Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release (Englisch)
- Neue Suche nach: Li, H.
- Neue Suche nach: Wyman, T.
- Neue Suche nach: Yu, Z.-X.
- Neue Suche nach: Li, S.-H.
- Neue Suche nach: Li, X.-J.
- Neue Suche nach: Li, H.
- Neue Suche nach: Wyman, T.
- Neue Suche nach: Yu, Z.-X.
- Neue Suche nach: Li, S.-H.
- Neue Suche nach: Li, X.-J.
In:
HUMAN MOLECULAR GENETICS
;
12
;
2021-2030
;
2003
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate release
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Beteiligte:
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Erschienen in:HUMAN MOLECULAR GENETICS ; 12 ; 2021-2030
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Verlag:
- Neue Suche nach: Oxford University Press
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Erscheinungsdatum:01.01.2003
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Format / Umfang:10 pages
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 572.8
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 572.8 -
Datenquelle:
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- 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