li Ming / Rusholme, Sarah A. B. / Wang, Susana / Akhurst, Rosemary J. et al. | 2003
- 1591
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DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutationMorris, Jill A. / Kandpal, Geeta / Ma, Lei / Austin, Christopher P. et al. | 2003
- 1609
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Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G {alpha}B-crystallin mutantChávez Zobel, Aura T. / Loranger, Anne / Marceau, Normand / Thériault, Jimmy R. / Lambert, Herman / Landry, Jacques et al. | 2003
- 1621
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Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein contextJackson, Walker S. / Tallaksen-Greene, Sara J. / Albin, Roger L. / Detloff, Peter J. et al. | 2003
- 1631
-
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiencyKrakowiak, Patrycja A. / Wassif, Christopher A. / Kratz, Lisa / Cozma, Diana / Kovárová, Martina / Harris, Ginny / Grinberg, Alexander / Yang, Yinzi / Hunter, Alasdair G.W. / Tsokos, Maria et al. | 2003
- 1643
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The CDY-related gene family: coordinated evolution in copy number, expression profile and protein sequenceDorus, Steve / Gilbert, Sandra L. / Forster, Michele L. / Barndt, Robert J. / Lahn, Bruce T. et al. | 2003
- 1651
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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusBadano, Jose L. / Kim, Jun Chul / Hoskins, Bethan E. / Lewis, Richard Alan / Ansley, Stephen J. / Cutler, David J. / Castellan, Claudio / Beales, Philip L. / Leroux, Michel R. / Katsanis, Nicholas et al. | 2003
- 1661
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Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitutionKuiper, Roland P. / Schepens, Marga / Thijssen, José / van Asseldonk, Martien / van den Berg, Eva / Bridge, Julia / Schuuring, Ed / Schoenmakers, Eric F.P.M. / van Kessel, Ad Geurts et al. | 2003
- 1671
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ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamicsOtomo, Asako / Hadano, Shinji / Okada, Takeya / Mizumura, Hikaru / Kunita, Ryota / Nishijima, Hitoshi / Showguchi-Miyata, Junko / Yanagisawa, Yoshiko / Kohiki, Eri / Suga, Etsuko et al. | 2003
- 1689
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82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localizationBardoni, Barbara / Castets, Marie / Huot, Marc-Etienne / Schenck, Annette / Adinolfi, Salvatore / Corbin, François / Pastore, Annalisa / Khandjian, Edouard W. / Mandel, Jean-Louis et al. | 2003
- 1699
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Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cellsTan, Guolin / Napoli, Eleonora / Taroni, Franco / Cortopassi, Gino et al. | 2003
- 1713
-
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nervePrevitali, Stefano C. / Zerega, Barbara / Sherman, Diane L. / Brophy, Peter J. / Dina, Giorgia / King, Rosalind H.M. / Salih, Mustafa M. / Feltri, Laura / Quattrini, Angelo / Ravazzolo, Roberto et al. | 2003
- 1725
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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactylyLettice, Laura A. / Heaney, Simon J.H. / Purdie, Lorna A. / Li, Li / de Beer, Philippe / Oostra, Ben A. / Goode, Debbie / Elgar, Greg / Hill, Robert E. / de Graaff, Esther et al. | 2003
- 1737
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Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disordersBakirtzis, George / Choudhry, Rukhsana / Aasen, Trond / Shore, Leonard / Brown, Ken / Bryson, Sheila / Forrow, Stephen / Tetley, Laurence / Finbow, Malcolm / Greenhalgh, David et al. | 2003
- 1745
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Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture riskvan Meurs, Joyce B.J. / Schuit, Stephanie C.E. / Weel, Angélique E.A.M. / van der Klift, Marjolein / Bergink, Arjan P. / Arp, Pascal P. / Colin, Edgar M. / Fang, Yue / Hofman, Albert / van Duijn, Cornelia M. et al. | 2003
- 1755
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Dimerization of SOX9 is required for chondrogenesis, but not for sex determinationBernard, Pascal / Tang, Paisu / Liu, Siyuan / Dewing, Phoebe / Harley, Vincent R. / Vilain, Eric et al. | 2003
- 1767
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Cell cycle-dependent translation of p27 involves a responsive element in its 5'-UTR that overlaps with a uORFGöpfert, Ulrich / Kullmann, Michael / Hengst, Ludger et al. | 2003
- 1781
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Association and linkage analyses of RGS4 polymorphisms in schizophreniaChowdari, Kodavali V. / Mirnics, Karoly / Semwal, Prachi / Wood, Joel / Lawrence, Elizabeth / Bhatia, Triptish / Deshpande, Smita N. / Thelma, B.K. / Ferrell, Robert E. / Middleton, Frank A. et al. | 2003
- 1783
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X-linked genes in female embryonic stem cells carry an epigenetic mark prior to the onset of X inactivationO'Neill, Laura P. / Randall, Tamzin E. / Lavender, Jayne / Spotswood, Hugh T. / Lee, Jeannie T. / Turner, Bryan M. et al. | 2003
- 1791
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Reactivation of the silenced and imprinted alleles of ARHI is associated with increased histone H3 acetylation and decreased histone H3 lysine 9 methylationFujii, Satoshi / Luo, Robert Z. / Yuan, Jiuhong / Kadota, Mitsutaka / Oshimura, Mitsuo / Dent, Sharon R. / Kondo, Yutaka / Issa, Jean-Pierre J. / Bast, Robert C. / Yu, Yinhua et al. | 2003
- 1801
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Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscleGebski, Bianca L. / Mann, Chrisopher J. / Fletcher, Susan / Wilton, Stephen D. et al. | 2003
- 1813
-
Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient (mdx) micePorter, John D. / Merriam, Anita P. / Leahy, Patrick / Gong, Bendi / Khanna, Sangeeta et al. | 2003
- 1823
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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesSpiteri, Elizabeth / Babcock, Melanie / Kashork, Catherine D. / Wakui, Keiko / Gogineni, Swarna / Lewis, Debbie A. / Williams, Kisa M. / Minoshima, Shinsei / Sasaki, Takashi / Shimizu, Nobuyoshi et al. | 2003
- 1839
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Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblastsTaanman, Jan-Willem / Muddle, John R. / Muntau, Ania C. et al. | 2003
- 1847
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RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neuronsCastagnet, P. / Mavlyutov, T. / Cai, Y. / Zhong, F. / Ferreira, P. et al. | 2003
- 1865
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A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetesDemenais, Florence / Kanninen, Timo / Lindgren, Cecilia M. / Wiltshire, Steven / Gaget, Stéphane / Dandrieux, Candice / Almgren, Peter / Sjögren, Marketa / Hattersley, Andrew / Dina, Christian et al. | 2003
- 1875
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Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cellsQian, Qi / Hunter, Larry W. / Li, Ming / Marin-Padilla, Miguel / Prakash, Y.S. / Somlo, Stefan / Harris, Peter C. / Torres, Vicente E. / Sieck, Gary C. et al. | 2003
- 1881
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Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in miceRodemer, Claus / Thai, Thanh-Phuong / Brugger, Britta / Kaercher, Thomas / Werner, Hauke / Nave, Klaus-Armin / Wieland, Felix / Gorgas, Karin / Just, Wilhelm W. et al. | 2003
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Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectorsBaldeschi, Christine / Gache, Yannick / Rattenholl, Anke / Bouillé, Pascale / Danos, Olivier / Ortonne, Jean-Paul / Bruckner-Tuderman, Leena / Meneguzzi, Guerrino et al. | 2003
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Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorderEkholm, Jenny M. / Kieseppä, Tuula / Hiekkalinna, Tero / Partonen, Timo / Paunio, Tiina / Perola, Markus / Ekelund, Jesper / Lönnqvist, Jouko / Pekkarinen-Ijäs, Petra / Peltonen, Leena et al. | 2003
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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneLee, Ming-Jen / Stephenson, Dennis A. / Groves, Michael J. / Sweeney, Mary G. / Davis, Mary B. / An, Shu-Fang / Houlden, Henry / Salih, Mustafa A. M. / Timmerman, Vincent / de Jonghe, Peter et al. | 2003
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Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5Du, Minjie / Beatty, Linda G. / Zhou, Wenjing / Lew, Jocelyne / Schoenherr, Christopher / Weksberg, Rosanna / Sadowski, Paul D. et al. | 2003
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PTEN blocks insulin-mediated ETS-2 phosphorylation through MAP kinase, independently of the phosphoinositide 3-kinase pathwayWeng, Liang-Ping / Brown, Jessica L. / Baker, Kim M. / Ostrowski, Michael C. / Eng, Charis et al. | 2003
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Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuronOsaka, Hitoshi / Wang, Yu-Lai / Takada, Koji / Takizawa, Shuichi / Setsuie, Rieko / Li, Hang / Sato, Yae / Nishikawa, Kaori / Sun, Ying-Jie / Sakurai, Mikako et al. | 2003
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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24de Mollerat, Xavier J. / Gurrieri, Fiorella / Morgan, Chad T. / Sangiorgi, Eugenio / Everman, David B. / Gaspari, Paola / Amiel, Jeanne / Bamshad, Michael J. / Lyle, Robert / Blouin, Jean-Louis et al. | 2003
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Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypesRaby, Benjamin A. / Silverman, Edwin K. / Lazarus, Ross / Lange, Christoph / Kwiatkowski, David J. / Weiss, Scott T. et al. | 2003
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Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shapeHou, Peng / Estrada, Lourdes / Kinley, Andrew W. / Parsons, J. Thomas / Vojtek, Anne B. / Gorski, Jerome L. et al. | 2003
- 1995
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasiaAgarwal, Anil K. / Fryns, Jean-Pierre / Auchus, Richard J. / Garg, Abhimanyu et al. | 2003
- 2003
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Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene productHofmann, Sabine / Philbrook, Christine / Gerbitz, Klaus-Dieter / Bauer, Matthias F. et al. | 2003
- 2013
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Global disruption of the cerebellar transcriptome in a Down syndrome mouse modelSaran, Nidhi G. / Pletcher, Mathew T. / Natale, JoAnne E. / Cheng, Ying / Reeves, Roger H. et al. | 2003
- 2021
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Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate releaseLi, He / Wyman, Travis / Yu, Zhao-Xue / Li, Shi-Hua / Li, Xiao-Jiang et al. | 2003
- 2031
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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator geneAznarez, Isabel / Chan, Elayne M. / Zielenski, Julian / Blencowe, Benjamin J. / Tsui, Lap-Chee et al. | 2003
- 2041
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TBX1 is required for inner ear morphogenesisVitelli, Francesca / Viola, Antonella / Morishima, Masae / Pramparo, Tiziano / Baldini, Antonio / Lindsay, Elizabeth et al. | 2003
- 2049
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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degenerationBen-Yosef, Tamar / Belyantseva, Inna A. / Saunders, Thomas L. / Hughes, Elizabeth D. / Kawamoto, Kohei / Van Itallie, Christina M. / Beyer, Lisa A. / Halsey, Kärin / Gardner, Donald J. / Wilcox, Edward R. et al. | 2003
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Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasiaWong, Jasmine C.Y. / Alon, Noa / Mckerlie, Colin / Huang, Jun R. / Meyn, M. Stephen / Buchwald, Manuel et al. | 2003
- 2077
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A genome wide scan for early onset primary hypertension in Scandinaviansvon Wowern, Fredrik / Bengtsson, Kristina / Lindgren, Cecilia M. / Orho-Melander, Marju / Fyhrquist, Frej / Lindblad, Ulf / Råstam, Lennart / Forsblom, Carol / Kanninen, Timo / Almgren, Peter et al. | 2003
- 2087
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High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypesRibbhammar, Ulrica / Flornes, Line / Bäckdahl, Liselotte / Luthman, Holger / Fossum, Sigbjörn / Lorentzen, Johnny C. et al. | 2003
- 2097
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Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasisFeliubadaló, Lídia / Arbonés, María Lourdes / Mañas, Sandra / Chillarón, Josep / Visa, Joana / Rodés, Margot / Rousaud, Ferran / Zorzano, Antonio / Palacín, Manuel / Nunes, Virginia et al. | 2003
- 2097
-
Slc7a9-deficient mice develop cystinuria non-1 and cystine urolithiasisFeliubadalo, L. / Arbones, M. L. / Manas, S. / Chillaron, J. / Visa, J. / Rodes, M. / Rousand, F. / Zorzano, A. / Palacin, M. / Nunes, V. et al. | 2003
- 2109
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A mouse model for cystinuria type IPeters, T. / Thaete, C. / Wolf, S. / Popp, A. / Sedlmeier, R. / Grosse, J. / Nehls, M.C. / Russ, A. / Schlueter, V. et al. | 2003
- 2121
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Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse modelYang, Yongping / Swaminathan, Srividya / Martin, Betty K. / Sharan, Shyam K. et al. | 2003
- 2133
-
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RETKjær, Svend / Ibáñez, Carlos F. et al. | 2003
- 2145
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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletionsYu, Wei / Ballif, Blake C. / Kashork, Catherine D. / Heilstedt, Heidi A. / Howard, Leslie A. / Cai, Wei-Wen / White, Lisa D. / Liu, Wenbin / Beaudet, Arthur L. / Bejjani, Bassem A. et al. | 2003
- 2153
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Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletionsBallif, Blake C. / Yu, Wei / Shaw, Chad A. / Kashork, Catherine D. / Shaffer, Lisa G. et al. | 2003
- 2167
-
Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosomeChadwick, Brian P. / Willard, Huntington F. et al. | 2003
- 2179
-
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retinaMehalow, Adrienne K. / Kameya, Shuhei / Smith, Richard S. / Hawes, Norman L. / Denegre, James M. / Young, James A. / Bechtold, Lesley / Haider, Neena B. / Tepass, Ulrich / Heckenlively, John R. et al. | 2003
- 2191
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Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to diseaseBomprezzi, Roberto / Ringnér, Markus / Kim, Seungchan / Bittner, Michael L. / Khan, Javed / Chen, Yidong / Elkahloun, Abdel / Yu, Aimee / Bielekova, Bibiana / Meltzer, Paul S. et al. | 2003
- 2201
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Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangementsArmengol, Lluís / Pujana, Miguel Angel / Cheung, Joseph / Scherer, Stephen W. / Estivill, Xavier et al. | 2003
- 2209
-
Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferasesPaz, Maria F. / Wei, Susan / Cigudosa, Juan C. / Rodriguez-Perales, Sandra / Peinado, Miguel A. / Huang, Tim Hui-Ming / Esteller, Manel et al. | 2003
- 2221
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Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defectsKiefer, Susan McLeskey / Ohlemiller, Kevin K. / Yang, Jing / McDill, Bradley W. / Kohlhase, Jürgen / Rauchman, Michael et al. | 2003
- 2229
-
Recombination across the centromere of disjoined and non-disjoined chromosome 21Laurent, Anne-Marie / Li, Meizhang / Sherman, Stephanie / Roizès, Gérard / Buard, Jérôme et al. | 2003
- 2241
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosisMerryweather-Clarke, Alison T. / Cadet, Estelle / Bomford, Adrian / Capron, Dominique / Viprakasit, Vip / Miller, Anne / McHugh, Paddy J. / Chapman, Roger W. / Pointon, Jennifer J. / Wimhurst, Victoria L.C. et al. | 2003
- 2249
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Functional analysis of human promoter polymorphismsHoogendoorn, Bastiaan / Coleman, Sharon L. / Guy, Carol A. / Smith, Kaye / Bowen, Tim / Buckland, Paul R. / O'Donovan, Michael C. et al. | 2003
- 2255
-
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctataBrites, Pedro / Motley, Alison M. / Gressens, Pierre / Mooyer, Petra A.W. / Ploegaert, Ingrid / Everts, Vincent / Evrard, Philippe / Carmeliet, Peter / Dewerchin, Mieke / Schoonjans, Luc et al. | 2003
- 2269
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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?Hutchinson, Sarah / Furger, Andre / Halliday, Dorothy / Judge, Daniel P. / Jefferson, Andrew / Dietz, Harry C. / Firth, Helen / Handford, Penny A. et al. | 2003
- 2277
-
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouseItier, Jean-Michel / Ibáñez, Pablo / Mena, María Angeles / Abbas, Nacer / Cohen-Salmon, Charles / Bohme, Georg Andrees / Laville, Michel / Pratt, Jeremy / Corti, Olga / Pradier, Laurent et al. | 2003
- 2293
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Growth retardation and skin abnormalities of the Recql4-deficient mouseHoki, Yuko / Araki, Ryoko / Fujimori, Akira / Ohhata, Tatsuya / Koseki, Haruhiko / Fukumura, Ryutaro / Nakamura, Miki / Takahashi, Hirokazu / Noda, Yuko / Kito, Seiji et al. | 2003
- 2301
-
DNA damage induced by polyglutamine-expanded proteinsGiuliano, Paola / de Cristofaro, Tiziana / Affaitati, Adelina / Pizzulo, Grazia M. / Feliciello, Antonio / Criscuolo, Chiara / De Michele, Giuseppe / Filla, Alessandro / Avvedimento, Enrico V. / Varrone, Stelio et al. | 2003
- 2311
-
The HLA class III subregion is responsible for an increased breast cancer riskde Jong, Mirjam M. / Nolte, Ilja M. / de Vries, Elisabeth G. E. / Schaapveld, Michael / Kleibeuker, Jan H. / Oosterom, Elvira / Oosterwijk, Jan C. / van der Hout, Annemarie H. / van der Steege, Gerrit / Bruinenberg, Marcel et al. | 2003
- 2321
-
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseasesLee, Ji Hyun / Choi, Ji Ha / Namkung, Wan / Hanrahan, John W. / Chang, Joon / Song, Si Young / Park, Seung Woo / Kim, Dong Soo / Yoon, Joo-Heon / Suh, Yousin et al. | 2003
- 2333
-
Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory elementOlds, Lynne C. / Sibley, Eric et al. | 2003
- 2341
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Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondriaTemperley, Richard J. / Seneca, Sara H. / Tonska, Katarzyna / Bartnik, Ewa / Bindoff, Laurence A. / Lightowlers, Robert N. / Chrzanowska-Lightowlers, Zofia M.A. et al. | 2003
- 2349
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Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcomaStorlazzi, Clelia Tiziana / Mertens, Fredrik / Nascimento, Antonio / Isaksson, Margareth / Wejde, Johan / Brosjö, Otte / Mandahl, Nils / Panagopoulos, Ioannis et al. | 2003
- 2359
-
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domainGanesh, Subramaniam / Tsurutani, Naomi / Suzuki, Toshimitsu / Ueda, Kazunori / Agarwala, Kishan Lal / Osada, Hiroyuki / Delgado-Escueta, Antonio V. / Yamakawa, Kazuhiro et al. | 2003
- 2369
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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2Lefèvre, Caroline / Audebert, Stéphanie / Jobard, Florence / Bouadjar, Bakar / Lakhdar, Hakima / Boughdene-Stambouli, Omar / Blanchet-Bardon, Claudine / Heilig, Roland / Foglio, Mario / Weissenbach, Jean et al. | 2003
- 2379
-
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosisPatek, Charles E. / Fleming, Stewart / Miles, Colin G. / Bellamy, Christopher O. / Ladomery, Michael / Spraggon, Lee / Mullins, John / Hastie, Nicholas D. / Hooper, Martin L. et al. | 2003
- 2395
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An unusual N-terminal deletion of the laminin {alpha}3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeMcLean, W. H. Irwin / Irvine, Alan D. / Hamill, Kevin J. / Whittock, Neil V. / Coleman-Campbell, Carrie M. / Mellerio, Jemima E. / Ashton, Gabrielle S. / Dopping-Hepenstal, Patricia J. H. / Eady, Robin A. J. / Jamil, Tanvir et al. | 2003
- 2411
-
A unification of mosaic structures in the human genomeLercher, Martin J. / Urrutia, Araxi O. / Pavlícek, Adam / Hurst, Laurence D. et al. | 2003
- 2417
-
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndromeBitoun, Emmanuelle / Micheloni, Alessia / Lamant, Laurence / Bonnart, Chrystelle / Tartaglia-Polcini, Alessandro / Cobbold, Christian / Al Saati, Talal / Mariotti, Feliciana / Mazereeuw-Hautier, Juliette / Boralevi, Franck et al. | 2003
- 2431
-
Complexin II is essential for normal neurological function in miceGlynn, Dervila / Bortnick, Rachel A. / Morton, A. Jennifer et al. | 2003
- 2449
-
Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi networkFaucherre, Adèle / Desbois, Pierrette / Satre, Véronique / Lunardi, Joël / Dorseuil, Olivier / Gacon, Gérard et al. | 2003
- 2457
-
Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's diseaseScherzer, Clemens R. / Jensen, Roderick V. / Gullans, Steven R. / Feany, Mel B. et al. | 2003
- 2467
-
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased {alpha}7 integrin, utrophin and associated glycoproteinsMoghadaszadeh, Behzad / Albrechtsen, Reidar / Guo, Ling T. / Zaik, Michaela / Kawaguchi, Nobuko / Borup, Rehannah H. / Kronqvist, Pauliina / Schröder, Henrik D. / Davies, Kay E. / Voit, Thomas et al. | 2003
- 2481
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Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophyBrichta, L. / Hofmann, Y. / Hahnen, E. / Siebzehnrubl, F. A. / Raschke, H. / Blumcke, I. / Eyupoglu, I. Y. / Wirth, B. et al. | 2003
- 2491
-
Identification of SATB2 as the cleft palate gene on 2q32-q33FitzPatrick, David R. / Carr, Ian M. / McLaren, Lorna / Leek, Jack P. / Wightman, Patrick / Williamson, Kathy / Gautier, Philippe / McGill, Niolette / Hayward, Caroline / Firth, Helen et al. | 2003
- 2503
-
Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1Hussain, Shobbir / Witt, Emily / Huber, Pia A.J. / Medhurst, Annette L. / Ashworth, Alan / Mathew, Christopher G. et al. | 2003
- 2511
-
Significant linkage to migraine with aura on chromosome 11q24Cader, Zameel M. / Noble-Topham, Sandra / Dyment, David A. / Cherny, Stacey S. / Brown, John D. / Rice, George P.A. / Ebers, George C. et al. | 2003
- 2519
-
Increased expression of the glial glutamate transporter EAAT2 modulates excitotoxicity and delays the onset but not the outcome of ALS in miceGuo, Hong / Lai, Liching / Butchbach, Matthew E.R. / Stockinger, Michael P. / Shan, Xiu / Bishop, Georgia A. / Lin, Chien-liang Glenn et al. | 2003
- 2533
-
A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemiaKao, Jau-Tsuen / Wen, Hui-Chin / Chien, Kuo-Liong / Hsu, Hey-Chi / Lin, Shu-Wha et al. | 2003
- 2541
-
Association of TNF-{alpha} promoter polymorphisms with the clearance of hepatitis B virus infectionKim, Yoon Jun / Lee, Hyo-Suk / Yoon, Jung-Hwan / Kim, Chung Yong / Park, Myoung Hee / Kim, Lyoung Hyo / Park, Byung Lae / Shin, Hyoung Doo et al. | 2003
- 2547
-
Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporterChen, Li-Yuan / Shieh, Jeng-Jer / Lin, Baochuan / Pan, Chi-Jiunn / Gao, Ji-Liang / Murphy, Philip M. / Roe, Thomas F. / Moses, Shimon / Ward, Jerrold M. / Lee, Eric J. et al. | 2003
- 2559
-
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesisHansen, R. Scott et al. | 2003
- 2569
-
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variantsvan Heel, David A. / Dechairo, Bryan M. / Dawson, Gary / McGovern, Dermot P.B. / Negoro, Kenichi / Carey, Alisoun H. / Cardon, Lon R. / Mackay, Ian / Jewell, Derek P. / Lench, Nicholas J. et al. | 2003
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-
LD mapping of maternally and non-maternally derived alleles and atopy in Fc{varepsilon}RI-{beta}Traherne, James A. / Hill, Michael R. / Hysi, Pirro / D'Amato, Mauro / Broxholme, John / Mott, Richard / Moffatt, Miriam F. / Cookson, William O.C.M. et al. | 2003
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-
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XIHuynh, Duong P. / Scoles, Daniel R. / Nguyen, Dung / Pulst, Stefan M. et al. | 2003
- 2599
-
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease familiesPankratz, Nathan / Nichols, William C. / Uniacke, Sean K. / Halter, Cheryl / Murrell, Jill / Rudolph, Alice / Shults, Clifford W. / Conneally, P. Michael / Foroud, Tatiana / the Parkinson Study Group, et al. | 2003
- 2609
-
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophyAbu-Baker, Aida / Messaed, Christiane / Laganiere, Janet / Gaspar, Claudia / Brais, Bernard / Rouleau, Guy A. et al. | 2003
- 2625
-
Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathiesIwata, Atsushi / Maruyama, Mieko / Akagi, Takumi / Hashikawa, Tsutomu / Kanazawa, Ichiro / Tsuji, Shoji / Nukina, Nobuyuki et al. | 2003
- 2637
-
Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interferenceAbdelgany, Amr / Wood, Matthew / Beeson, David et al. | 2003
- 2645
-
Phenotypic effects of heterozygosity for a BRCA2 mutationWarren, Madhuri / Lord, Christopher J. / Masabanda, Julio / Griffin, Darren / Ashworth, Alan et al. | 2003
- 2657
-
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationHayward, Caroline / Shu, Xinhua / Cideciyan, Artur V. / Lennon, Alan / Barran, Perdita / Zareparsi, Sepideh / Sawyer, Lindsay / Hendry, Grace / Dhillon, Baljean / Milam, Ann H. et al. | 2003
- 2669
-
A reporter for amyloid precursor protein {gamma}-secretase activity in DrosophilaGuo, Ming / Hong, Elizabeth J. / Fernandes, Jolene / Zipursky, S. Larry / Hay, Bruce A. et al. | 2003
- 2679
-
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic CohortHaiman, Christopher A. / Stram, Daniel O. / Pike, Malcolm C. / Kolonel, Laurence N. / Burtt, Noel P. / Altshuler, David / Hirschhorn, Joel / Henderson, Brian E. et al. | 2003
- 2693
-
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyAntonicka, Hana / Leary, Scot C. / Guercin, Guy-Hellen / Agar, Jeffrey N. / Horvath, Rita / Kennaway, Nancy G. / Harding, Cary O. / Jaksch, Michaela / Shoubridge, Eric A. et al. | 2003
- 2703
-
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary ciliaWard, Christopher J. / Yuan, David / Masyuk, Tatyana V. / Wang, Xiaofang / Punyashthiti, Rachaneekorn / Whelan, Shelly / Bacallao, Robert / Torra, Roser / LaRusso, Nicholas F. / Torres, Vicente E. et al. | 2003
- 2711
-
Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeresAlonso, Alicia / Mahmood, Radma / Li, Shulan / Cheung, Fanny / Yoda, Kinya / Warburton, Peter E. et al. | 2003
- 2723
-
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genesHorsthemke, Bernhard / Nazlican, Hülya / Hüsing, Johannes / Klein-Hitpaß, Ludger / Claussen, Uwe / Michel, Susanne / Lich, Christina / Gillessen-Kaesbach, Gabriele / Buiting, Karin et al. | 2003
- 2733
-
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factorsMorabia, Alfredo / Cayanis, Eftihia / Costanza, Michael C. / Ross, Barbara M. / Flaherty, Maria Sol / Alvin, Gabriela B. / Das, Kamna / Gilliam, T. Conrad et al. | 2003
- 2745
-
Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart StudyWilk, Jemma B. / DeStefano, Anita L. / Joost, Oscar / Myers, Richard H. / Cupples, L. Adrienne / Slater, Karen / Atwood, Larry D. / Heard-Costa, Nancy L. / Herbert, Alan / O'Connor, George T. et al. | 2003
- 2753
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Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common featureWang, Jiou / Slunt, Hilda / Gonzales, Victoria / Fromholt, David / Coonfield, Michael / Copeland, Neal G. / Jenkins, Nancy A. / Borchelt, David R. et al. | 2003
- 2765
-
Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulinSaunders, Aleister J. / Bertram, Lars / Mullin, Kristina / Sampson, Andrew J. / Latifzai, Khushal / Basu, Sanjay / Jones, Jennifer / Kinney, Devon / MacKenzie-Ingano, Laura / Yu, Stephen et al. | 2003
- 2777
-
Transgenic overexpression of caveolin-3 in the heart induces a cardiomyopathic phenotypeAravamudan, Bharathi / Volonte, Daniela / Ramani, Ravi / Gursoy, Erdal / Lisanti, Michael P. / London, Barry / Galbiati, Ferruccio et al. | 2003
- 2789
-
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1Watase, Kei / Venken, Koen J. T. / Sun, Yaling / Orr, Harry T. / Zoghbi, Huda Y. et al. | 2003
- 2797
-
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereociliaKarolyi, I. Jill / Probst, Frank J. / Beyer, Lisa / Odeh, Hana / Dootz, Gary / Cha, Kelly B. / Martin, Donna M. / Avraham, Karen B. / Kohrman, David / Dolan, David F. et al. | 2003
- 2807
-
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexesMacedo, Maria G. / Anar, Burcu / Bronner, Iraad F. / Cannella, Milena / Squitieri, Ferdinando / Bonifati, Vincenzo / Hoogeveen, André / Heutink, Peter / Rizzu, Patrizia et al. | 2003
- 2817
-
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)Nimmakayalu, Manjunath A. / Gotter, Anthony L. / Shaikh, Tamim H. / Emanuel, Beverly S. et al. | 2003
- 2827
-
Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatumRégulier, Etienne / Trottier, Yvon / Perrin, Valérie / Aebischer, Patrick / Déglon, Nicole et al. | 2003
- 2837
-
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseasesSiitonen, H. Annika / Kopra, Outi / Kääriäinen, Helena / Haravuori, Henna / Winter, Robin M. / Säämänen, Anna-Marja / Peltonen, Leena / Kestilä, Marjo et al. | 2003
- 2845
-
Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformaticsScheel, Hartmut / Tomiuk, Stefan / Hofmann, Kay et al. | 2003
- 2853
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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of {alpha}-dystroglycanLongman, Cheryl / Brockington, Martin / Torelli, Silvia / Jimenez-Mallebrera, Cecilia / Kennedy, Colin / Khalil, Nofal / Feng, Lucy / Saran, Ravindra K. / Voit, Thomas / Merlini, Luciano et al. | 2003
- 2863
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A central nervous system specific mouse model for thanatophoric dysplasia type IILin, Ti / Sandusky, Stacey B. / Xue, Haipeng / Fishbein, Kenneth W. / Spencer, Richard G. / Rao, Mahendra S. / Francomano, Clair A. et al. | 2003
- 2873
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Methylation imprints of the imprint control region of the SNRPN-gene in human gametes and preimplantation embryosGeuns, Elke / De Rycke, Martine / Van Steirteghem, André / Liebaers, Inge et al. | 2003
- 2881
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Gene expression variation in the adult human retinaChowers, Itay / Liu, Dongmei / Farkas, Ronald H. / Gunatilaka, Tushara L. / Hackam, Abigail S. / Bernstein, Steven L. / Campochiaro, Peter A. / Parmigiani, Giovanni / Zack, Donald J. et al. | 2003
- 2895
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Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiationWinokur, Sara T. / Chen, Yi-Wen / Masny, Peter S. / Martin, Jorge H. / Ehmsen, Jeffrey T. / Tapscott, Stephen J. / van der Maarel, Silvere M. / Hayashi, Yukiko / Flanigan, Kevin M. et al. | 2003
- 2909
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Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4qJiang, Guanchao / Yang, Fan / van Overveld, Petra G. M. / Vedanarayanan, Vettaikorumakankav / van der Maarel, Silvere / Ehrlich, Melanie et al. | 2003
- 2923
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Interaction between a peroxisome proliferator-activated receptor {gamma} gene polymorphism and dietary fat intake in relation to body massMemisoglu, Asli / Hu, Frank B. / Hankinson, Susan E. / Manson, JoAnn E. / De Vivo, Immaculata / Willett, Walter C. / Hunter, David J. et al. | 2003
- 2931
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Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair folliclesCui, Chang-Yi / Durmowicz, Meredith / Ottolenghi, Chris / Hashimoto, Tsuyoshi / Griggs, Bradley / Srivastava, Anand K. / Schlessinger, David et al. | 2003
- 2941
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Mutation of a transcriptional motif of a distant regulatory element reduces the expression of embryonic and fetal globin genesNavas, Patrick A. / Swank, Richard A. / Yu, Man / Peterson, Kenneth R. / Stamatoyannopoulos, George et al. | 2003
- 2949
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Genetic background regulates {beta}-amyloid precursor protein processing and {beta}-amyloid deposition in the mouseLehman, Emily J.H. / Kulnane, Laura Shapiro / Gao, Yuan / Petriello, Michelle C. / Pimpis, Karen M. / Younkin, Linda / Dolios, Georgia / Wang, Rong / Younkin, Steven G. / Lamb, Bruce T. et al. | 2003
- 2957
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RING finger 1 mutations in Parkin produce altered localization of the proteinCookson, Mark R. / Lockhart, Paul J. / McLendon, Chris / O'Farrell, Casey / Schlossmacher, Michael / Farrer, Matthew J. et al. | 2003
- 2967
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Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domainsLavoie, Hugo / Debeane, François / Trinh, Quoc-Dien / Turcotte, Jean-François / Corbeil-Girard, Louis-Philippe / Dicaire, Marie-Josée / Saint-Denis, Anik / Pagé, Martin / Rouleau, Guy A. / Brais, Bernard et al. | 2003
- 2981
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NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid dropletsCaldas, Hugo / Herman, Gail E. et al. | 2003
- 2993
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Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1Saleem, Ramsey A. / Banerjee-Basu, Sharmila / Berry, Fred B. / Baxevanis, Andreas D. / Walter, Michael A. et al. | 2003
- 3007
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E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cellsSuriano, Gianpaolo / Oliveira, Maria José / Huntsman, David / Mateus, Ana Rita / Ferreira, Paulo / Casares, Fernando / Oliveira, Carla / Carneiro, Fátima / Machado, José Carlos / Mareel, Marc et al. | 2003
- 3017
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Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de MeledaChimienti, Fabrice / Hogg, Ronald C. / Plantard, Laure / Lehmann, Caroline / Brakch, Noureddine / Fischer, Judith / Huber, Marcel / Bertrand, Daniel / Hohl, Daniel et al. | 2003
- 3025
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Co-duplication of olfactory receptor and MHC class I genes in the mouse major histocompatibility complexAmadou, Claire / Younger, Ruth M. / Sims, Sarah / Matthews, Lucy H. / Rogers, Jane / Kumánovics, Attila / Ziegler, Andreas / Beck, Stephan / Fischer Lindahl, Kirsten et al. | 2003
- 3043
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A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dogLingaas, Frode / Comstock, Kenine E. / Kirkness, Ewen F. / Sørensen, Anita / Aarskaug, Tone / Hitte, Christophe / Nickerson, Michael L. / Moe, Lars / Schmidt, Laura S. / Thomas, Rachael et al. | 2003
- 3055
-
A frameshifting mutation in CHRNE unmasks skipping of the preceding exonOhno, Kinji / Milone, Margherita / Shen, Xin-Ming / Engel, Andrew G. et al. | 2003
- 3067
-
The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporterChen, Li-Sheng / Tassone, Flora / Sahota, Parminder / Hagerman, Paul J. et al. | 2003
- 3075
-
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c geneJohnson, Kenneth R. / Gagnon, Leona H. / Webb, Lisa S. / Peters, Luanne L. / Hawes, Norman L. / Chang, Bo / Zheng, Qing Yin et al. | 2003
- 3087
-
Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPsMazroui, Rachid / Huot, Marc-Etienne / Tremblay, Sandra / Boilard, Nathalie / Labelle, Yves / Khandjian, Edouard W. et al. | 2003
- 3097
-
Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathyLe Corvoisier, Philippe / Park, Hyun-Young / Carlson, Kerri M. / Marchuk, Douglas A. / Rockman, Howard A. et al. | 2003
- 3109
-
Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patternsCraig, Jeffrey M. / Earle, Elizabeth / Canham, Paul / Wong, Lee H. / Anderson, Melissa / Choo, K.H. Andy et al. | 2003
- 3123
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Paternal imprints can be established on the maternal Igf2-H19 locus without altering replication timing of DNACerrato, Flavia / Dean, Wendy / Davies, Karen / Kagotani, Kazuhiro / Mitsuya, Kohzoh / Okumura, Katsuzumi / Riccio, Andrea / Reik, Wolf et al. | 2003
- 3133
-
Fine mapping of the {alpha}-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigreesErtekin-Taner, Nilüfer / Ronald, James / Asahara, Hideaki / Younkin, Linda / Hella, Maria / Jain, Shushant / Gnida, Eugene / Younkin, Samuel / Fadale, Daniel / Ohyagi, Yasumasa et al. | 2003
- 3145
-
The usefulness of different density SNP maps for disease association studies of common variantsWang, William Y. S. / Todd, John A. et al. | 2003
- 3151
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Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effectsHennah, William / Varilo, Teppo / Kestilä, Marjo / Paunio, Tiina / Arajärvi, Ritva / Haukka, Jari / Parker, Alex / Martin, Rory / Levitzky, Steve / Partonen, Timo et al. | 2003
- 3161
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Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulationFernández-Sánchez, Maria Elena / Criado-García, Olga / Heath, Karen E. / García-Fojeda, Belén / Medraño-Fernández, Iria / Gomez-Garre, Pilar / Sanz, Pascual / Serratosa, José María / Rodríguez de Córdoba, Santiago et al. | 2003
- 3173
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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)de Pontual, Loïc / Népote, Virginie / Attié-Bitach, Tania / Al Halabiah, Hassan / Trang, Ha / Elghouzzi, Vincent / Levacher, Béatrice / Benihoud, Karim / Augé, Joëlle / Faure, Christophe et al. | 2003
- 3181
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Plectin 5'-transcript diversity: short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoformsRezniczek, Günther A. / Abrahamsberg, Christina / Fuchs, Peter / Spazierer, Daniel / Wiche, Gerhard et al. | 2003
- 3195
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The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activityBurnett, Barrington / Li, Fusheng / Pittman, Randall N. et al. | 2003
- 3207
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Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)Fitze, Guido / Appelt, Hella / König, Inke R. / Görgens, Heike / Stein, Ulrike / Walther, Wolfgang / Gossen, Manfred / Schreiber, Matthias / Ziegler, Andreas / Roesner, Dietmar et al. | 2003
- 3215
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PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23Ahmed, Zubair M. / Riazuddin, Saima / Ahmad, Jamil / Bernstein, Steve L. / Guo, Yan / Sabar, Muhammad F. / Sieving, Paul / Riazuddin, Sheikh / Griffith, Andrew J. / Friedman, Thomas B. et al. | 2003
- 3225
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Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11Francks, Clyde / DeLisi, Lynn E. / Shaw, Sarah H. / Fisher, Simon E. / Richardson, Alex J. / Stein, John F. / Monaco, Anthony P. et al. | 2003
- 3231
-
Autophagy regulates the processing of amino terminal huntingtin fragmentsQin, Zheng-Hong / Wang, Yumei / Kegel, Kimberly B. / Kazantsev, Aleksey / Apostol, Barbara L. / Thompson, Leslie Michels / Yoder, Jennifer / Aronin, Neil / DiFiglia, Marian et al. | 2003
- 3245
-
Classifying the estrogen receptor status of breast cancers by expression profiles reveals a poor prognosis subpopulation exhibiting high expression of the ERBB2 receptorKun, Yu / How, Lee Chee / Hoon, Tan Puay / Bajic, Vladimir B. / Lam, Tan Sin / Aggarwal, Amit / Sze, Hong Ga / Bok, Wee Siew / Yin, Wong Chow / Tan, Patrick et al. | 2003
- 3259
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Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson diseaseLi, Yi-Ju / Oliveira, Sofia A. / Xu, Puting / Martin, Eden R. / Stenger, Judith E. / Scherzer, Clemens R. / Hauser, Michael A. / Scott, William K. / Small, Gary W. / Nance, Martha A. et al. | 2003
- 3269
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Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal developmentBlack, Graeme C.M. / Mazerolle, Chantal J. / Wang, Yaping / Campsall, Katrina D. / Petrin, Dino / Leonard, Brian C. / Damji, Karim F. / Evans, D. Gareth / McLeod, David / Wallace, Valerie A. et al. | 2003
- 3277
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Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertensionMachado, Rajiv D. / Rudarakanchana, Nung / Atkinson, Carl / Flanagan, Julia A. / Harrison, Rachel / Morrell, Nicholas W. / Trembath, Richard C. et al. | 2003
- 3287
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Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilisPlantard, Laure / Huber, Marcel / Macari, Francoise / Meda, Paolo / Hohl, Daniel et al. | 2003
- 3295
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Phosphorylation influences the translation state of FMRP-associated polyribosomesCeman, Stephanie / O'Donnell, William T. / Reed, Matt / Patton, Stephana / Pohl, Jan / Warren, Stephen T. et al. | 2003
- 3307
-
Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreasMaestro, Miguel A. / Boj, Sylvia F. / Luco, Reini F. / Pierreux, Christophe E. / Cabedo, Judit / Servitja, Joan M. / German, Michael S. / Rousseau, Guy G. / Lemaigre, Frédéric P. / Ferrer, Jorge et al. | 2003
- 3315
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Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large familySchultz, Dennis W. / Klein, Michael L. / Humpert, Andrea J. / Luzier, Christina W. / Persun, Vesna / Schain, Mitchell / Mahan, Alison / Runckel, Charles / Cassera, Maria / Vittal, Vasavi et al. | 2003
- 3325
-
Impact of selection, mutation rate and genetic drift on human genetic variationSunyaev, Shamil / Kondrashov, Fyodor A. / Bork, Peer / Ramensky, Vasily et al. | 2003
- 3331
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Reduction in frataxin causes progressive accumulation of mitochondrial damageKarthikeyan, Gopalakrishnan / Santos, Janine H. / Graziewicz, Maria A. / Copeland, William C. / Isaya, Grazia / Houten, Bennett Van / Resnick, Michael A. et al. | 2003
- 3343
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Promoter-restricted H3 Lys 4 di-methylation is an epigenetic mark for monoallelic expressionRougeulle, Claire / Navarro, Pablo / Avner, Philip et al. | 2003