Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy (English)
- New search for: Pujol, A.
- New search for: Hindelang, C.
- New search for: Callizot, N.
- New search for: Bartsch, U.
- New search for: Schachner, M.
- New search for: Mandel, J. L.
- New search for: Pujol, A.
- New search for: Hindelang, C.
- New search for: Callizot, N.
- New search for: Bartsch, U.
- New search for: Schachner, M.
- New search for: Mandel, J. L.
In:
HUMAN MOLECULAR GENETICS
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11
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499-506
;
2002
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ISSN:
- Article (Journal) / Print
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Title:Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy
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Contributors:Pujol, A. ( author ) / Hindelang, C. ( author ) / Callizot, N. ( author ) / Bartsch, U. ( author ) / Schachner, M. ( author ) / Mandel, J. L. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 11 ; 499-506
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Publisher:
- New search for: OXFORD UNIVERSITY PRESS
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Publication date:2002-01-01
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Size:8 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 11
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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Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expressionDe Angelis, E. / Watkins, A. / Schafer, M. / Brummendorf, T. / Kenwrick, S. et al. | 2002
- 13
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Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regionsWatanabe, Y. / Fujiyama, A. / Ichiba, Y. / Hattori, M. / Yada, T. / Sakaki, Y. / Ikemura, T. et al. | 2002
- 23
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The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genesJagla, W. M. / Jagle, H. / Hayashi, T. / Sharpe, L. T. / Deeb, S. S. et al. | 2002
- 33
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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaJamieson, R. V. / Perveen, R. / Kerr, B. / Carette, M. / Yardley, J. / Heon, E. / Wirth, M. G. / van Heyningen, V. / Donnai, D. / Munier, F. et al. | 2002
- 43
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Acute regression of advanced and retardation of early aortic atheroma in immunocompetent apolipoprotein-E (apoE) deficient mice by administration of a second generation [E1^-, E3^-, polymerase^-] adenovirus vector expressing human apoEHarris, J. D. / Graham, I. R. / Schepelmann, S. / Stannard, A. K. / Roberts, M. L. / Hodges, B. L. / Hill, V. J. / Amalfitano, A. / Hassall, D. G. / Owen, J. S. et al. | 2002
- 59
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Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cellsScheffers, M. S. / Le, H. / van der Bent, P. / Leonhard, W. / Prins, F. / Spruit, L. / Breuning, M. H. / de Heer, E. / Peters, D. J. M. et al. | 2002
- 69
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Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosisSchulze, K. M. M. / Hanemann, C. O. / Muller, H. W. / Hanenberg, H. et al. | 2002
- 77
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Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19Takada, S. / Paulsen, M. / Tevendale, M. / Tsai, C.-E. / Kelsey, G. / Cattanach, B. M. / Ferguson-Smith, A. C. et al. | 2002
- 87
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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChakarova, C. F. / Hims, M. M. / Bolz, H. / Abu-Safieh, L. / Patel, R. J. / Papaioannou, M. G. / Inglehearn, C. F. / Keen, T. J. / Willis, C. / Moore, A. T. et al. | 2002
- 93
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Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?Rossoll, W. / Kroning, A.-K. / Ohndorf, U.-M. / Steegborn, C. / Jablonka, S. / Sendtner, M. et al. | 2002
- 107
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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Jobard, F. / Lefevre, C. / Karaduman, A. / Blanchet-Bardon, C. / Emre, S. / Weissenbach, J. / Ozguc, M. / Lathrop, M. / Prud homme, J.-F. / Fischer, J. et al. | 2002
- 115
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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturationShahbazian, M. D. / Antalffy, B. / Armstrong, D. L. / Zoghbi, H. Y. et al. | 2002
- 125
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Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapyBroackes-Carter, F. C. / Mouchel, N. / Gill, D. / Hyde, S. / Bassett, J. / Harris, A. et al. | 2002
- 133
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High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brainLin, M. T. / Simon, D. K. / Ahn, C. H. / Kim, L. M. / Beal, M. F. et al. | 2002
- 147
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Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivationFreson, K. / Matthijs, G. / Thys, C. / Marien, P. / Hoylaerts, M. F. / Vermylen, J. / Van Geet, C. et al. | 2002
- 153
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Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamicsErrico, A. / Ballabio, A. / Rugarli, E. et al. | 2002
- 165
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Identification of a new copper metabolism gene by positional cloning in a purebred dog populationvan de Sluis, B. / Rothuizen, J. / Pearson, P. L. / van Oost, B. A. / Wijmenga, C. et al. | 2002
- 175
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Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interferenceCaplen, N. J. / Taylor, J. P. / Statham, V. S. / Tanaka, F. / Fire, A. / Morgan, R. A. et al. | 2002
- 185
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Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patientsGirouard, J. / Giguere, Y. / Delage, R. / Rousseau, F. et al. | 2002
- 191
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Somatic expansion behaviour of the (CTG)~n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteinsvan den Broek, W. J. A. A. / Nelen, M. R. / Wansink, D. G. / Coerwinkel, M. M. / Riele, H. t. / Groenen, P. J. T. A. / Wieringa, B. et al. | 2002
- 199
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Molecular classification of primary breast tumors possessing distinct prognostic propertiesIwao, K. / Matoba, R. / Ueno, N. / Ando, A. / Miyoshi, Y. / Matsubara, K. / Noguchi, S. / Kato, K. et al. | 2002
- 207
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Direct measurement of the male recombinant fraction in the human beta-globin hot spotSchneider, J. A. / Peto, T. E. A. / Boone, R. A. / Boyce, A. J. / Clegg, J. B. et al. | 2002
- 217
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Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxiaCavadini, P. / O Neill, H. A. / Benada, O. / Isaya, G. et al. | 2002
- 229
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Modifier effect of ENOS in autosomal dominant polycystic kidney diseasePersu, A. / Stoenoiu, M. S. / Messiaen, T. / Davila, S. / Robino, C. / El-Khattabi, O. / Mourad, M. / Horie, S. / Feron, O. / Balligand, J.-L. et al. | 2002
- 243
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The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectricsDickinson, P. / Smith, S. N. / Webb, S. / Kilanowski, F. M. / Campbell, I. J. / Taylor, M. S. / Porteous, D. J. / Willemsen, R. / de Jonge, H. R. / Farley, R. et al. | 2002
- 253
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Neurodevelopmental defects resulting from ATRX overexpression in transgenic miceBerube, N. G. / Jagla, M. / Smeenk, C. / De Repentigny, Y. / Kothary, R. / Picketts, D. J. et al. | 2002
- 263
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A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx micePorter, J. D. / Khanna, S. / Kaminski, H. J. / Rao, J. S. / Merriam, A. P. / Richmonds, C. R. / Leahy, P. / Li, J. / Guo, W. / Andrade, F. H. et al. | 2002
- 273
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Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null miceKoomen, M. / Cheng, N. C. / van de Vrugt, H. J. / Godthelp, B. C. / van der Valk, M. A. / Oostra, A. B. / Zdzienicka, M. Z. / Joenje, H. / Arwert, F. et al. | 2002
- 283
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Folic acid prevents exencephaly in Cited2 deficient miceBarbera, J. P. M. / Rodriguez, T. A. / Greene, N. D. E. / Weninger, W. J. / Simeone, A. / Copp, A. J. / Beddington, R. S. P. / Dunwoodie, S. et al. | 2002
- 295
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Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12Vitale, E. / Cook, S. / Sun, R. / Specchia, C. / Subramanian, K. / Rocchi, M. / Nathanson, D. / Schwalb, M. / Devoto, M. / Rohowsky-Kochan, C. et al. | 2002
- 301
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Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormoneManna, P. R. / Joshi, L. / Reinhold, V. N. / Aubert, M. L. / Suganuma, N. / Pettersson, K. / Huhtaniemi, I. T. et al. | 2002
- 317
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The relationship between somatic mtDNA rearrangements, human heart disease and agingKajander, O. A. / Karhunen, P. J. / Jacobs, H. T. et al. | 2002
- 325
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Functional characterization of mutations in the GDNF gene of patients with Hirchsprung diseaseEketjall, S. / Ibanez, C. F. et al. | 2002
- 331
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The human intronless melanocortin 4-receptor gene is NMD insensitiveBrocke, K. S. / Neu-Yilik, G. / Gehring, N. H. / Hentze, M. W. / Kulozik, A. E. et al. | 2002
- 337
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Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndromeVatta, M. / Dumaine, R. / Varghese, G. / Richard, T. A. / Shimizu, W. / Aihara, N. / Nademanee, K. / Brugada, R. / Brugada, J. / Veerakul, G. et al. | 2002
- 451
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Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from humanClark, F. / Thanaraj, T. A. et al. | 2002
- 465
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A candidate molecular mechanism for the association of an intronic polymorphism of FE65 with resistance to very late onset dementia of the Alzheimer typeHu, Q. / Cool, B. H. / Wang, B. / Hearn, M. G. / Martin, G. M. et al. | 2002
- 477
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Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complexRoesch, K. / Curran, S. P. / Tranebjaerg, L. / Koehler, C. M. et al. | 2002
- 487
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Knockout mouse model for Fxr2: a model for mental retardationBontekoe, C. J. M. / McIlwain, K. L. / Nieuwenhuizen, I. M. / Yuva-Paylor, L. A. / Nellis, A. / Willemsen, R. / Fang, Z. / Kirkpatrick, L. / Bakker, C. E. / McAninch, R. et al. | 2002
- 499
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Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathyPujol, A. / Hindelang, C. / Callizot, N. / Bartsch, U. / Schachner, M. / Mandel, J. L. et al. | 2002
- 507
-
A Gja8 (Cx50) point mutation causes an alteration of alpha3 connexin (Cx46) in semi-dominant cataracts of Lop10 miceChang, B. / Wang, X. / Hawes, N. L. / Ojakian, R. / Davisson, M. T. / Lo, W.-K. / Gong, X. et al. | 2002
- 515
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Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophyBailey, C. K. / Andriola, I. F. M. / Kampinga, H. H. / Merry, D. E. et al. | 2002
- 525
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A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cellsKwiatkowski, D. J. / Zhang, H. / Bandura, J. L. / Heiberger, K. M. / Glogauer, M. / el-Hashemite, N. / Onda, H. et al. | 2002
- 1683
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Different evolutionary processes shaped the mouse and human olfactory receptor gene familiesYoung, Janet M. / Friedman, Cynthia / Williams, Eleanor M. / Ross, Joseph A. / Tonnes-Priddy, Lori / Trask, Barbara J. et al. | 2002
- 547
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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho^-^/^- miceKennan, A. / Aherne, A. / Palfi, A. / Humphries, M. / McKee, A. / Stitt, A. / Simpson, D. A. C. / Demtroder, K. / Orntoft, T. / Ayuso, C. et al. | 2002
- 559
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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaBowne, S. J. / Sullivan, L. S. / Blanton, S. H. / Cepko, C. L. / Blackshaw, S. / Birch, D. G. / Hughbanks-Wheaton, D. / Heckenlively, J. R. / Daiger, S. P. et al. | 2002
- 569
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The role of matrix metalloproteinase polymorphisms in the rate of decline in lung functionJoos, L. / He, J.-Q. / Shepherdson, M. B. / Connett, J. E. / Anthonisen, N. R. / Pare, P. D. / Sandford, A. J. et al. | 2002
- 577
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SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2beta1Young, P. J. / DiDonato, C. J. / Hu, D. / Kothary, R. / Androphy, E. J. / Lorson, C. L. et al. | 2002
- 589
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Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locusAsumalahti, K. / Veal, C. / Laitinen, T. / Suomela, S. / Allen, M. / Elomaa, O. / Moser, M. / de Cid, R. / Ripatti, S. / Vorechovsky, I. et al. | 2002
- 599
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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiencyWestphal, V. / Kjaergaard, S. / Schollen, E. / Martens, K. / Grunewald, S. / Schwartz, M. / Matthijs, G. / Freeze, H. H. et al. | 2002
- 605
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Mutations in the RPGR gene cause X-linked cone dystrophyYang, Z. / Peachey, N. S. / Moshfeghi, D. M. / Thirumalaichary, S. / Chorich, L. / Shugart, Y. Y. / Fan, K. / Zhang, K. et al. | 2002
- 613
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STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair studyDuetsch, G. / Illig, T. / Loesgen, S. / Rohde, K. / Klopp, N. / Herbon, N. / Gohlke, H. / Altmueller, J. / Wjst, M. et al. | 2002
- 623
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Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypesSilverman, E. K. / Mosley, J. D. / Palmer, L. J. / Barth, M. / Senter, J. M. / Brown, A. / Drazen, J. M. / Kwiatkowski, D. J. / Chapman, H. A. / Campbell, E. J. et al. | 2002
- 633
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Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in miceWheeler, V. C. / Gutekunst, C.-A. / Vrbanac, V. / Lebel, L.-A. / Schilling, G. / Hersch, S. / Friedlander, R. M. / Gusella, J. F. / Vonsattel, J.-P. / Borchelt, D. R. et al. | 2002
- 641
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Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2; 3)(q35; q21)Bodmer, D. / Eleveld, M. / Kater-Baats, E. / Janssen, I. / Janssen, B. / Weterman, M. / Schoenmakers, E. / Nickerson, M. / Linehan, M. / Zbar, B. et al. | 2002
- 651
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WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosisGuo, J.-K. / Menke, A. L. / Gubler, M.-C. / Clarke, A. R. / Harrison, D. / Hammes, A. / Hastie, N. D. / Schedl, A. et al. | 2002
- 661
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Mapping of autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2Alkhateeb, A. / Stetler, G. L. / Old, W. / Talbert, J. / Uhlhorn, C. / Taylor, M. / Fox, A. / Miller, C. / Dills, D. G. / Ridgway, E. C. et al. | 2002
- 669
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Classification of common conserved sequences in mammalian intergenic regionsKondrashov, A. S. / Shabalina, S. A. et al. | 2002
- 675
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The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survivial of glioblastoma multiforme patientsCartron, P.-F. / Oliver, L. / Martin, S. / Moreau, C. / LeCabellec, M.-T. / Jezequel, P. / Meflah, K. / Vallette, F. M. et al. | 2002
- 689
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Linkage analysis of anorexia nervosa incorporating behavioral covariatesDevlin, B. / Bacanu, S.-A. / Klump, K. L. / Bulik, C. M. / Fichter, M. M. / Halmi, K. A. / Kaplan, A. S. / Strober, M. / Treasure, J. / Woodside, D. B. et al. | 2002
- 697
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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingZhang, Q. / Li, W. / Novak, E. K. / Karim, A. / Mishra, V. S. / Kingsmore, S. F. / Roe, B. A. / Suzuki, T. / Swank, R. T. et al. | 2002
- 707
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Sequence dependent instability of mononuclectide microsatellites in cultured mismatch repair proficient and deficient mammalian cellsBoyer, J. C. / Yamada, N. A. / Roques, C. N. / Hatch, S. R. / Riess, K. / Farber, R. A. et al. | 2002
- 715
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Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalusIbanez-Tallon, I. / Gorokhova, S. / Heintz, N. et al. | 2002
- 723
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Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter regionDi Bitondo, R. / Hall, A. J. / Peake, I. R. / Iacoviello, L. / Winship, P. R. et al. | 2002
- 733
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Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx miceFabb, S. A. / Wells, D. J. / Serpente, P. / Dickson, G. et al. | 2002
- 743
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A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndromeEspinoza, H. M. / Cox, C. J. / Semina, E. V. / Amendt, B. A. et al. | 2002
- 755
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Novel ENU-induced eye mutations in the mouse: models for human eye diseaseThaung, C. / West, K. / Clark, B. J. / McKie, L. / Morgan, J. E. / Arnold, K. / Nolan, P. M. / Peters, J. / Hunter, A. J. / Brown, S. D. M. et al. | 2002
- 769
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A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathiesLloyd, D. J. / Trembath, R. C. / Shackleton, S. et al. | 2002
- 779
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Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidusMarr, N. / Bichet, D. G. / Lonergan, M. / Arthus, M.-F. / Jeck, N. / Seyberth, H. W. / Rosenthal, W. / van Os, C. H. / Oksche, A. / Deen, P. M. T. et al. | 2002
- 791
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Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse spermZhang, Y. / Monckton, D. G. / Siciliano, M. J. / Connor, T. H. / Meistrich, M. L. et al. | 2002
- 799
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Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Duijf, P. H. G. / Vanmolkot, K. R. J. / Propping, P. / Friedl, W. / Krieger, E. / McKeon, F. / Dotsch, V. / Brunner, H. G. / van Bokhoven, H. et al. | 2002
- 805
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Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cellsFardaei, M. / Rogers, M. T. / Thorpe, H. M. / Larkin, K. / Hamshere, M. G. / Harper, P. S. / Brook, J. D. et al. | 2002
- 815
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Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitroShoichet, S. A. / Baumer, A. T. / Stamenkovic, D. / Sauer, H. / Pfeiffer, A. F. H. / Kahn, C. R. / Muller-Wieland, D. / Richter, C. / Ristow, M. et al. | 2002
- 823
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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retinavan der Spuy, J. / Chapple, J. P. / Clark, B. J. / Luthert, P. J. / Sethi, C. S. / Cheetham, M. E. et al. | 2002
- 833
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)Hamada, T. / McLean, W. H. I. / Ramsay, M. / Ashton, G. H. S. / Nanda, A. / Jenkins, T. / Edelstein, I. / South, A. P. / Bleck, O. / Wessagowit, V. et al. | 2002
- 841
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Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutationsWarren, M. / Smith, A. / Partridge, N. / Masabanda, J. / Griffin, D. / Ashworth, A. et al. | 2002
- 853
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Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)Rees, M. I. / Lewis, T. M. / Kwok, J. B. J. / Mortier, G. R. / Govaert, P. / Snell, R. G. / Schofield, P. R. / Owen, M. J. et al. | 2002
- 863
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Gene expression profiles of poor-prognosis primary breast cancer correlate with survivalBertueci, F. / Nasser, V. / Granjeaud, S. / Eisinger, F. / Adelaide, J. / Tagett, R. / Loriod, B. / Giaconia, A. / Benziane, A. / Devilard, E. et al. | 2002
- 873
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Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophyChen, S. / Wang, Q.-L. / Xu, S. / Liu, I. / Li, L. Y. / Wang, Y. / Zack, D. J. et al. | 2002
- 885
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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 proteinIsosomppi, J. / Vesa, J. / Jalanko, A. / Peltonen, L. et al. | 2002
- 893
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Activation of the beta-like globin genes in transgenic mice is dependent on the presence of the beta-locus control regionNavas, P. A. / Li, Q. / Peterson, K. R. / Swank, R. A. / Rohde, A. / Roy, J. / Stamatoyannopoulos, G. et al. | 2002
- 905
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Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD miceYu, Z.-X. / Li, S.-H. / Nguyen, H.-P. / Li, X.-J. et al. | 2002
- 915
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Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathwaysVitelli, F. / Morishima, M. / Taddei, I. / Lindsay, E. A. / Baldini, A. et al. | 2002
- 923
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Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesisBukanov, N. O. / Husson, H. / Dackowski, W. R. / Lawrence, B. D. / Clow, P. A. / Roberts, B. L. / Klinger, K. W. / Ibraghimov-Beskrovnaya, O. et al. | 2002
- 937
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PLUNC: A novel family of candidate host defence proteins expressed in the upper airways and nasopharynxBingle, C. D. / Craven, C. J. et al. | 2002
- 945
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Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behaviorChan, E. Y. W. / Nasir, J. / Gutekunst, C.-A. / Coleman, S. / Maclean, A. / Maas, A. / Metzler, M. / Gertsenstein, M. / Ross, C. A. / Nagy, A. et al. | 2002
- 961
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Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorderWise, C. A. / Gillum, J. D. / Seidman, C. E. / Lindor, N. M. / Veile, R. / Bashiardes, S. / Lovett, M. et al. | 2002
- 971
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Mutations in TITF-1 are associated with benign hereditary choreaBreedveld, G. J. / van Dongen, J. W. F. / Danesino, C. / Guala, A. / Percy, A. K. / Dure, L. S. / Harper, P. / Lazarou, L. P. / van der Linde, H. / Joosse, M. et al. | 2002
- 981
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, T. / Poirier, K. / Friocourt, G. / Bahi, N. / Beaumont, D. / Fauchereau, F. / Jeema, L. B. / Zemni, R. / Vinet, M.-C. / Francis, F. et al. | 2002
- 993
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Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degenerationZhang, Q. / Acland, G. M. / Wu, W. X. / Johnson, J. L. / Pearce-Kelling, S. / Tulloch, B. / Vervoort, R. / Wright, A. F. / Aguirre, G. D. et al. | 2002
- 1005
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Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin geneMcNally, N. / Kenna, P. F. / Rancourt, D. / Ahmed, T. / Stitt, A. / Colledge, W. H. / Lloyd, D. G. / Palfi, A. / O Neill, B. / Humphries, M. M. et al. | 2002
- 1017
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A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophyLefebvre, S. / Burlet, P. / Viollet, L. / Bertrandy, S. / Huber, C. / Belser, C. / Munnich, A. et al. | 2002
- 1029
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VSX1: A gene for posterior polymorphous dystropy and keratoconusHeon, E. / Greenberg, A. / Kopp, K. K. / Rootman, D. / Vincent, A. L. / Billingsley, G. / Priston, M. / Dorval, K. M. / Chow, R. L. / McInnes, R. R. et al. | 2002
- 1037
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Identification of a novel family of presenilin homologuesPonting, C. P. / Hutton, M. / Nyborg, A. / Baker, M. / Jansen, K. / Golde, T. E. et al. | 2002
- 1045
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Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1Sato, S. / Nakamura, M. / Cho, D. H. / Tapscott, S. J. / Ozaki, H. / Kawakami, K. et al. | 2002
- 1059
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Gene complementation of airway epithelium in the cystic fibrosis mouse is necessary and sufficient to correct the pathogen clearance and inflammatory abnormalitiesOceandy, D. / McMorran, B. J. / Smith, S. N. / Schreiber, R. / Kunzelmann, K. / Alton, E. W. F. W. / Hume, D. A. / Wainwright, B. J. et al. | 2002
- 1069
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A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)Mardh, C. K. / Backman, B. / Holmgren, G. / Hu, J. C.-C. / Simmer, J. P. / Forsman-Semb, K. et al. | 2002
- 1075
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YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficitCemal, C. K. / Carroll, C. J. / Lawrence, L. / Lowrie, M. B. / Ruddle, P. / Al-Mahdawi, S. / King, R. H. M. / Pook, M. A. / Huxley, C. / Chamberlain, S. et al. | 2002
- 1095
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Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin-glycoprotein complex and partially prevents dystrophyWarner, L. E. / DelloRusso, C. / Crawford, R. W. / Rybakova, I. N. / Patel, J. R. / Ervasti, J. M. / Chamberlain, J. S. et al. | 2002
- 1107
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Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagyRavikumar, B. / Duden, R. / Rubinsztein, D. C. et al. | 2002
- 1119
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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsyMorante-Redolat, J. M. / Gorostidi-Pagola, A. / Piquer-Sirerol, S. / Saenz, A. / Poza, J. J. / Galan, J. / Gesk, S. / Sarafidou, T. / Mautner, V.-F. / Binelli, S. et al. | 2002
- 1129
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Pallister-Hall syndrome phenotype in mice mutant for Gli3Bose, J. / Grotewold, L. / Ruther, U. et al. | 2002
- 1137
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Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtinWyttenbach, A. / Sauvageot, O. / Carmichael, J. / Diaz-Latoud, C. / Arrigo, A.-P. / Rubinsztein, D. C. et al. | 2002
- 1153
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The sense of smell: genomics of vertebrate odorant receptorsYoung, Janet M. / Trask, Barbara J. et al. | 2002
- 1161
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PAX6 in sensory developmentvan Heyningen, Veronica / Williamson, Kathleen A. et al. | 2002
- 1169
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Molecular genetics of Leber congenital amaurosisCremers, Frans P. M. / van den Hurk, José A. J. M. / den Hollander, Anneke I. et al. | 2002
- 1177
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Molecular genetics of Axenfeld-Rieger malformationsLines, Matthew A. / Kozlowski, Kathy / Walter, Michael A. et al. | 2002
- 1185
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Anterior segment dysgenesis and the developmental glaucomas are complex traitsGould, Douglas B. / John, Simon W. M. et al. | 2002
- 1195
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Genetic modifiers of vision and hearingHaider, Neena B. / Ikeda, Akihiro / Naggert, Jürgen K. / Nishina, Patsy M. et al. | 2002
- 1207
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Retinal development in Drosophila: specifying the first neuronHsiung, Frank / Moses, Kevin et al. | 2002
- 1215
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Studies of mechanosensation using the flyJarman, Andrew P. et al. | 2002
- 1219
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Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patternsRivolta, Carlo / Sharon, Dror / DeAngelis, Margaret M. / Dryja, Thaddeus P. et al. | 2002
- 1229
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Genetics, genomics and gene discovery in the auditory systemMorton, Cynthia C. et al. | 2002
- 1241
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Understanding anesthesia: making genetic sense of the absence of sensesHumphrey, John A. / Sedensky, Margaret M. / Morgan, Phil G. et al. | 2002
- 1251
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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in miceGanesh, Subramaniam / Delgado-Escueta, Antonio V. / Sakamoto, Toshiro / Avila, Maria Rosa / Machado-Salas, Jesus / Hoshii, Yoshinobu / Akagi, Takumi / Gomi, Hiroshi / Suzuki, Toshimitsu / Amano, Kenji et al. | 2002
- 1263
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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeGanesh, Subramaniam / Delgado-Escueta, Antonio V. / Suzuki, Toshimitsu / Francheschetti, Silvana / Riggio, Concetta / Avanzini, Giuiliano / Rabinowicz, Adrian / Bohlega, Saeed / Bailey, Julia / Alonso, Maria E. et al. | 2002
- 1273
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Germline mutation of ARF in a melanoma kindredHewitt, Chelsee / Lee Wu, Chu / Evans, Gareth / Howell, A. / Elles, Robert G. / Jordan, Richard / Sloan, Philip / Read, Andrew P. / Thakker, Nalin et al. | 2002
- 1281
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Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-{kappa}B transcription factorsvan Heel, David A. / Udalova, Irina A. / De Silva, Arjuna P. / McGovern, Dermot P. / Kinouchi, Yoshitaka / Hull, Jeremy / Lench, Nicholas J. / Cardon, Lon R. / Carey, Alisoun H. / Jewell, Derek P. et al. | 2002
- 1291
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Optimedin: a novel olfactomedin-related protein that interacts with myocilinTorrado, Mario / Trivedi, Ritu / Zinovieva, Rina / Karavanova, Irina / Tomarev, Stanislav I. et al. | 2002
- 1303
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Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeKariola, Reetta / Raevaara, Tiina E. / Lönnqvist, Karin E. / Nyström-Lahti, Minna et al. | 2002
- 1311
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A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinGottfried, Irit / Landau, Marina / Glaser, Fabian / Di, Wei-Li / Ophir, Joseph / Mevorah, Barukh / Ben-Tal, Nir / Kelsell, David P. / Avraham, Karen B. et al. | 2002
- 1317
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeWeksberg, Rosanna / Shuman, Cheryl / Caluseriu, Oana / Smith, Adam C. / Fei, Yan-Ling / Nishikawa, Joy / Stockley, Tracy L. / Best, Lyle / Chitayat, David / Olney, Ann et al. | 2002
- 1327
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CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5qNathanson, Katherine L. / Shugart, Yin Y. / Omaruddin, Romaica / Szabo, Csilla / Goldgar, David / Rebbeck, Timothy R. / Weber, Barbara L. et al. | 2002
- 1333
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Protein localization in the human eye and genetic screen of opticinFriedman, James S. / Faucher, Mathieu / Hiscott, Paul / Biron, Vincent L. / Malenfant, Mario / Turcotte, Pierre / Raymond, Vincent / Walter, Michael A. et al. | 2002
- 1343
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Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profilingMyerowitz, Rachel / Lawson, Douglas / Mizukami, Hiroki / Mi, Yide / Tifft, Cynthia J. / Proia, Richard L. et al. | 2002
- 1351
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The mitochondrial protein frataxin prevents nuclear damageKarthikeyan, Gopalakrishnan / Lewis, L. Kevin / Resnick, Michael A. et al. | 2002
- 1363
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Can long-range microsatellite data be used to predict short-range linkage disequilibrium?Schulze, Thomas G. / Chen, Yu-Sheng / Akula, Nirmala / Hennessy, Kathleen / Badner, Judith A. / McInnis, Melvin G. / DePaulo, J. Raymond / Schumacher, Johannes / Cichon, Sven / Propping, Peter et al. | 2002
- 1373
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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. / B.K., Thelma / Ferrell, Robert E. / Middleton, Frank A. et al. | 2002
- 1381
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Population differences in haplotype structure within a human olfactory receptor gene clusterMenashe, Idan / Man, Orna / Lancet, Doron / Gilad, Yoav et al. | 2002
- 1391
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The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRABaxter, E. Joanna / Hochhaus, Andreas / Bolufer, Pascual / Reiter, Andreas / Fernandez, José M. / Senent, Leonor / Cervera, José / Moscardo, Federico / Sanz, Miguel A. / Cross, Nicholas C.P. et al. | 2002
- 1399
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Variants in DNA double-strand break repair genes and breast cancer susceptibilityKuschel, Bettina / Auranen, Annika / McBride, Simon / Novik, Karen L. / Antoniou, Antonis / Lipscombe, Julian M. / Day, Nicholas E. / Easton, Douglas F. / Ponder, Bruce A.J. / Pharoah, Paul D.P. et al. | 2002
- 1409
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Sex differences in sex chromosome gene expression in mouse brainXu, Jun / Burgoyne, Paul S. / Arnold, Arthur P. et al. | 2002
- 1421
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An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten diseaseChattopadhyay, Subrata / Ito, Masumi / Cooper, Jonathan D. / Brooks, Andrew I. / Curran, Timothy M. / Powers, James M. / Pearce, David A. et al. | 2002
- 1433
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A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancerRafii, Saeed / O'Regan, Paul / Xinarianos, George / Azmy, Iman / Stephenson, Tim / Reed, Malcolm / Meuth, Mark / Thacker, John / Cox, Angela et al. | 2002
- 1439
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Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse modelCifuentes-Diaz, Carmen / Nicole, Sophie / Velasco, Maria E. / Borra-Cebrian, Christophe / Panozzo, Cristina / Frugier, Tony / Millet, Gaelle / Roblot, Natacha / Joshi, Vandana / Melki, Judith et al. | 2002
- 1449
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Promoter switch: a novel mechanism causing biallelic PEG1/MEST expression in invasive breast cancerPedersen, Inge Søkilde / Dervan, Peter / McGoldrick, Alo / Harrison, Michèle / Ponchel, Frederique / Speirs, Valerie / Isaacs, John D. / Gorey, Thomas / McCann, Amanda et al. | 2002
- 1455
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Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in micede Geest, Natalie / Bonten, Erik / Mann, Linda / de Sousa-Hitzler, Jean / Hahn, Christopher / d'Azzo, Alessandra et al. | 2002
- 1465
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Genotype-phenotype correlation in inherited severe insulin resistanceLongo, Nicola / Wang, Yuhuan / Smith, Shelley A. / Langley, Sharon D. / DiMeglio, Linda A. / Giannella-Neto, Daniel et al. | 2002
- 1477
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Common haplotypes in five genes influence genetic variance of LDL and HDL cholesterol in the general populationKnoblauch, Hans / Bauerfeind, Anja / Krähenbühl, Christine / Daury, Aurelie / Rohde, Klaus / Bejanin, Stéphane / Essioux, Laurent / Schuster, Herbert / Luft, Friedrich C. / Georg Reich, Jens et al. | 2002
- 1487
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Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cellsDorsman, Josephine C. / Pepers, Barry / Langenberg, Dennis / Kerkdijk, Henri / Ijszenga, Marije / den Dunnen, Johan T. / Roos, R.A.C. / van Ommen, Gert-Jan B. et al. | 2002
- 1497
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Growth arrest by the LKB1 tumor suppressor: induction of p21WAF1/CIP1Tiainen, Marianne / Vaahtomeri, Kari / Ylikorkala, Antti / Mäkelä, Tomi P. et al. | 2002
- 1505
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Polyglutamine aggregates stimulate ER stress signals and caspase-12 activationKouroku, Yoriko / Fujita, Eriko / Jimbo, Atsushi / Kikuchi, Tateki / Yamagata, Takanori / Momoi, Mariko Y. / Kominami, Eiki / Kuida, Keisuke / Sakamaki, Kazuhiro / Yonehara, Shin et al. | 2002
- 1517
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Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertensionRudarakanchana, Nung / Flanagan, Julia A. / Chen, Hailan / Upton, Paul D. / Machado, Rajiv / Patel, D. / Trembath, Richard C. / Morrell, Nicholas W. et al. | 2002
- 1527
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Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome regionCavaillé, Jérôme / Seitz, Hervé / Paulsen, Martina / Ferguson-Smith, Anne C. / Bachellerie, Jean-Pierre et al. | 2002
- 1539
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Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish populationBradley, M. / Söderhäll, C. / Luthman, H. / Wahlgren, C.-F. / Kockum, I. / Nordenskjöld, M. et al. | 2002
- 1549
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The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the {beta}-catenin signaling cascadeAlbuquerque, Cristina / Breukel, Cor / van der Luijt, Rob / Fidalgo, Paulo / Lage, Pedro / Slors, Frederik J.M. / Leitão, C. Nobre / Fodde, Riccardo / Smits, Ron et al. | 2002
- 1561
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Common exon duplication in animals and its role in alternative splicingLetunic, Ivica / Copley, Richard R. / Bork, Peer et al. | 2002
- 1569
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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1Berger, Philipp / Bonneick, Sonja / Willi, Susan / Wymann, Matthias / Suter, Ueli et al. | 2002
- 1581
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Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control studyPoulton, Joanna / Luan, Jian'an / Macaulay, Vincent / Hennings, Susie / Mitchell, Jo / Wareham, Nicholas J. et al. | 2002
- 1585
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Genetic susceptibility to childhood common acute lymphoblastic leukaemia is associated with polymorphic peptide-binding pocket profiles in HLA-DPB1*0201Malcolm Taylor, G. / Dearden, Simon / Ravetto, Paul / Ayres, Michelle / Watson, Pamela / Hussain, Adiba / Greaves, Mel / Alexander, Freda / Eden, Osborn B. / UKCCS Investigators, et al. | 2002
- 1599
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Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11-13 in African familiesCervino, Alessandra C. L. / Lakiss, Said / Sow, Oumou / Bellamy, Richard / Beyers, Nulda / Hoal-van Helden, Eileen / van Helden, Paul / McAdam, Keith P. W. J. / Hill, Adrian V. S. et al. | 2002
- 1605
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Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and developmentFan, Li / Simard, Louise R. et al. | 2002
- 1615
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In vivo electrotransfer of the cardiotrophin-1 gene into skeletal muscle slows down progression of motor neuron degeneration in pmn miceLesbordes, Jeanne-Claire / Bordet, Thierry / Haase, Georg / Castelnau-Ptakhine, Laetitia / Rouhani, Saïd / Gilgenkrantz, Helène / Kahn, Axel et al. | 2002
- 1627
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An evolutionarily conserved putative insulator element near the 3' boundary of the imprinted Igf2/H19 domainIshihara, Ko / Sasaki, Hiroyuki et al. | 2002
- 1637
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Muscle as a putative producer of acid {alpha}-glucosidase for glycogenosis type II gene therapyMartin-Touaux, E. / Puech, J.P. / Château, D. / Emiliani, C. / Kremer, E.J. / Raben, N. / Tancini, B. / Orlacchio, A. / Kahn, A. / Poenaru, L. et al. | 2002
- 1647
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The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouseMendoza-Lujambio, Irene / Burfeind, Peter / Dixkens, Christa / Meinhardt, Andreas / Hoyer-Fender, Sigrid / Engel, Wolfgang / Neesen, Juergen et al. | 2002
- 1659
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Evidence for translational regulation of the imprinted Snurf-Snrpn locus in miceTsai, Ting-Fen / Chen, Ken-Shiung / Weber, John S. / Justice, Monica J. / Beaudet, Arthur L. et al. | 2002
- 1669
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Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathySasarman, Florin / Karpati, George / Shoubridge, Eric A. et al. | 2002
- 1685
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A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8qCichon, Sven / Schumacher, Johannes / Müller, Daniel J. / Hürter, Martina / Windemuth, Christine / Strauch, Konstantin / Hemmer, Susanne / Schulze, Thomas G. / Schmidt-Wolf, Gabriele / Albus, Margot et al. | 2002
- 1687
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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. | 2002
- 1697
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The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombinationSantucci-Darmanin, Sabine / Neyton, Sophie / Lespinasse, Françoise / Saunières, Anne / Gaudray, Patrick / Paquis-Flucklinger, Véronique et al. | 2002
- 1707
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Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplicationsHerzing, Laura B.K. / Cook, Edwin H. / Ledbetter, David H. et al. | 2002
- 1719
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Stable micro-dystrophin gene transfer using an integrating adeno-retroviral hybrid vector ameliorates the dystrophic pathology in mdx mouse muscleRoberts, Michael L. / Wells, Dominic J. / Graham, Ian R. / Fabb, Stewart A. / Hill, Vanessa J. / Duisit, Ghislaine / Yuasa, Katsutoshi / Takeda, Shin'ichi / Cosset, François-Loïc / Dickson, George et al. | 2002
- 1731
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Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutantMuto, Satoru / Aiba, Atsu / Saito, Yuichirou / Nakao, Kazuki / Nakamura, Kenji / Tomita, Kyoichi / Kitamura, Tadaichi / Kurabayashi, Masahiko / Nagai, Ryozo / Higashihara, Eiji et al. | 2002
- 1743
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Identification and characterization of an imprinted antisnese RNA (MESTIT1) in the human MEST locus on chromosome 7q32Nakabayashi, K. / Bentley, L. / Hitchins, M. P. / Mitsuya, K. / Meguro, M. / Minagawa, S. / Bamforth, J. S. / Stanier, P. / Preece, M. / Weksberg, R. et al. | 2002
- 1743
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Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32Nakabayashi, Kazuhiko / Bentley, Louise / Hitchins, Megan P. / Mitsuya, Kohzoh / Meguro, Makiko / Minagawa, Sachi / Bamforth, John S. / Stanier, Philip / Preece, Michael / Weksberg, Rosanna et al. | 2002
- 1757
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A common protein interaction domain links two recently identified epilepsy genesScheel, Hartmut / Tomiuk, Stefan / Hofmann, Kay et al. | 2002
- 1763
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EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-Ai transgenic miceCui, C.-Y. / Durmowicz, M. / Tanaka, T. S. / Hartung, A. J. / Tezuka, T. / Hashimoto, K. / Ko, M. S. H. / Srivastava, A. K. / Schlessinger, D. et al. | 2002
- 1763
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EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic miceCui, Chang-Yi / Durmowicz, Meredith / Tanaka, Tetsuya S. / Hartung, Andrew J. / Tezuka, Tadashi / Hashimoto, Ken / Ko, Minoru S.H. / Srivastava, Anand K. / Schlessinger, David et al. | 2002
- 1775
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Osteopenia and male-specific sudden cardiac death in mice lacking a zinc transporter gene, Znt5Inoue, Koichi / Matsuda, Koichi / Itoh, Makoto / Kawaguchi, Hiroshi / Tomoike, Hitonobu / Aoyagi, Teruhiko / Nagai, Ryozo / Hori, Masatsugu / Nakamura, Yusuke / Tanaka, Toshihiro et al. | 2002
- 1785
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SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin {beta}Narayanan, Usha / Ospina, Jason K. / Frey, Mark R. / Hebert, Michael D. / Matera, A. Gregory et al. | 2002
- 1797
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Metabolic consequences of a novel missense mutation of the mtDNA CO I geneVarlamov, Dmitry A. / Kudin, Alexei P. / Vielhaber, Stefan / Schröder, Rolf / Sassen, Robert / Becker, Albert / Kunz, Dagmar / Haug, Karsten / Rebstock, Johannes / Heils, Armin et al. | 2002
- 1797
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Metabolic concequences of a novel missense mutation of the mtDNA CO I geneVarlamov, D. A. / Kudin, A. P. / Vielhaber, S. / Schroder, R. / Sassen, R. / Becker, A. / Kunz, D. / Haug, K. / Rebstock, J. / Heils, A. et al. | 2002
- 1807
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Spectrin-like repeats from dystrophin and {alpha}-actinin-2 are not functionally interchangeableHarper, Scott Q. / Crawford, Robert W. / DelloRusso, Christiana / Chamberlain, Jeffrey S. et al. | 2002
- 1817
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Experimental analysis of the annotation of promoters in the public databaseColeman, Sharon L. / Buckland, Paul R. / Hoogendoorn, Bastiaan / Guy, Carol / Smith, Kaye / O'Donovan, Michael C. et al. | 2002
- 1823
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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3Sidjanin, Duska J. / Lowe, Jennifer K. / McElwee, John L. / Milne, Bruce S. / Phippen, Taryn M. / Sargan, David R. / Aguirre, Gustavo D. / Acland, Gregory M. / Ostrander, Elaine A. et al. | 2002
- 1835
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Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegiaChen, Xin Jie et al. | 2002
- 1845
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Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney diseaseWu, Guanqing / Tian, Xin / Nishimura, Sayoko / Markowitz, Glen S. / D'Agati, Vivette / Hoon Park, Jong / Yao, Lili / Li, Li / Geng, Lin / Zhao, Hongyu et al. | 2002
- 1855
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Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in miceHaston, Christina K. / Wang, Min / Dejournett, Robert E. / Zhou, Xinhui / Ni, Dan / Gu, Xiangjun / King, Terri M. / Weil, Michael M. / Newman, Robert A. / Amos, Christopher I. et al. | 2002
- 1865
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A structural approach to understanding the iron-binding properties of phylogenetically different frataxinsAdinolfi, S. / Trifuoggi, M. / Politou, A. S. / Martin, S. / Pastore, A. et al. | 2002
- 1879
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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6Kameya, Shuhei / Hawes, Norman L. / Chang, Bo / Heckenlively, John R. / Naggert, Jürgen K. / Nishina, Patsy M. et al. | 2002
- 1887
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Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6Mitchem, Kristina L. / Hibbard, Ellen / Beyer, Lisa A. / Bosom, Ken / Dootz, Gary A. / Dolan, David F. / Johnson, Kenneth R. / Raphael, Yehoash / Kohrman, David C. et al. | 2002
- 1899
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Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among speciesMavlyutov, Timur A. / Zhao, Haiyan / Ferreira, Paulo A. et al. | 2002
- 1909
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Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array GroupOrr, Harry T. et al. | 2002
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Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brainLuthi-Carter, Ruth / Hanson, Sarah A. / Strand, Andrew D. / Bergstrom, Donald A. / Chun, Wanjoo / Peters, Nikki L. / Woods, Annette M. / Chan, Edmond Y. / Kooperberg, Charles / Krainc, Dimitri et al. | 2002
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Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effectsLuthi-Carter, Ruth / Strand, Andrew D. / Hanson, Sarah A. / Kooperberg, Charles / Schilling, Gabriele / La Spada, Albert R. / Merry, Diane E. / Young, Anne B. / Ross, Christopher A. / Borchelt, David R. et al. | 2002
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Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's diseaseChan, Edmond Y.W. / Luthi-Carter, Ruth / Strand, Andrew / Solano, Steven M. / Hanson, Sarah A. / DeJohn, Molly M. / Kooperberg, Charles / Chase, Kathryn O. / DiFiglia, Marian / Young, Anne B. et al. | 2002
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Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analysesSipione, Simonetta / Rigamonti, Dorotea / Valenza, Marta / Zuccato, Chiara / Conti, Luciano / Pritchard, Joel / Kooperberg, Charles / Olson, James M. / Cattaneo, Elena et al. | 2002
- 1967
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Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptorLieberman, Andrew P. / Harmison, George / Strand, Andrew D. / Olson, James M. / Fischbeck, Kenneth H. et al. | 2002
- 1977
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A regression-based method to identify differentially expressed genes in microarray time course studies and its application in an inducible Huntington's disease transgenic modelXu, Xie L. / Olson, James M. / Zhao, Lue Ping et al. | 2002
- 1987
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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genomeEstivill, Xavier / Cheung, Joseph / Angel Pujana, Miguel / Nakabayashi, Kazuhiko / Scherer, Stephen W. / Tsui, Lap-Chee et al. | 2002
- 1997
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A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanismChallis, Benjamin G. / Pritchard, Lynn E. / Creemers, John W.M. / Delplanque, Jerome / Keogh, Julia M. / Luan, Jian'an / Wareham, Nicholas J. / Yeo, Giles S.H. / Bhattacharyya, Sumit / Froguel, Phillipe et al. | 2002
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Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsDi, Wei-Li / Monypenny, James / Common, John E.A. / Kennedy, Cameron T.C. / Holland, Katalin A. / Leigh, Irene M. / Rugg, Elizabeth L. / Zicha, Daniel / Kelsell, David P. et al. | 2002
- 2015
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Specific haplotypes of the P-selectin gene are associated with myocardial infarctionTregouet, David-Alexandre / Barbaux, Sandrine / Escolano, Sylvie / Tahri, Nadia / Golmard, Jean-Louis / Tiret, Laurence / Cambien, François et al. | 2002
- 2025
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The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteinsMühlenhoff, Ulrich / Richhardt, Nadine / Ristow, Michael / Kispal, Gyula / Lill, Roland et al. | 2002
- 2037
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hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-{beta}1Hofmann, Yvonne / Wirth, Brunhilde et al. | 2002
- 2051
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A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateCastanet, Mireille / Park, Soo-Mi / Smith, Aaron / Bost, Michel / Léger, Juliane / Lyonnet, Stanislas / Pelet, Anna / Czernichow, Paul / Chatterjee, Krishna / Polak, Michel et al. | 2002
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Differential gene expression in a cell culture model of SOD1-related familial motor neurone diseaseKirby, Janine / Menzies, Fiona M. / Cookson, Mark R. / Bushby, Katherine / Shaw, Pamela J. et al. | 2002
- 2077
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Founder TIGR/myocilin mutations for glaucoma in the Quebec populationFaucher, Mathieu / Anctil, Jean-Louis / Rodrigue, Marc-André / Duchesne, Annie / Bergeron, Dan / Blondeau, Pierre / Côté, Gilles / Dubois, Stéphane / Bergeron, Josée / Arseneault, Rose et al. | 2002
- 2091
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Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cellsTao, Qian / Huang, He / Geiman, Theresa M. / Lim, Chai Yen / Fu, Li / Qiu, Guo-Hua / Robertson, Keith D. et al. | 2002
- 2103
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A mouse model of spinal and bulbar muscular atrophyMcManamny, Patrick / Chy, Hun S. / Finkelstein, David I. / Craythorn, Rebecca G. / Crack, Peter J. / Kola, Ismail / Cheema, Surindar S. / Horne, Malcolm K. / Wreford, Nigel G. / O'Bryan, Moira K. et al. | 2002
- 2113
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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxaLoeys, Bart / Van Maldergem, Lionel / Mortier, Geert / Coucke, Paul / Gerniers, Sabine / Naeyaert, Jean-Marie / De Paepe, Anne et al. | 2002
- 2119
-
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, Tim / Hegde, Madhuri / Naot, Dorit / Chong, Belinda / King, Alan / Wallace, Robyn / Mulley, John / Love, Donald R. / Seidel, Joerg / Fawkner, Matthew et al. | 2002
- 2129
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Motifs within the CLN3 protein: modulation of cell growth rates and apoptosisPersaud-Sawin, Dixie-Ann N. W. / VanDongen, Antonius / Boustany, Rose-Mary N. et al. | 2002
- 2143
-
Identification of the autoantigen SART-1 as a candidate gene for the development of atopyWheatley, Amanda P. / Bolland, Daniel J. / Hewitt, Jane E. / Dewar, Jane C. / Hall, Ian P. et al. | 2002
- 2147
-
{zeta}-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophyWheeler, Matthew T. / Zarnegar, Sara / McNally, Elizabeth M. et al. | 2002
- 2147
-
xi-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophyWheeler, M. T. / Zarnegar, S. / McNally, E. M. et al. | 2002
- 2155
-
Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in miceSun, Mao-Sen / Pan, Chi-Jiunn / Shieh, Jeng-Jer / Ghosh, Abhijit / Chen, Li-Yuan / Mansfield, Brian C. / Ward, Jerrold M. / Byrne, Barry J. / Chou, Janice Yang et al. | 2002
- 2165
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Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndromeBihoreau, Marie-Thérèse / Megel, Natalia / Brown, Joanna H. / Kränzlin, Bettina / Crombez, Laurence / Tychinskaya, Yulia / Broxholme, John / Kratz, Susanne / Bergmann, Volker / Hoffman, Sigrid et al. | 2002
- 2175
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The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractionsSharma, Rajesh / Bhatti, Saeeda / Gomez, Mariluz / Clark, Rhonda M. / Murray, Cynthia / Ashizawa, Tetsuo / Bidichandani, Sanjay I. et al. | 2002
- 2189
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Defects in homologous recombination repair in mismatch-repair-deficient tumour cell linesMohindra, Atul / Hays, Laura E. / Phillips, Eric N. / Preston, Bradley D. / Helleday, Thomas / Meuth, Mark et al. | 2002
- 2201
-
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfectaMillington-Ward, Sophia / Allers, Carolina / Tuohy, Gearóid / Conget, Paulette / Allen, Danny / McMahon, Helena P. / Kenna, Paul F. / Humphries, Peter / Farrar, G. Jane et al. | 2002
- 2207
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Estimating the statistical significance of gene expression changes observed with oligonucleotide arraysStrand, Andrew D. / Olson, James M. / Kooperberg, Charles et al. | 2002
- 2223
-
Evaluating test statistics to select interesting genes in microarray experimentsKooperberg, Charles / Sipione, Simonetta / LeBlanc, Michael / Strand, Andrew D. / Cattaneo, Elena / Olson, James M. et al. | 2002
- 2233
-
Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in miceFossale, Elisa / Wheeler, Vanessa C. / Vrbanac, Vladimir / Lebel, Lori-Anne / Teed, Allison / Mysore, Jayalakshmi S. / Gusella, James F. / MacDonald, Marcy E. / Persichetti, Francesca et al. | 2002
- 2243
-
PRODH mutations and hyperprolinemia in a subset of schizophrenic patientsJacquet, Hélène / Raux, Grégory / Thibaut, Florence / Hecketsweiler, Bernadette / Houy, Emmanuelle / Demilly, Caroline / Haouzir, Sadeq / Allio, Gabrielle / Fouldrin, Gael / Drouin, Valérie et al. | 2002
- 2251
-
Multiple susceptibility loci for multiple sclerosisThe Multiple Sclerosis Genetics Group, / Haines, Jonathan L. / Bradford, Yuki / Garcia, Melissa E. / Reed, Allison D. / Neumeister, Elizabeth / Pericak-Vance, Margaret A. / Rimmler, Jacqueline B. / Menold, Marissa M. / Martin, Eden R. et al. | 2002
- 2257
-
Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24Saarela, Janna / Schoenberg Fejzo, Marlena / Chen, Daniel / Finnilä, Saara / Parkkonen, Maikki / Kuokkanen, Satu / Sobel, Eric / Tienari, Pentti J. / Sumelahti, Marja-Liisa / Wikström, Juhani et al. | 2002
- 2269
-
Nucleocytoplasmic transfer of the NF2 tumor suppressor protein merlin is regulated by exon 2 and a CRM1-dependent nuclear export signal in exon 15Kressel, Michael / Schmucker, Beatrice et al. | 2002
- 2279
-
Modulation of polyglutamine-induced cell death by genes identified by expression profilingKita, Hiroko / Carmichael, Jenny / Swartz, Jina / Muro, Shizuko / Wyttenbach, Andreas / Matsubara, Kenichi / Rubinsztein, David C. / Kato, Kikuya et al. | 2002
- 2289
-
Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal womenAlbagha, Omar M.E. / Tasker, Paul N. / McGuigan, Fiona E.A. / Reid, David M. / Ralston, Stuart H et al. | 2002
- 2297
-
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cellsBuj-Bello, Anna / Furling, Denis / Tronchère, Hélène / Laporte, Jocelyn / Lerouge, Thierry / Butler-Browne, Gillian S. / Mandel, Jean-Louis et al. | 2002
- 2309
-
Mutations of the GREAT gene cause cryptorchidismGorlov, Ivan P. / Kamat, Aparna / Bogatcheva, Natalia V. / Jones, Eric / Lamb, Dolores J. / Truong, Anne / Bishop, Colin E. / McElreavey, Ken / Agoulnik, Alexander I. et al. | 2002
- 2319
-
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not CenpcSaxena, Alka / Wong, Lee H. / Kalitsis, Paul / Earle, Elizabeth / Shaffer, Lisa G. / Choo, K.H. Andy et al. | 2002
- 2331
-
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lgGrubenmann, Claudia E. / Frank, Christian G. / Kjaergaard, Susanne / Berger, Eric G. / Aebi, Markus / Hennet, Thierry et al. | 2002
- 2341
-
Functional substitution for TAFII250 by a retroposed homolog that is expressed in human spermatogenesisWang, P. Jeremy / Page, David C. et al. | 2002
- 2347
-
The pressure rises: update on the genetics of phaeochromocytomaMaher, Eamonn R. / Eng, Charis et al. | 2002
- 2355
-
Gene therapy of muscular dystrophyChamberlain, Jeffrey S. et al. | 2002
- 2363
-
DiGeorge syndrome: the use of model organisms to dissect complex geneticsBaldini, Antonio et al. | 2002
- 2371
-
The NF-{kappa}B signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromesSmahi, Asma / Courtois, Gilles / Rabia, Smail Hadj / Döffinger, Rainer / Bodemer, Christine / Munnich, Arnold / Casanova, Jean-Laurent / Israël, Alain et al. | 2002
- 2377
-
Molecular genetics of calcium sensing in bone cellsPurroy, Jesús / Spurr, Nigel K. et al. | 2002
- 2385
-
Molecular genetics of too much boneJanssens, Katrien / Van Hul, Wim et al. | 2002
- 2395
-
Impaired dopamine storage resulting from {alpha}-synuclein mutations may contribute to the pathogenesis of Parkinson's diseaseLotharius, Julie / Brundin, Patrik et al. | 2002
- 2409
-
Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genomeStamm, Stefan et al. | 2002
- 2417
-
The allelic architecture of human disease genes: common disease-common variant... or not?Pritchard, Jonathan K. / Cox, Nancy J. et al. | 2002
- 2425
-
Ion channels: structural bioinformatics and modellingCapener, Charlotte E. / Kim, Hyun Ji / Arinaminpathy, Yalini / Sansom, Mark S.P. et al. | 2002
- 2435
-
Ion channel diseasesHübner, Christian A. / Jentsch, Thomas J. et al. | 2002
- 2447
-
Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complexFranchitto, Annapaola / Pichierri, Pietro et al. | 2002
- 2455
-
The allelic structure of common diseaseSmith, Desmond J. / Lusis, Aldons J. et al. | 2002
- 2463
-
Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humansCordell, Heather J. et al. | 2002
- 2469
-
Susceptibility to malaria as a complex trait: big pressure from a tiny creatureFortin, A. / Stevenson, M.M. / Gros, P. et al. | 2002
- 2479
-
Cancer epigenomicsPlass, Christoph et al. | 2002
- 2489
-
Understanding familial and non-familial renal cell cancerBodmer, Daniëlle / van den Hurk, Wilhelmina / van Groningen, Jan J. M. / Eleveld, Marc J. / Martens, Gerard J. M. / Weterman, Marian A. J. / Geurts van Kessel, Ad et al. | 2002
- 2499
-
Phenotypic diversity in hypertrophic cardiomyopathyArad, Michael / Seidman, J.G. / Seidman, Christine E. et al. | 2002
- 2507
-
Gene finding in genetically isolated populationsHeutink, Peter / Oostra, Ben A. et al. | 2002
- 2517
-
Pharmacogenomics in schizophrenia: the quest for individualized therapyBasile, Vincenzo S. / Masellis, Mario / Potkin, Steven G. / Kennedy, James L. et al. | 2002
- 2531
-
DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C proteinPichierri, Pietro / Averbeck, Dietrich / Rosselli, Filippo et al. | 2002
- 2547
-
PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brainsModregger, Jan / DiProspero, Nicholas A. / Charles, Vinod / Tagle, Danilo A. / Plomann, Markus et al. | 2002
- 2559
-
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralizationRajpar, M. Helen / Koch, Martin J. / Davies, Robin M. / Mellody, Kieran T. / Kielty, Cay M. / Dixon, Michael J. et al. | 2002
- 2567
-
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in miceD'Adamo, Patrizia / Welzl, Hans / Papadimitriou, Stavros / Raffaele di Barletta, Marina / Tiveron, Cecilia / Tatangelo, Laura / Pozzi, Laura / Chapman, Paul F. / Knevett, Simon G. / Ramsay, Mark F. et al. | 2002
- 2581
-
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversionsKoppens, Paul F.J. / Hoogenboezem, Theo / Degenhart, Herman J. et al. | 2002
- 2591
-
BRCA1 interacts directly with the Fanconi anemia protein FANCAFolias, Alexandra / Matkovic, Mara / Bruun, Donald / Reid, Sonja / Hejna, James / Grompe, Markus / D'Andrea, Alan / Moses, Robb et al. | 2002
- 2599
-
Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkageDuerr, Richard H. / Barmada, M. Michael / Zhang, Leilei / Achkar, Jean-Paul / Cho, Judy H. / Hanauer, Stephen B. / Brant, Steven R. / Bayless, Theodore M. / Baldassano, Robert N. / Weeks, Daniel E. et al. | 2002
- 2607
-
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French CaucasiansVasseur, Francis / Helbecque, Nicole / Dina, Christian / Lobbens, Stéphane / Delannoy, Valérie / Gaget, Stéphane / Boutin, Philippe / Vaxillaire, Martine / Leprêtre, Frédéric / Dupont, Sophie et al. | 2002
- 2615
-
The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for {alpha}-secretase activity in fibroblastsHartmann, Dieter / de Strooper, Bart / Serneels, Lutgarde / Craessaerts, Katleen / Herreman, An / Annaert, Wim / Umans, Lieve / Lübke, Torben / Lena Illert, Anna / von Figura, Kurt et al. | 2002
- 2625
-
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndromeRotman-Pikielny, Pnina / Hirschberg, Koret / Maruvada, Padma / Suzuki, Koichi / Royaux, Ines E. / Green, Eric D. / Kohn, Leonard D. / Lippincott-Schwartz, Jennifer / Yen, Paul M. et al. | 2002
- 2635
-
A non-essential function for yeast frataxin in iron-sulfur cluster assemblyDuby, Geoffrey / Foury, Françoise / Ramazzotti, Anna / Herrmann, Johannes / Lutz, Thomas et al. | 2002
- 2645
-
Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathologySpencer, Melissa J. / Mellgren, Ronald L. et al. | 2002
- 2657
-
Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1Kazemi-Esfarjani, Parsa / Benzer, Seymour et al. | 2002
- 2673
-
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle - eye - brain disordersHolzfeind, Paul J. / Grewal, Prabhjit K. / Reitsamer, Herbert A. / Kechvar, Jasmin / Lassmann, Hans / Hoeger, Harald / Hewitt, Jane E. / Bittner, Reginald E. et al. | 2002
- 2689
-
Aggregate formation inhibits proteasomal degradation of polyglutamine proteinsVerhoef, Lisette G.G.C. / Lindsten, Kristina / Masucci, Maria G. / Dantuma, Nico P. et al. | 2002
- 2701
-
Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophyWeinhofer, Isabelle / Forss-Petter, Sonja / Zigman, Mihaela / Berger, Johannes et al. | 2002
- 2709
-
Cln3 {Delta}ex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birthCotman, Susan L. / Vrbanac, Vladimir / Lebel, Lori-Anne / Lee, Richard L. / Johnson, Kevin A. / Donahue, Leah-Rae / Teed, Allison M. / Antonellis, Kristen / Bronson, Roderick T. / Lerner, Terry J. et al. | 2002
- 2723
-
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1Akey, Dayna T. / Zhu, Xuemei / Dyer, Michael / Li, Aimin / Sorensen, Adam / Blackshaw, Seth / Fukuda-Kamitani, Taeko / Daiger, Stephen P. / Craft, Cheryl M. / Kamitani, Tetsu et al. | 2002
- 2735
-
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's diseaseHocking, Lynne J. / Lucas, Gavin J.A. / Daroszewska, Anna / Mangion, Jon / Olavesen, Mark / Cundy, Tim / Nicholson, Geoff C. / Ward, Lynley / Bennett, Simon T. / Wuyts, Wim et al. | 2002
- 2741
-
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gs{alpha} deficiency in plateletsFreson, Kathleen / Thys, Chantal / Wittevrongel, Christine / Proesmans, Willem / Hoylaerts, Marc F. / Vermylen, Jos / Van Geet, Chris et al. | 2002
- 2751
-
Involvement of survival motor neuron (SMN) protein in cell deathVyas, Sheela / Béchade, Catherine / Riveau, Béatrice / Downward, Julian / Triller, Antoine et al. | 2002
- 2765
-
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Nav1.6)Kearney, Jennifer A. / Buchner, David A. / de Haan, Georgius / Adamska, Maja / Levin, Stephen I. / Furay, Amy R. / Albin, Roger L. / Jones, Julie M. / Montal, Mauricio / Stevens, Martin J. et al. | 2002
- 2777
-
A novel transgenic line of mice exhibiting autosomal recessive male-specific lethality and non-alcoholic fatty liver diseaseSollars, Vincent E. / McEntee, Benjamin J. / Engiles, Julie B. / Rothstein, Jay L. / Buchberg, Arthur M. et al. | 2002
- 2777
-
A novel trangenic line of mice exhibiting autosomal recessive male-specific lethality and non-alcoholic fatty liver diseaseSollars, V. E. / McEntee, B. J. / Engiles, J. B. / Rothstein, J. L. / Buchberg, A. M. et al. | 2002
- 2787
-
Functional association of the parkin gene promoter with idiopathic Parkinson's diseaseWest, Andrew B. / Maraganore, Demetrius / Crook, Julia / Lesnick, Tim / Lockhart, Paul J. / Wilkes, Kristen M. / Kapatos, Gregory / Hardy, John A. / Farrer, Matt J. et al. | 2002
- 2793
-
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patientsBraybrook, Claire / Lisgo, Steven / Doudney, Kit / Henderson, Deborah / Marçano, Ana Carolina B. / Strachan, Tom / Patton, Michael A. / Villard, Laurent / Moore, Gudrun E. / Stanier, Philip et al. | 2002
- 2805
-
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codonsPerrin-Vidoz, Laure / Sinilnikova, Olga M. / Stoppa-Lyonnet, Dominique / Lenoir, Gilbert M. / Mazoyer, Sylvie et al. | 2002
- 2815
-
HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosisSingaraja, Roshni R. / Hadano, Shinji / Metzler, Martina / Givan, Scott / Wellington, Cheryl L. / Warby, Simon / Yanai, Anat / Gutekunst, Claire-Anne / Leavitt, Blair R. / Yi, Hong et al. | 2002
- 2829
-
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitroGuipponi, Michel / Vuagniaux, Grégoire / Wattenhofer, Marie / Shibuya, Kazunori / Vazquez, Maria / Dougherty, Loretta / Scamuffa, Nathalie / Guida, Elizabeth / Okui, Michiyo / Rossier, Colette et al. | 2002
- 2837
-
Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transportBrownlees, Janet / Ackerley, Steven / Grierson, Andrew J. / Jacobsen, Nick J.O. / Shea, Kerry / Anderton, Brian H. / Leigh, P. Nigel / Shaw, Christopher E. / Miller, Christopher C.J. et al. | 2002
- 2845
-
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interactSheen, Volney L. / Feng, Yuanyi / Graham, Donna / Takafuta, Toshiro / Shapiro, Sandor S. / Walsh, Christopher A. et al. | 2002
- 2855
-
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPaseCobbold, Christian / Ponnambalam, Sreenivasan / Francis, Michael J. / Monaco, Anthony P. et al. | 2002
- 2867
-
A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornificationZeeuwen, Patrick L.J.M. / van Vlijmen-Willems, Ivonne M.J.J. / Hendriks, Wiljan / Merkx, Gerard F.M. / Schalkwijk, Joost et al. | 2002
- 2877
-
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28Peters, Linda M. / Anderson, David W. / Griffith, Andrew J. / Grundfast, Kenneth M. / San Agustin, Theresa B. / Madeo, Anne C. / Friedman, Thomas B. / Morell, Robert J. et al. | 2002
- 2887
-
Initiation of the breakage-fusion-bridge mechanism through common fragile site activation in human breast cancer cells: the model of PIP gene duplication from a break at FRA7ICiullo, Marina / Debily, Marie-Anne / Rozier, Lorène / Autiero, Monica / Billault, Alain / Mayau, Véronique / El Marhomy, Sandrine / Guardiola, John / Bernheim, Alain / Coullin, Philippe et al. | 2002
- 2895
-
Genetic modulation of polyglutamine toxicity by protein conjugation pathways in DrosophilaChan, H.Y. Edwin / Warrick, John M. / Andriola, Isabella / Merry, Diane / Bonini, Nancy M. et al. | 2002
- 2905
-
Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cellsYang, Wen / Dunlap, John R. / Andrews, Richard B. / Wetzel, Ronald et al. | 2002
- 2919
-
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophyBotta, Elena / Nardo, Tiziana / Lehmann, Alan R. / Egly, Jean-Marc / Pedrini, Antonia M. / Stefanini, Miria et al. | 2002
- 2929
-
Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learningZeniou, Maria / Ding, Thomas / Trivier, Elisabeth / Hanauer, André et al. | 2002
- 2941
-
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin BDi Giaimo, Rossella / Riccio, Massimo / Santi, Spartaco / Galeotti, Cesira / Ambrosetti, Davide C. / Melli, Marialuisa et al. | 2002
- 2951
-
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in miceOishi, Kimihiko / Hofmann, Susanna / Diaz, George A. / Brown, Tartania / Manwani, Deepa / Ng, Lily / Young, Randy / Vlassara, Helen / Ioannou, Yiannis A. / Forrest, Douglas et al. | 2002
- 2961
-
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutationsJones, Siân / Emmerson, Paul / Maynard, Julie / Best, Jacqueline M. / Jordan, Sheila / Williams, Geraint T. / Sampson, Julian R. / Cheadle, Jeremy P. et al. | 2002
- 2969
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Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotidesCox, Roger / Bouzekri, Nourdine / Martin, Sabrina / Southam, Lorraine / Hugill, Alison / Golamaully, Mahamadee / Cooper, Richard / Adeyemo, Adebowale / Soubrier, Florent / Ward, Ryk et al. | 2002
- 2979
-
Okihiro syndrome is caused by SALL4 mutationsKohlhase, Jürgen / Heinrich, Marielle / Schubert, Lucia / Liebers, Manuela / Kispert, Andreas / Laccone, Franco / Turnpenny, Peter / Winter, Robin M. / Reardon, William et al. | 2002
- 2989
-
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cellsPianese, Luigi / Busino, Luca / De Biase, Irene / de Cristofaro, Tiziana / Lo Casale, Maria S. / Giuliano, Paola / Monticelli, Antonella / Turano, Mimmo / Criscuolo, Chiara / Filla, Alessandro et al. | 2002
- 2997
-
Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat systemMomose, Shuji / Kobayashi, Toshiyuki / Mitani, Hiroaki / Hirabayashi, Masumi / Ito, Kazumi / Ueda, Masatsugu / Nabeshima, Yo-ichi / Hino, Okio et al. | 2002
- 3007
-
Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repressionMazroui, Rachid / Huot, Marc-Etienne / Tremblay, Sandra / Filion, Christine / Labelle, Yves / Khandjian, Edouard W. et al. | 2002
- 3019
-
Molecular mechanisms of autosomal recessive hypercholesterolemiaWilund, Kenneth R. / Yi, Ming / Campagna, Filomena / Arca, Marcello / Zuliani, Giovanni / Fellin, Renato / Ho, Yiu-Kee / Garcia, J. Victor / Hobbs, Helen H. / Cohen, Jonathan C. et al. | 2002
- 3031
-
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levelsPennacchio, Len A. / Olivier, Michael / Hubacek, Jaroslav A. / Krauss, Ronald M. / Rubin, Edward M. / Cohen, Jonathan C. et al. | 2002
- 3039
-
Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglyceridesTalmud, Philippa J. / Hawe, Emma / Martin, Steve / Olivier, Michael / Miller, George J. / Rubin, Edward M. / Pennacchio, Len A. / Humphries, Steve E. et al. | 2002
- 3047
-
A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcdAgoulnik, Alexander I. / Lu, Baisong / Zhu, Qichao / Truong, Cavatina / Ty, Maria T. / Arango, Nelson / Chada, Kiran K. / Bishop, Colin E. et al. | 2002
- 3055
-
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategyJauslin, Matthias L. / Wirth, Thomas / Meier, Thomas / Schoumacher, Fabrice et al. | 2002
- 3065
-
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3Grayson, Celene / Bartolini, Francesca / Chapple, J. Paul / Willison, Keith R. / Bhamidipati, Arunashree / Lewis, Sally A. / Luthert, Philip J. / Hardcastle, Alison J. / Cowan, Nicholas J. / Cheetham, Michael E. et al. | 2002
- 3075
-
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung diseaseParatore, Christian / Eichenberger, Christof / Suter, Ueli / Sommer, Lukas et al. | 2002
- 3087
-
Mutations in congenital myasthenic syndromes reveal an {varepsilon} subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChREaling, John / Webster, Richard / Brownlow, Sharon / Abdelgany, Amr / Oosterhuis, Hans / Muntoni, Francesco / Vaux, David J. / Vincent, Angela / Beeson, David et al. | 2002
- 3087
-
Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChREaling, J. / Webster, R. / Brownlow, S. / Abdelgany, A. / Oosterhuis, H. / Muntoni, F. / Vaux, D. J. / Vincent, A. / Beeson, D. et al. | 2002
- 3097
-
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisisWang, Tao / Waters, Caroline T. / Rothman, Alex M.K. / Jakins, Tracy J. / Römisch, Karin / Trump, Dorothy et al. | 2002
- 3107
-
Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgeneLoftus, Stacie K. / Erickson, Robert P. / Walkley, Steven U. / Bryant, Mark A. / Incao, Arturo / Heidenreich, Randall A. / Pavan, William J. et al. | 2002
- 3115
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndromeHouten, Sander M. / Frenkel, Joost / Rijkers, Ger T. / Wanders, Ronald J.A. / Kuis, Wietse / Waterham, Hans R. et al. | 2002
- 3125
-
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutantsAdachi, Daiki / Oda, Tsukasa / Yagasaki, Hiroshi / Nakasato, Keiko / Taniguchi, Toshiyasu / D'Andrea, Alan D. / Asano, Shigetaka / Yamashita, Takayuki et al. | 2002
- 3135
-
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesisStavropoulos, Dimitrios J. / Bradshaw, Paul S. / Li, Xiaobin / Pasic, Ivan / Truong, Kevin / Ikura, Mitsuhiko / Ungrin, Mark / Meyn, M. Stephen et al. | 2002
- 3145
-
Molecular and cytogenetic analysis of the spreading of X inactivation in X; autosome translocationsSharp, A. J. / Spotswood, H. T. / Robinson, D. O. / Turner, B. M. / Jacobs, P. A. et al. | 2002