Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila (English)
- New search for: Marsh, J. L.
- New search for: Walker, H.
- New search for: Theisen, H.
- New search for: Zhu, Y. Z.
- New search for: Fielder, T.
- New search for: Purcell, J.
- New search for: Thompson, L. M.
- New search for: Marsh, J. L.
- New search for: Walker, H.
- New search for: Theisen, H.
- New search for: Zhu, Y. Z.
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In:
HUMAN MOLECULAR GENETICS
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9
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13-26
;
2000
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ISSN:
- Article (Journal) / Print
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Title:Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
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Contributors:Marsh, J. L. ( author ) / Walker, H. ( author ) / Theisen, H. ( author ) / Zhu, Y. Z. ( author ) / Fielder, T. ( author ) / Purcell, J. ( author ) / Thompson, L. M. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 9 ; 13-26
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Publisher:
- New search for: OXFORD UNIVERSITY PRESS
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Publication date:2000-01-01
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Size:14 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 9
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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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax21Neu +/- mutant micePorteous, Sarah / Torban, Elena / Cho, Nam-Pyo / Cunliffe, Heather / Chua, Lin / McNoe, Les / Ward, Teresa / Souza, Carolina / Gus, Patricia / Giugliani, Roberto et al. | 2000
- 1
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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax^1^N^e^u +/- mutant micePorteous, S. / Torban, E. / Cho, N. P. / Cunliffe, H. / Chua, L. / McNoe, L. / Ward, T. / Souza, C. / Gus, P. / Giugliani, R. et al. | 2000
- 13
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Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in DrosophilaMarsh, J. Lawrence / Walker, Heli / Theisen, Heidi / Zhu, Ya-Zhen / Fielder, Tom / Purcell, Judy / Thompson, Leslie M. et al. | 2000
- 27
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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degenerationMaw, Marion A. / Corbeil, Denis / Koch, Julia / Hellwig, Andrea / Wilson-Wheeler, Jane C. / Bridges, Robyn J. / Kumaramanickavel, Govindasamy / John, Sheila / Nancarrow, Derek / Röper, Katja et al. | 2000
- 35
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NF1 microdeletion breakpoints are clustered at flanking repetitive sequencesDorschner, Michael O. / Sybert, Virginia P. / Weaver, Molly / Pletcher, Beth A. / Stephens, Karen et al. | 2000
- 47
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Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cordPagliardini, Silvia / Giavazzi, Alessio / Setola, Veronica / Lizier, Carlotta / Di Luca, Monica / DeBiasi, Silvia / Battaglia, Giorgio et al. | 2000
- 57
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Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations--the ECTIM StudyLambert, Jean-Charles / Brousseau, Thierry / Defosse, Véronique / Evans, Alun / Arveiler, Dominique / Ruidavets, Jean-Bernard / Haas, Bernadette / Cambou, Jean-Pierre / Luc, Gérald / Ducimetière, Pierre et al. | 2000
- 63
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Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing lossLiu, Xue-Zhong / Xia, Xia Juan / Xu, Li Rong / Pandya, Arti / Liang, Chuan Yu / Blanton, Susan H. / Brown, Steve D.M. / Steel, Karen P. / Nance, Walter E. et al. | 2000
- 69
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Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretchYoshizawa, Toshihiro / Yamagishi, Yasuaki / Koseki, Naoteru / Goto, Jun / Yoshida, Hideaki / Shibasaki, Futoshi / Shoji, Shinichi / Kanazawa, Ichiro et al. | 2000
- 79
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The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner earPhippard, Deborah / Boyd, Yvonne / Reed, Vivienne / Fisher, Graham / Masson, Walter K. / Evans, Edward P. / Saunders, James C. / Crenshaw III, E. Bryan et al. | 2000
- 87
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Significant evidence for linkage of febrile seizures to chromosome 5q14-q15Nakayama, Junko / Hamano, Kenzo / Iwasaki, Nobuaki / Nakahara, Satoko / Horigome, Yumi / Saitoh, Hisako / Aoki, Takeshi / Maki, Takako / Kikuchi, Masahiro / Migita, Takuo et al. | 2000
- 93
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CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiaeBalakumaran, Bala S. / Freudenreich, Catherine H. / Zakian, Virginia A. et al. | 2000
- 101
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Profound obesity associated with a balanced translocation that disrupts the SIM1 geneHolder, J. Lloyd / Butte, Nancy F. / Zinn, Andrew R. et al. | 2000
- 109
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Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophyCao, Henian / Hegele, Robert A. et al. | 2000
- 113
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Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11Horvath, Juliann E. / Viggiano, Luigi / Loftus, Brendan J. / Adams, Mark D. / Archidiacono, Nicoletta / Rocchi, Mariano / Eichler, Evan E. et al. | 2000
- 125
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Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significanceTakeda, Kazuhisa / Takemoto, Clifford / Kobayashi, Ichiro / Watanabe, Atsushi / Nobukuni, Yoshitaka / Fisher, David E. / Tachibana, Masayoshi et al. | 2000
- 133
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Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tractSimeoni, Silvia / Mancini, Michael A. / Stenoien, David L. / Marcelli, Marco / Weigel, Nancy L. / Zanisi, Mariarosa / Martini, Luciano / Poletti, Angelo et al. | 2000
- 149
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Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNAKoch, Jørn et al. | 2000
- 155
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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 geneIkeda, Sakae / Shiva, Nima / Ikeda, Akihiro / Smith, Richard S. / Nusinowitz, Steven / Yan, Grace / Lin, T. Richard / Chu, Sunny / Heckenlively, John R. / North, Michael A. et al. | 2000
- 165
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Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genesFougerousse, Francoise / Bullen, Philip / Herasse, Muriel / Lindsay, Susan / Richard, Isabelle / Wilson, David / Suel, Laurence / Durand, Muriel / Robson, Steve / Abitbol, Marc et al. | 2000
- 175
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Human centromeres and neocentromeres show identical distribution patterns of >20 functionally important kinetochore-associated proteins.Saffery, Richard / Irvine, Danielle V. / Griffiths, Belinda / Kalitsis, Paul / Wordeman, Linda / Choo, K.H. Andy et al. | 2000
- 187
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Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphaseEarle, Elizabeth / Saxena, Alka / MacDonald, Andrew / Hudson, Damien F. / Shaffer, Lisa G. / Saffery, Richard / Cancilla, Michael R. / Cutts, Suzanne M. / Howman, Emily / Choo, K. H. Andy et al. | 2000
- 195
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Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouseBaxter, Laura L. / Moran, Timothy H. / Richtsmeier, Joan T. / Troncoso, Juan / Reeves, Roger H. et al. | 2000
- 203
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Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expressionPrawitt, Dirk / Enklaar, Thorsten / Klemm, Gabi / Gärtner, Barbara / Spangenberg, Christian / Winterpacht, Andreas / Higgins, Michael / Pelletier, Jerry / Zabel, Bernhard et al. | 2000
- 217
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Myoferlin, a candidate gene and potential modifier of muscular dystrophyDavis, Dawn Belt / Delmonte, Anthony J. / Ly, Chantal T. / McNally, Elizabeth M. et al. | 2000
- 227
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A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expressionFaiella, Antonio / Wernig, Marius / Consalez, G. Giacomo / Hostick, Ute / Hofmann, Clementine / Hustert, Elisabeth / Boncinelli, Edoardo / Balling, Rudi / Nadeau, Joseph H. et al. | 2000
- 237
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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1Ars, Elisabet / Serra, Eduard / García, Judit / Kruyer, Helena / Gaona, Antonia / Lázaro, Conxi / Estivill, Xavier et al. | 2000
- 249
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Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3G380R transgenic miceSegev, Orit / Chumakov, Irina / Nevo, Zvi / Givol, David / Madar-Shapiro, Liora / Sheinin, Yuri / Weinreb, Miron / Yayon, Avner et al. | 2000
- 259
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An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMNLorson, Christian L. / Androphy, Elliot J. et al. | 2000
- 267
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Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine lengthIrvine, Ryan A. / Ma, Han / Yu, Mimi C. / Ross, Ronald K. / Stallcup, Michael R. / Coetzee, Gerhard A. et al. | 2000
- 275
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxiaBradley, J.L. / Blake, J.C. / Chamberlain, S. / Thomas, P.K. / Cooper, J.M. / Schapira, A.H.V. et al. | 2000
- 283
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Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesisGuanti, Ginevra / Resta, Nicoletta / Simone, Cristiano / Cariola, Filomena / Demma, Ignazio / Fiorente, Paola / Gentile, Mattia et al. | 2000
- 289
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A novel human odorant-binding protein gene family resulting from genomic duplicons at 9q34: differential expression in the oral and genital spheresLacazette, Eric / Gachon, Anne-Marie / Pitiot, Gilles et al. | 2000
- 303
-
Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitorScheper, W. / Zwart, R. / van der Sluijs, P. / Annaert, W. / Gool, W.A. van / Baas, F. et al. | 2000
- 311
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A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteinsLahn, Bruce T. / Page, David C. et al. | 2000
- 321
-
Corrigendum| 2000
- 325
-
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expressionTheuns, Jessie / Del-Favero, Jurgen / Dermaut, Bart / Duijn, Cornelia M. van / Backhovens, Hubert / Broeck, Marleen Van den / Serneels, Sally / Corsmit, Ellen / Broeckhoven, Christine Van / Cruts, Marc et al. | 2000
- 333
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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyMonani, Umrao R. / Sendtner, Michael / Coovert, Daniel D. / Parsons, D. William / Andreassi, Catia / Le, Thanh T. / Jablonka, Sibylle / Schrank, Berthold / Rossol, Wilfred / Prior, Thomas W. et al. | 2000
- 341
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Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type IIIJablonka, Sibylle / Schrank, Bertold / Kralewski, Martina / Rossoll, Wilfried / Sendtner, Michael et al. | 2000
- 347
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Microsatellite instability in tumors as a model to study the process of microsatellite mutationsSturzeneker, Rosane / Bevilacqua, Roberta A.U. / Haddad, Luciana A. / Simpson, Andrew J.G. / Pena, Sérgio D.J. et al. | 2000
- 353
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Altered cholesterol metabolism in human apolipoprotein E4 knock-in miceHamanaka, Hiroki / Katoh-Fukui, Yuko / Suzuki, Kazuo / Kobayashi, Mariko / Suzuki, Rika / Motegi, Yoshiko / Nakahara, Yoko / Takeshita, Aya / Kawai, Mizue / Ishiguro, Koichi et al. | 2000
- 363
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Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomaliesAzuma, Noriyuki / Hirakiyama, Asami / Inoue, Tadashi / Asaka, Atsuko / Yamada, Masao et al. | 2000
- 367
-
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locusBejjani, Bassem A. / Stockton, David W. / Lewis, Richard Alan / Tomey, Karim F. / Dueker, David K. / Jabak, Monzer / Astle, William F. / Lupski, James R. et al. | 2000
- 367
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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a domimant modifier locusBejjani, B. A. / Stockton, D. W. / Lewis, R. A. / Tomey, K. F. / Dueker, D. K. / Jabak, M. / Astle, W. F. / Lupski, J. R. et al. | 2000
- 375
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The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomesOh, Jangsuk / Liu, Zhen-Xiang / Feng, Guo Hong / Raposo, Graça / Spritz, Richard A. et al. | 2000
- 387
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Huntingtin is required for normal hematopoiesisMetzler, Martina / Helgason, Cheryl D. / Dragatsis, Ioannis / Zhang, Taiqi / Gan, Lu / Pineault, Nicolas / Zeitlin, Scott O. / Humphries, R. Keith / Hayden, Michael R. et al. | 2000
- 395
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Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal regionCiccodicola, Alfredo / DEsposito, Maurizio / Esposito, Teresa / Gianfrancesco, Fernando / Migliaccio, Carmela / Miano, Maria Giuseppina / Matarazzo, Maria Rosaria / Vacca, Marcella / Franzè, Annamaria / Cuccurese, Monica et al. | 2000
- 403
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The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromesOuellette, Michel M. / McDaniel, Lisa D. / Wright, Woodring E. / Shay, Jerry W. / Schultz, Roger A. et al. | 2000
- 413
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Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndromeCarter, Mark G. / Johns, Margaret A. / Zeng, Xiaobei / Zhou, Li / Zink, M. Christine / Mankowski, Joseph L. / Donovan, David M. / Baylin, Stephen B. et al. | 2000
- 421
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A polymorphic L1 retroposon insertion in the centromere of the human Y chromosomeSantos, Fabrício R. / Pandya, Arpita / Kayser, Manfred / Mitchell, R. John / Liu, Aiping / Singh, Lalji / Destro-Bisol, Giovanni / Novelletto, Andrea / Qamar, Raheel / Mehdi, S. Qasim et al. | 2000
- 431
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Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)Mykkänen, Juha / Torrents, David / Pineda, Marta / Camps, Marta / Yoldi, Maria Eugenia / Horelli-Kuitunen, Nina / Huoponen, Kirsi / Heinonen, Minna / Oksanen, Jussi / Simell, Olli et al. | 2000
- 439
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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instabilityFortune, M. Teresa / Vassilopoulos, Christos / Coolbaugh, Mary I. / Siciliano, Michael J. / Monckton, Darren G. et al. | 2000
- 447
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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney diseaseKoptides, Michael / Mean, Richard / Demetriou, Kyproula / Pierides, Alkis / Deltas, C. Constantinou et al. | 2000
- 453
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The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetesKamiya, Mamoru / Judson, Hannah / Okazaki, Yasushi / Kusakabe, Moriaki / Muramatsu, Masami / Takada, Shuji / Takagi, Nobuo / Arima, Takahiro / Wake, Norio / Kamimura, Katsunori et al. | 2000
- 453
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The cell cycle gene ZAC/PLAGL1 is imprinted-a strong candidate gene for transient neonatal diabetesKamiya, M. / Judson, H. / Okazaki, Y. / Kusakabe, M. / Muramatsu, M. / Takada, S. / Takagi, N. / Arima, T. / Wake, N. / Kamimura, K. et al. | 2000
- 463
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The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don'tJacobs, Howard T. / Holt, Ian J. et al. | 2000
- 467
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Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patientsBörner, G. Valentin / Zeviani, Massimo / Tiranti, Valeria / Carrara, Franco / Hoffmann, Sabine / Gerbitz, Klaus Dieter / Lochmüller, Hanns / Pongratz, Dieter / Klopstock, Thomas / Melberg, Atle et al. | 2000
- 477
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Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoAPrakash, Siddharth K. / Paylor, Richard / Jenna, Sarah / Lamarche-Vane, Nathalie / Armstrong, Dawna L. / Xu, Bisong / Mancini, Michael A. / Zoghbi, Huda Y. et al. | 2000
- 489
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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysisShaikh, Tamim H. / Kurahashi, Hiroki / Saitta, Sulagna C. / OHare, Anna Mizrahy / Hu, Ping / Roe, Bruce A. / Driscoll, Deborah A. / McDonald-McGinn, Donna M. / Zackai, Elaine H. / Budarf, Marcia L. et al. | 2000
- 503
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Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in miceWheeler, Vanessa C. / White, Jacqueline K. / Gutekunst, Claire-Anne / Vrbanac, Vladimir / Weaver, Meredith / Li, Xiao-Jiang / Li, Shi-Hua / Yi, Hong / Vonsattel, Jean-Paul / Gusella, James F. et al. | 2000
- 515
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Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21Brown, Amanda Savage / Feingold, Eleanor / Broman, Karl W. / Sherman, Stephanie L. et al. | 2000
- 525
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A functional analysis of a natural variant of intercellular adhesion molecule-1 (ICAM-1Kilifi)Craig, Alister / Fernandez-Reyes, Delmiro / Mesri, Mehdi / McDowall, Alison / Altieri, Dario C. / Hogg, Nancy / Newbold, Christopher et al. | 2000
- 531
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Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)Zeiss, Caroline J. / Ray, Kunal / Acland, Gregory M. / Aguirre, Gustavo D. et al. | 2000
- 539
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Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin associationBérubé, Nathalie G. / Smeenk, Cecilia A. / Picketts, David J. et al. | 2000
- 549
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Genetic variants of IL-13 signalling and human asthma and atopyHeinzmann, A. / Mao, X.-Q. / Akaiwa, M. / Kreomer, R.T. / Gao, P.-S. / Ohshima, K. / Umeshita, R. / Abe, Y. / Braun, S. / Yamashita, T. et al. | 2000
- 561
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Developmentally distinct effects on human {varepsilon}-, {gamma}- and {delta}-globin levels caused by the absence or altered position of the human {beta}-globin gene in YAC transgenic miceBauchwitz, Robert / Costantini, Frank et al. | 2000
- 561
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Developmentally distinct effects on human epsilon-, gamma- and delta-globin levels caused by the absence or altered position of the human beta-globin gene in YAC transgenic miceBauchwitz, R. / Costantini, F. et al. | 2000
- 575
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A genetic risk factor for mouse neural tube defects: defining the embryonic basisFleming, Angeleen / Copp, Andrew J. et al. | 2000
- 583
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A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10pMoshous, Despina / Li, Lanying / Chasseval, Régina de / Philippe, Noel / Jabado, Nada / Cowan, Morton J. / Fischer, Alain / Villartay, Jean-Pierre de et al. | 2000
- 583
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A new gene involved in DNA double-strand break repair and V(D)J recombinations is located on human chromosome 10pMoshous, D. / Li, L. / de Chasseval, R. / Philippe, N. / Jabado, N. / Cowan, M. J. / Fischer, A. / de Villartay, J.-P. et al. | 2000
- 589
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An imprinted locus associated with transient neonatal diabetes mellitusGardner, Rebecca J. / Mackay, Deborah J.G. / Mungall, Andrew J. / Polychronakos, Constantin / Siebert, Reiner / Shield, Julian P.H. / Temple, I. Karen / Robinson, David O. et al. | 2000
- 597
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Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2Kondo, Tadashi / Bobek, Miroslav P. / Kuick, Rork / Lamb, Barbara / Zhu, Xiaoxiang / Narayan, Ajita / Bourchis, Déborah / Viegas-Péquignot, Evani / Ehrlich, Melanie / Hanash, Samir M. et al. | 2000
- 605
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Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct propertiesGroenen, Patricia J.T.A. / Wansink, Derick G. / Coerwinkel, Marga / van den Broek, Walther / Jansen, Gert / Wieringa, Bé et al. | 2000
- 617
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Expression of the human CFTR gene from episomal oriP-EBNA1-YACs in mouse cellsHuertas, Dori / Howe, Steve / McGuigan, Amanda / Huxley, Clare et al. | 2000
- 631
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{beta}-globin YAC transgenes exhibit uniform expression levels but position effect variegation in miceAlami, Raouf / Greally, John M. / Tanimoto, Keiji / Hwang, Steven / Feng, Yong-Qing / Engel, James D. / Fiering, Steven / Bouhassira, Eric E. et al. | 2000
- 637
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaFonknechten, Nùria / Mavel, Delphine / Byrne, Paula / Davoine, Claire-Sophie / Cruaud, Corinne / Boentsch, Dominikus / Samson, Delphine / Coutinho, Paula / Hutchinson, Michael / Monagle, Paul Mc et al. | 2000
- 645
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Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS ratDCruz, Patricia M. / Yasumura, Douglas / Weir, Jessica / Matthes, Michael T. / Abderrahim, Hadi / LaVail, Matthew M. / Vollrath, Douglas et al. | 2000
- 653
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Transduction of 3'-flanking sequences is common in L1 retrotranspositionGoodier, John L. / Ostertag, Eric M. / Kazazian, Haig H. et al. | 2000
- 663
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The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1Hannus, Stefan / Bühler, Dirk / Romano, Marta / Seraphin, Bertrand / Fischer, Utz et al. | 2000
- 675
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Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) proteinOwen, Nicholas / Doe, Claudette L. / Mellor, Jane / Davies, Kay E. et al. | 2000
- 685
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RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2{beta} and affect splicingVenables, J.P. / Elliott, D.J. / Makarova, O.V. / Makarov, E.M. / Cooke, H.J. / Eperon, I.C. et al. | 2000
- 695
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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndromeClement-Jones, Mark / Schiller, Simone / Rao, Ercole / Blaschke, Rüdiger J. / Zuniga, Aimee / Zeller, Rolf / Robson, Stephen C. / Binder, Gerhard / Glass, Ian / Strachan, Tom et al. | 2000
- 703
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Doublecortin mutations cluster in evolutionarily conserved functional domainsSapir, Tamar / Horesh, David / Caspi, Michal / Atlas, Roee / Burgess, Harold A. / Wolf, Sharon Grayer / Francis, Fiona / Chelly, Jamel / Elbaum, Michael / Pietrokovski, Shmuel et al. | 2000
- 713
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Allele diversity and germline mutation at the insulin minisatelliteStead, John D.H. / Jeffreys, Alec J. et al. | 2000
- 725
-
High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspotJeffreys, Alec J. / Ritchie, Alistair / Neumann, Rita et al. | 2000
- 735
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Batten disease: evaluation of CLN3 mutations on protein localization and functionHaskell, Ronald E. / Carr, Carrie J. / Pearce, David A. / Bennett, Michael J. / Davidson, Beverly L. et al. | 2000
- 745
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Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanismsLux, Andreas / Gallione, Carol J. / Marchuk, Douglas A. et al. | 2000
- 757
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Retention of imprinting of the human apoptosis-related gene TSSC3 in human brain tumorsMüller, Sabine / van den Boom, Dirk / Zirkel, Dorothea / Köster, Hubert / Berthold, Frank / Schwab, Manfred / Westphal, Manfred / Zumkeller, Walter et al. | 2000
- 765
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Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisZhou, Xiao-Ping / Marsh, Debbie J. / Hampel, Heather / Mulliken, John B. / Gimm, Oliver / Eng, Charis et al. | 2000
- 769
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Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulatedGuay-Woodford, Lisa M. / Green, William J. / Lindsey, J. Russell / Beier, David R. et al. | 2000
- 779
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Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locusLorenzetti, Diego / Watase, Kei / Xu, Bisong / Matzuk, Martin M. / Orr, Harry T. / Zoghbi, Huda Y. et al. | 2000
- 787
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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31Coffeen, Christin M. / McKenna, Catherine E. / Koeppen, Arnulf H. / Plaster, Nikki M. / Maragakis, Nicholas / Mihalopoulos, Jason / Schwankhaus, John D. / Flanigan, Kevin M. / Gregg, Ronald G. / Ptácek, Louis J. et al. | 2000
- 795
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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyJaksch, Michaela / Ogilvie, Isla / Yao, Jianbo / Kortenhaus, Gisela / Bresser, Hans-Georg / Gerbitz, Klaus-Dieter / Shoubridge, Eric A. et al. | 2000
- 803
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Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2Azzouz, Mimoun / Hottinger, Andreas / Paterna, Jean-Charles / Zurn, Anne D. / Aebischer, Patrick / Büeler, Hansruedi et al. | 2000
- 813
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear locationEl Ghouzzi, Vincent / Legeai-Mallet, Laurence / Aresta, Sandra / Benoist, Catherine / Munnich, Arnold / Gunzburg, Jean de / Bonaventure, Jacky et al. | 2000
- 821
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The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5aJones, Julie M. / Huang, Jian-Dong / Mermall, Valerie / Hamilton, Bruce A. / Mooseker, Mark S. / Escayg, Andrew / Copeland, Neal G. / Jenkins, Nancy A. / Meisler, Miriam H. et al. | 2000
- 829
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Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY malesLim, H.N. / Chen, H. / McBride, S. / Dunning, A.M. / Nixon, R.M. / Hughes, I.A. / Hawkins, J.R. et al. | 2000
- 835
-
An imprinted antisense transcript at the human GNAS1 locusHayward, Bruce E. / Bonthron, David T. et al. | 2000
- 843
-
Family-based association mapping provides evidence for a gene for reading disability on chromosome 15qMorris, Derek W. / Robinson, Lucie / Turic, Darko / Duke, Mary / Webb, Victoria / Milham, Charis / Hopkin, Elizabeth / Pound, Kirsty / Fernando, Shamira / Easton, Martha et al. | 2000
- 849
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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophyFrugier, Tony / Tiziano, Francesco D. / Cifuentes-Diaz, Carmen / Miniou, Pierre / Roblot, Natacha / Dierich, Andrée / Le Meur, Marianne / Melki, Judith et al. | 2000
- 861
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Autism: recent molecular genetic advancesLamb, Janine A. / Moore, Janette / Bailey, Anthony / Monaco, Anthony P. et al. | 2000
- 869
-
A role for Caenorhabditis elegans in understanding the function and interactions of human disease genesCuletto, Emmanuel / Sattelle, David B. et al. | 2000
- 879
-
Neural cell recognition molecule L1: relating biological complexity to human disease mutationsKenwrick, Sue / Watkins, Alex / Angelis, Elena De et al. | 2000
- 887
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Recent advances in the molecular pathogenesis of Friedreich ataxiaPuccio, Hélène et al. | 2000
- 893
-
Towards new models of disease and physiology in the neurosciences: the role of induced and naturally occurring mutationsHunter, A. Jackie / Nolan, Patrick M. / Brown, Steve D.M. et al. | 2000
- 901
-
Understanding the molecular basis of fragile X syndromeJin, Peng / Warren, Stephen T. et al. | 2000
- 909
-
Fourteen and counting: unraveling trinucleotide repeat diseasesCummings, Christopher J. / Zoghbi, Huda Y. et al. | 2000
- 917
-
Vertebrate eye development as modeled in DrosophilaWawersik, Stefan / Maas, Richard L. et al. | 2000
- 927
-
Recent progress in psychiatric genetics--some hope but no hypeStoltenberg, Scott F. / Burmeister, Margit et al. | 2000
- 937
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Analysis of mammalian central nervous system gene expression and function using bacterial artificial chromosome-mediated transgenesisHeintz, Nathaniel et al. | 2000
- 945
-
Zebrafish developmental genetics and central nervous system developmentBlader, P. / Strähle, U. et al. | 2000
- 953
-
Dissection of behavior and psychiatric disorders using the mouse as a modelTarantino, Lisa / Bucan, Maja et al. | 2000
- 967
-
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysisDurand, Patrick / Fabrega, Sylvie / Henrissat, Bernard / Mornon, Jean-Paul / Lehn, Pierre et al. | 2000
- 979
-
Untangling tau-related dementiaHeutink, P. et al. | 2000
- 987
-
The proteolipid protein gene and myelin disorders in man and animal modelsYool, Donald A. / Edgar, Julia M. / Montague, Paul / Malcolm, Sue et al. | 2000
- 993
-
Mouse models for neural tube closure defectsJuriloff, Diana M. / Harris, Muriel J. et al. | 2000
- 1001
-
Large and diverse numbers of human diseases with HIKE mutationsCiccarelli, Francesca D. / Acciarito, Angela / Alberti, Saverio et al. | 2000
- 1011
-
Single nucleotide polymorphism and linkage disequilibrium within the TCR {alpha}/{delta} locusMoffatt, M. F. / Traherne, J. A. / Abecasis, G. R. / Cookson, W. O. C. M. et al. | 2000
- 1021
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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular developmentSmith, Richard S. / Zabaleta, Adriana / Kume, Tsutomu / Savinova, Olga V. / Kidson, Susan H. / Martin, Janice E. / Nishimura, Darryl Y. / Alward, Wallace L. M. / Hogan, Brigid L. M. / John, Simon W. M. et al. | 2000
- 1033
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Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathyYoshida, Mikiharu / Hama, Hiroshi / Ishikawa-Sakurai, Michiko / Imamura, Michihiro / Mizuno, Yuji / Araishi, Kenji / Wakabayashi-Takai, Eriko / Noguchi, Satoru / Sasaoka, Toshikuni / Ozawa, Eijiro et al. | 2000
- 1041
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Sequential deletion of C-terminal amino acids of the E1{alpha} component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E1{alpha}2{beta}2 tetramers: implications for patients with PDH deficiencySeyda, Agnieszka / McEachern, Gillian / Haas, Richard / Robinson, Brian H. et al. | 2000
- 1049
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Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22Ekelund, Jesper / Lichtermann, Dirk / Hovatta, Iiris / Ellonen, Pekka / Suvisaari, Jaana / Terwilliger, Joseph D. / Juvonen, Hannu / Varilo, Teppo / Arajärvi, Ritva / Kokko-Sahin, Marja-Liisa et al. | 2000
- 1059
-
Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1Rutkowski, J. Lynn / Wu, Kunsheng / Gutmann, David H. / Boyer, Philip J. / Legius, Eric et al. | 2000
- 1067
-
LMXIB transactivation and expression in nail-patella syndromeDreyer, S. D. / Morello, R. / German, M. S. / Zabel, B. / Winterpacht, A. / Lunstrum, G. P. / Horton, W. A. / Oberg, K. C. / Lee, B. et al. | 2000
- 1067
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LMX1B transactivation and expression in nail-patella syndromeDreyer, Sandra D. / Morello, Roy / German, Michael S. / Zabel, Bernhard / Winterpacht, Andreas / Lunstrum, Gregory P. / Horton, William A. / Oberg, Kerby C. / Lee, Brendan et al. | 2000
- 1075
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Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complexLukong, Kiven E. / Elsliger, Marc-André / Chang, Yuan / Richard, Catherine / Thomas, George / Carey, William / Tylki-Szymanska, Anna / Czartoryska, Barbara / Buchholz, Tina / Criado, German Rodríguez et al. | 2000
- 1087
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Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouseLiu, Yujing / Wu, Yun-Ping / Wada, Ryuichi / Neufeld, Edward B. / Mullin, Katherine A. / Howard, April C. / Pentchev, Peter G. / Vanier, Marie T. / Suzuki, Kinuko / Proia, Richard L. et al. | 2000
- 1093
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Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?Campbell, Louise / Hunter, Kara M. D. / Mohaghegh, Payam / Tinsley, Jonathon M. / Brasch, Michael A. / Davies, Kay E. et al. | 2000
- 1101
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Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryosSmelt, V. A. / Upton, A. / Adjaye, J. / Payton, M. A. / Boukouvala, S. / Johnson, N. / Mardon, H. J. / Sim, E. et al. | 2000
- 1109
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Genome-wide scan for adult onset primary open angle glaucomaWiggs, J. L. / Allingham, R. R. / Hossain, A. / Kern, J. / Auguste, J. / DelBono, E. A. / Broomer, B. / Graham, F. Lennon / Hauser, M. / Pericak-Vance, M. et al. | 2000
- 1119
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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and locationCheadle, Jeremy P. / Gill, Harinder / Fleming, Nick / Maynard, Julie / Kerr, Alison / Leonard, Helen / Krawczak, Michael / Cooper, David N. / Lynch, Sally / Thomas, Nick et al. | 2000
- 1131
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Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pumpSudbrak, Ralf / Brown, Joanna / Dobson-Stone, Carol / Carter, Simon / Ramser, Juliane / White, Jacqueline / Healy, Eugene / Dissanayake, Manel / Larrègue, Marc / Perrussel, Marc et al. | 2000
- 1131
-
Hailey-Hailey disease is caused by mutations in ATP2CI encoding a novel Ca^2^+ pumpSudbrak, R. / Brown, J. / Dobson-Stone, C. / Carter, S. / Ramser, J. / White, J. / Healy, E. / Dissanayake, M. / Larregue, M. / Perrussel, M. et al. | 2000
- 1145
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(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical featuresPeier, Andrea M. / McIlwain, Kellie L. / Kenneson, Aileen / Warren, Stephen T. / Paylor, Richard / Nelson, David L. et al. | 2000
- 1161
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Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertilityForesta, Carlo / Ferlin, Alberto / Moro, Enrico et al. | 2000
- 1171
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Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosumColella, Stefano / Nardo, Tiziana / Botta, Elena / Lehmann, Alan R. / Stefanini, Miria et al. | 2000
- 1177
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Did nucleotides or amino acids drive evolutionary conservation of the WT1 {+/-}KTS alternative splice?Davies, Rachel C. / Bratt, Eva / Hastie, Nicholas D. et al. | 2000
- 1177
-
Did nucleotides or amino acids drive evolutionary conservation of the WT1 [PLUSMINUS]KTS alternative splice?Davies, R. C. / Bratt, E. / Hastie, N. D. et al. | 2000
- 1185
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Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instabilitySeznec, Hervé / Lia-Baldini, Anne-Sophie / Duros, Chantal / Fouquet, Coralie / Lacroix, Céline / Hofmann-Radvanyi, Hélène / Junien, Claudine / Gourdon, Geneviève et al. | 2000
- 1195
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Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's diseaseJansen, Gerbert A. / Hogenhout, Eveline M. / Ferdinandusse, Sacha / Waterham, Hans R. / Ofman, Rob / Jakobs, Cornelis / Skjeldal, Ola H. / Wanders, Ronald J.A. et al. | 2000
- 1201
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Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakageJones, Christopher / Müllenbach, Roman / Grossfeld, Paul / Auer, Rebecca / Favier, Remi / Chien, Ken / James, Michael / Tunnacliffe, Alan / Cotter, Finbarr et al. | 2000
- 1209
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Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein traffickingDixon, P.H. / Weerasekera, N. / Linton, K.J. / Donaldson, O. / Chambers, J. / Egginton, E. / Weaver, J. / Nelson-Piercy, C. / Swiet, M. de / Warnes, G. et al. | 2000
- 1219
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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulationCossée, Mireille / Puccio, Hélène / Gansmuller, Anne / Koutnikova, Hana / Dierich, Andrée / LeMeur, Marianne / Fischbeck, Kenneth / Dollé, Pascal / Koenig, Michel et al. | 2000
- 1227
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Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2Abdalla, Salma A. / Pece-Barbara, Nadia / Vera, Sonia / Tapia, Esther / Paez, Eduardo / Bernabeu, Carmelo / Letarte, Michelle et al. | 2000
- 1239
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Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombinationBadge, Richard M. / Yardley, Jane / Jeffreys, Alec J. / Armour, John A. L. et al. | 2000
- 1245
-
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyValnot, Isabelle / von Kleist-Retzow, Jürgen-Christoph / Barrientos, Antoni / Gorbatyuk, Marina / Taanman, Jan-Willem / Mehaye, Blandine / Rustin, Pierre / Tzagoloff, Alexander / Munnich, Arnold / Rötig, Agnès et al. | 2000
- 1251
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Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagnaWuyts, Wim / Reardon, William / Preis, Sabine / Homfray, Tessa / Rasore-Quartino, Alberto / Christians, Hans / Willems, Patrick J. / Van Hul, Wim et al. | 2000
- 1259
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Decreased expression of striatal signaling genes in a mouse model of Huntington's diseaseLuthi-Carter, Ruth / Strand, Andrew / Peters, Nikki L. / Solano, Steven M. / Hollingsworth, Zane R. / Menon, Anil S. / Frey, Ariel S. / Spektor, Boris S. / Penney, Ellen B. / Schilling, Gabriele et al. | 2000
- 1273
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A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterasesShapira, Michael / Tur-Kaspa, Ilan / Bosgraaf, Leonard / Livni, Nadav / Grant, Alastair D. / Grisaru, Dan / Korner, Mira / Ebstein, Richard P. / Soreq, Hermona et al. | 2000
- 1283
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Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypesSukegawa, Kazuko / Nakamura, Haruki / Kato, Zenichiro / Tomatsu, Shunji / Montaño, Adriana M. / Fukao, Toshiyuki / Toietta, Gabriele / Tortora, Paolo / Orii, Tadao / Kondo, Naomi et al. | 2000
- 1291
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Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21Herr, Mathias / Dudbridge, Frank / Zavattari, Patrizia / Cucca, Francesco / Guja, Cristian / March, Ruth / Campbell, R. Duncan / Barnett, Anthony H. / Bain, Stephen C. / Todd, John A. et al. | 2000
- 1291
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Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDMI in the HLA region on chromosome 6p21Herr, M. / Dudbridge, F. / Zavattari, P. / Cucca, F. / Guja, C. / March, R. / Campbell, R. D. / Barnett, A. H. / Bain, S. C. / Todd, J. A. et al. | 2000
- 1303
-
A novel protein with RNA-binding motifs interacts with ataxin-2Shibata, Hiroki / Huynh, Duong P. / Pulst, Stefan-M. et al. | 2000
- 1315
-
Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham StudyShearman, Amanda M. / Ordovas, Jose M. / Cupples, L. Adrienne / Schaefer, Ernst J. / Harmon, Michael D. / Shao, Yujun / Keen, J. Dianne / DeStefano, Anita L. / Joost, Oscar / Wilson, Peter W. F. et al. | 2000
- 1321
-
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 geneVeugelers, Mark / Cat, Bart De / Muyldermans, Sin Ya / Reekmans, Gunter / Delande, Nathalie / Frints, Suzanne / Legius, Eric / Fryns, Jean-Pierre / Schrander-Stumpel, Connie / Weidle, Bernhard et al. | 2000
- 1329
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A full genome scan for age-related maculopathyWeeks, Daniel E. / Conley, Yvette P. / Mah, Tammy S. / Paul, T. Otis / Morse, Lawrence / Ngo-Chang, Julilani / Dailey, J.P. / Ferrell, Robert E. / Gorin, Michael B. et al. | 2000
- 1351
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KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformationEerola, Iiro / Plate, Karl H. / Spiegel, Roland / Boon, Laurence M. / Mulliken, John B. / Vikkula, Miikka et al. | 2000
- 1357
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Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structureRafael, Jill A. / Townsend, Elizabeth R. / Squire, Sarah E. / Potter, Allyson C. / Chamberlain, Jeffrey S. / Davies, Kay E. et al. | 2000
- 1369
-
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patientsHuppke, P. / Laccone, F. / Krämer, N. / Engel, W. / Hanefeld, F. et al. | 2000
- 1377
-
MECP2 mutations account for most cases of typical forms of Rett syndromeBienvenu, Thierry / Carrié, Alain / de Roux, Nicolas / Vinet, Marie-Claude / Jonveaux, Philippe / Couvert, Philippe / Villard, Laurent / Arzimanoglou, Alexis / Beldjord, Cherif / Fontes, Michel et al. | 2000
- 1385
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Spectrum of {Delta}7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndromeYu, Hongwei / Lee, Mi-Hye / Starck, Lena / Elias, Ellen R. / Irons, Mira / Salen, Gerald / Patel, Shailendra B. / Tint, G. Stephen et al. | 2000
- 1393
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Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2ATagawa, Kazuhiko / Taya, Choji / Hayashi, Yukiko / Nakagawa, Masahiro / Ono, Yasuko / Fukuda, Rie / Karasuyama, Hajime / Toyama-Sorimachi, Noriko / Katsui, Yukiko / Hata, Shoji et al. | 2000
- 1403
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Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cellsHewett, Jeffrey / Gonzalez-Agosti, Charo / Slater, Damien / Ziefer, Philipp / Li, Sang / Bergeron, Daniele / Jacoby, David J. / Ozelius, Laurie J. / Ramesh, Vijaya / Breakefield, Xandra O. et al. | 2000
- 1415
-
Disruption of two novel genes by a translocation segregating with schizophreniaMillar, J. K. / Wilson-Annan, J. C. / Anderson, S. / Christie, S. / Taylor, M. S. / Semple, C. A. / Devon, R. S. / Clair, D. M. / Muir, W. J. / Blackwood, D. H. et al. | 2000
- 1415
-
Disruption of two novel genes by a translocation co-segregating with schizophreniaMillar, J. Kirsty / Wilson-Annan, Julie C. / Anderson, Susan / Christie, Sheila / Taylor, Martin S. / Semple, Colin A. M. / Devon, Rebecca S. / Clair, David M. St / Muir, Walter J. / Blackwood, Douglas H. R. et al. | 2000
- 1425
-
Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel diseaseCho, Judy H. / Nicolae, Dan L. / Ramos, Richard / Fields, Carter T. / Rabenau, Karen / Corradino, Sarah / Brant, Steven R. / Espinosa, Rafael / LeBeau, Michelle / Hanauer, Stephen B. et al. | 2000
- 1433
-
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamineYanagisawa, Hiroko / Bundo, Miki / Miyashita, Toshiyuki / Okamura-Oho, Yuko / Tadokoro, Keiko / Tokunaga, Katsushi / Yamada, Masao et al. | 2000
- 1443
-
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNSBulfone, Alessandro / Menguzzato, Emilio / Broccoli, Vania / Marchitiello, Anna / Gattuso, Claudio / Mariani, Margherita / Consalez, Gian Giacomo / Martinez, Salvador / Ballabio, Andrea / Banfi, Sandro et al. | 2000
- 1443
-
Barhll, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNSBulfone, A. / Menguzzato, E. / Broccoli, V. / Marchitiello, A. / Gattuso, C. / Mariani, M. / Consalez, G. G. / Martinez, S. / Ballabio, A. / Banfi, S. et al. | 2000
- 1453
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction distrubances (LGMD1B)Muchir, A. / Bonne, G. / van der Kooi, A. J. / van Meegen, M. / Baas, F. / Bolhuis, F. A. / de Visser, M. / Schwartz, K. et al. | 2000
- 1453
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)Muchir, Antoine / Bonne, Gisèle / van der Kooi, Anneke J. / van Meegen, Mia / Baas, Frank / Bolhuis, Pieter A. / de Visser, Marianne / Schwartz, Ketty et al. | 2000
- 1465
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Genome search for susceptibility loci of common idiopathic generalised epilepsiesSander, T. / Schulz, H. / Saar, K. / Gennaro, E. / Riggio, M. C. / Bianchi, A. / Zara, F. / Luna, D. / Bulteau, C. / Kaminska, A. et al. | 2000
- 1473
-
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndromeDixon, J. / Brakebusch, C. / Fassler, R. / Dixon, M. J. et al. | 2000
- 1481
-
Restricted polymorphism of the mannose-binding lectin gene of indigenous AustraliansTurner, M. W. / Dinan, L. / Heatley, S. / Jack, D. L. / Boettcher, B. / Lester, S. / McCluskey, J. / Roberton, D. et al. | 2000
- 1487
-
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteinsTamanini, F. / Kirkpatrick, L. L. / Schonkeren, J. / van Unen, L. / Bontekoe, C. / Bakker, C. / Nelson, D. L. / Galjaard, H. / Oostra, B. A. / Hoogeveen, A. T. et al. | 2000
- 1495
-
Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomasGutmann, D. H. / Donahoe, J. / Perry, A. / Lemke, N. / Gorse, K. / Kittiniyom, K. / Rempel, S. A. / Gutierrez, J. A. / Newsham, I. F. et al. | 2000
- 1501
-
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patientsKmoch, S. / Hartmannova, H. / Stiburkova, B. / Krijt, J. / Zikanova, M. / Sebesta, I. et al. | 2000
- 1515
-
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigreeBrown, R. L. / Pollock, A. N. / Couchman, K. G. / Hodges, M. / Hutchinson, D. O. / Waaka, R. / Lynch, P. / McCarthy, T. V. / Stowell, K. V. et al. | 2000
- 1525
-
The most frequent constitutional translocation in humans, the t(11; 22)(q23; q11) is due to a highly specific Alu-mediated recombinationHill, A. S. / Foot, N. J. / Chaplin, T. L. / Young, B. D. et al. | 2000
- 1533
-
A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility alleleAsumalahti, K. / Laitinen, T. / Itkonen-Vatjus, R. / Lokki, M.-L. / Suomela, S. / Snellman, E. / Saarialho-Kere, U. / Kere, J. et al. | 2000
- 1543
-
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)Nemes, J. P. / Benzow, K. A. / Koob, M. D. et al. | 2000
- 1553
-
Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to overt differentiation suggests a role in mammalian sexual developmentGrimmond, S. / Van Hateren, N. / Siggers, P. / Arkell, R. / Larder, R. / Soares, M. B. / de Fatima Bonaldo, M. / Smith, L. / Tymowska-Lalanne, Z. / Wells, C. et al. | 2000
- 1563
-
Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitisBrown, M. A. / Edwards, S. / Hoyle, E. / Campbell, S. / Laval, S. / Daly, A. K. / Pile, K. D. / Calin, A. / Ebringer, A. / Weeks, D. E. et al. | 2000
- 1567
-
The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrateScoles, D. R. / Huynh, D. P. / Chen, M. S. / Burke, S. P. / Gutmann, D. H. / Pulst, S.-M. et al. | 2000
- 1575
-
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia miceSemina, E. V. / Murray, J. C. / Reiter, R. / Hrstka, R. F. / Graw, J. et al. | 2000
- 1587
-
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashionBlagitko, N. / Mergenthaler, S. / Schulz, U. / Wollmann, H. A. / Craigen, W. / Eggermann, T. / Ropers, H.-H. / Kalscheuer, V. M. et al. | 2000
- 1597
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Therapeutic liver repopulation in a mouse model of hypercholesterolemiaMitchell, C. / Mignon, A. / Guidotti, J. E. / Besnard, S. / Fabre, M. / Duverger, N. / Parlier, D. / Tedgui, A. / Kahn, A. / Gilgenkrantz, H. et al. | 2000
- 1603
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A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryosIwata, T. / Chen, L. / Li, C.-I. / Ovchinnikov, D. A. / Behringer, R. R. / Francomano, C. A. / Deng, C.-X. et al. | 2000
- 1615
-
A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defectsKlootwijk, R. / Franke, B. / van der Zee, C. E. E. M. / de Boer, R. T. / Wilms, W. / Hol, F. A. / Mariman, E. C. M. et al. | 2000
- 1623
-
Mammalian artifical chromosome formation from circular alphoid input DNA does not require telomere repeatsEbersole, T. A. / Ross, A. / Clark, E. / McGill, N. / Schindelhauer, D. / Cooke, H. / Grimes, B. et al. | 2000
- 1633
-
Expression of the PTEN tumour suppressor protein during human developmentGimm, O. / Attie-Bitach, T. / Lees, J. A. / Vekemans, M. / Eng, C. et al. | 2000
- 1641
-
Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1Ibraghimov-Beskrovnaya, O. / Bukanov, N. O. / Donohue, L. C. / Dackowski, W. R. / Klinger, K. W. / Landes, G. M. et al. | 2000
- 1651
-
Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cellsRied, K. / Finnis, M. / Hobson, L. / Mangelsdorf, M. / Dayan, S. / Nancarrow, J. K. / Woollatt, E. / Kremmidiotis, G. / Gardner, A. / Venter, D. et al. | 2000
- 1665
-
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11; 22)Kurahashi, H. / Shaikh, T. H. / Hu, P. / Roe, B. A. / Emanuel, B. S. / Budarf, M. L. et al. | 2000
- 1671
-
DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesisStrissel, P. L. / Strick, R. / Tomek, R. J. / Roe, B. A. / Rowley, J. D. / Zeleznik-Le, N. J. et al. | 2000
- 1681
-
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathwaysFuentes, J. J. / Genesca, L. / Kingsbury, T. J. / Cunningham, K. W. / Perez-Riba, M. / Estivill, X. / de la Luna, S. et al. | 2000
- 1691
-
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulumLonka, L. / Kyttala, A. / Ranta, S. / Jalanko, A. / Lehesjoki, A.-E. et al. | 2000
- 1699
-
Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)Tohyama, J. / Vanier, M. T. / Suzuki, K. / Ezoe, T. / Matsuda, J. et al. | 2000
- 1709
-
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)Scott, D. A. / Wang, R. / Kreman, T. M. / Andrews, M. / McDonald, J. M. / Bishop, J. R. / Smith, R. J. H. / Karniski, L. P. / Sheffield, V. C. et al. | 2000
- 1721
-
The TSC1 gene product, hamartin, negatively regulates cell proliferationMiloloza, A. / Rosner, M. / Nellist, M. / Halley, D. / Bernaschek, G. / Hengstschlager, M. et al. | 2000
- 1729
-
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cellsAnderson, D. W. / Probst, F. J. / Belyantseva, I. A. / Fridell, R. A. / Beyer, L. / Martin, D. M. / Wu, D. / Kachar, B. / Friedman, T. B. / Raphael, Y. et al. | 2000
- 1739
-
Expression pattern of the Nijmegan breakage syndrome gene, Nbs1, during murine developmentWilda, M. / Demuth, I. / Concannon, P. / Sperling, K. / Hameister, H. et al. | 2000
- 1745
-
A Cre-lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cellsCall, L. M. / Moore, C. S. / Stetten, G. / Gearhart, J. D. et al. | 2000
- 1753
-
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)Hayes, S. / Turecki, G. / Brisebois, K. / Lopes-Cendes, I. / Gaspar, C. / Riess, O. / Ranum, L. P. W. / Pulst, S.-M. / Rouleau, G. A. et al. | 2000
- 1759
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Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instabilityCrawford, D. C. / Zhang, F. / Wilson, B. / Warren, S. T. / Sherman, S. L. et al. | 2000
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Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutationsNissim-Rafinia, M. / Chiba-Falek, O. / Sharon, G. / Boss, A. / Kerem, B. et al. | 2000
- 1779
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Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallographyKmoch, S. / Brynda, J. / Asfaw, B. / Bezouska, K. / Novak, P. / Rezacova, P. / Ondrova, L. / Filipec, M. / Sedlacek, J. / Elleder, M. et al. | 2000
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A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicityGuan, M.-X. / Fischel-Ghodsian, N. / Attardi, G. et al. | 2000
- 1795
-
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23BWang, G.-h. / Sawai, N. / Kotliarova, S. / Kanazawa, I. / Nukina, N. et al. | 2000
- 1805
-
Mice with a targeted disruption of the Fanconi anemia homolog FancaCheng, N. C. / van de Vrugt, H. J. / van der Valk, M. A. / Oostra, A. B. / Krimpenfort, P. / de Vries, Y. / Joenje, H. / Berns, A. / Arwert, F. et al. | 2000
- 1813
-
Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotypeLee, S. / Kozlov, S. / Hernandez, L. / Chamberlain, S. J. / Brannan, C. I. / Stewart, C. L. / Wevrick, R. et al. | 2000
- 1821
-
A mouse model of galactose-induced cataractsAi, Y. / Zheng, Z. / O'Brien-Jenkins, A. / Bernard, D. J. / Wynshaw-Boris, T. / Ning, C. / Reynolds, R. / Segal, S. / Huang, K. / Stambolian, D. et al. | 2000
- 1829
-
Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mousePaulsen, M. / El-Maarri, O. / Engemann, S. / Strodicke, M. / Franck, O. / Davies, K. / Reinhardt, R. / Reik, W. / Walter, J. et al. | 2000
- 1843
-
Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiencyTorrente, Y. / D'Angelo, M. G. / Li, Z. / Del Bo, R. / Corti, S. / Mericskay, M. / DeLiso, A. / Fassati, A. / Paulin, D. / Comi, G. P. et al. | 2000
- 1853
-
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndromeChrast, R. / Scott, H. S. / Madani, R. / Huber, L. / Wolfer, D. P. / Prinz, M. / Aguzzi, A. / Lipp, H.-P. / Antonarakis, S. E. et al. | 2000
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Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategyIsaacs, A. M. / Davies, K. E. / Hunter, A. J. / Nolan, P. M. / Vizor, L. / Peters, J. / Gale, D. G. / Kelsell, D. P. / Latham, I. D. / Chase, J. M. et al. | 2000
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Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cellsGrayson, C. / Reid, S. N. M. / Ellis, J. A. / Rutherford, A. / Sowden, J. C. / Yates, J. R. W. / Farber, D. B. / Trump, D. et al. | 2000
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Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rateHan, L.-L. / Keller, M. P. / Navidi, W. / Chance, P. F. / Arnheim, N. et al. | 2000
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Human mini-chromosomes with minimal centromeresYang, J. W. / Pendon, C. / Yang, J. / Haywood, N. / Chand, A. / Brown, W. R. A. et al. | 2000
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Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndromeBondurand, N. / Pingault, V. / Goerich, D. E. / Lemort, N. / Sock, E. / Caignec, C. L. / Wegner, M. / Goossens, M. et al. | 2000
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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membraneChapple, J. P. / Hardcastle, A. J. / Grayson, C. / Spackman, L. A. / Willison, K. R. / Cheetham, M. E. et al. | 2000
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Copper-dependent trafficking of Wilson disease mutant ATP7B proteinsForbes, J. R. / Cox, D. W. et al. | 2000
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The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locusCarrel, T. / Purandare, S. M. / Harrison, W. / Elder, F. / Fox, T. / Casey, B. / Herman, G. E. et al. | 2000
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Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptorGlenn, C. L. / Wang, W. Y. S. / Benjafield, A. V. / Morris, B. J. et al. | 2000
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The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicismHas, C. / Bruckner-Tuderman, L. / Muller, D. / Floeth, M. / Folkers, E. / Donnai, D. / Traupe, H. et al. | 2000
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CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulationGaspar, C. / Jannatipour, M. / Dion, P. / Laganiere, J. / Sequeiros, J. / Brais, B. / Rouleau, G. A. et al. | 2000
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Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system functionMarathe, S. / Miranda, S. R. P. / Devlin, C. / Johns, A. / Kuriakose, G. / Williams, K. J. / Schuchman, E. H. / Tabas, I. et al. | 2000
- 1977
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Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteinsMeister, G. / Buhler, D. / Laggerbauer, B. / Zobawa, M. / Lottspeich, F. / Fischer, U. et al. | 2000
- 1987
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Molecular effects of calcium binding mutations in Marfan syndrome depend on domain contextMcGettrick, A. J. / Knott, V. / Willis, A. / Handford, P. A. et al. | 2000
- 1995
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Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structuresShimozawa, N. / Suzuki, Y. / Zhang, Z. / Imamura, A. / Ghaedi, K. / Fujiki, Y. / Kondo, N. et al. | 2000
- 2001
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A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial suturesZhou, Y.-X. / Xu, X. / Chen, L. / Li, C. / Brodie, S. G. / Deng, C.-X. et al. | 2000
- 2009
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Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicityJana, N. R. / Tanaka, M. / Wang, G.-h. / Nukina, N. et al. | 2000
- 2019
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Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactionsCrosbie, R. H. / Lim, L. E. / Moore, S. A. / Hirano, M. / Hays, A. P. / Maybaum, S. W. / Collin, H. / Dovico, S. A. / Stolle, C. A. / Fardeau, M. et al. | 2000
- 2029
-
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10qGuy, J. / Spalluto, C. / McMurray, A. / Hearn, T. / Crosier, M. / Viggiano, L. / Miolla, V. / Archidiacono, N. / Rocchi, M. / Scott, C. et al. | 2000
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-
Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian womenBecherini, L. / Gennari, L. / Masi, L. / Mansani, R. / Massart, F. / Morelli, A. / Falchetti, A. / Gonnelli, S. / Fiorelli, G. / Tanini, A. et al. | 2000
- 2051
-
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)Sertie, A. L. / Sossi, V. / Camargo, A. A. / Zatz, M. / Brahe, C. / Passos-Bueno, M. R. et al. | 2000
- 2059
-
Mutations in the a3 subunit of the vacuolar H^+-ATPase cause infantile malignant osteopetrosisKornak, U. / Schulz, A. / Friedrich, W. / Uhlhaas, S. / Kremens, B. / Voit, T. / Hasan, C. / Bode, U. / Jentsch, T. J. / Kubisch, C. et al. | 2000
- 2067
-
Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemiaGeurts, J. M. W. / Janssen, R. G. J. H. / van Greevenbroek, M. M. J. / van der Kallen, C. J. H. / Cantor, R. M. / Bu, X.-d. / Aouizerat, B. E. / Allayee, H. / Rotter, J. I. / de Bruin, T. W. A. et al. | 2000
- 2075
-
Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndromeHorike, S.-i. / Mitsuya, K. / Meguro, M. / Kotobuki, N. / Kashiwagi, A. / Notsu, T. / Schulz, T. C. / Shirayoshi, Y. / Oshimura, M. et al. | 2000
- 2085
-
Identification of a novel protein interacting with RPGRBoylan, J. P. / Wright, A. F. et al. | 2000
- 2095
-
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptorsRoepman, R. / Bernoud-Hubac, N. / Schick, D. E. / Maugeri, A. / Berger, W. / Ropers, H.-H. / Cremers, F. P. M. / Ferreira, P. A. et al. | 2000
- 2107
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21Kohl, S. / Baumann, B. / Broghammer, M. / Jagle, H. / Sieving, P. / Kellner, U. / Spegal, R. / Anastasi, M. / Zrenner, E. / Sharpe, L. T. et al. | 2000
- 2117
-
An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed geneElliott, D. J. / Venables, J. P. / Newton, C. S. / Lawson, D. / Boyle, S. / Eperon, I. C. / Cooke, H. J. et al. | 2000
- 2125
-
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetranceMoseley, M. L. / Schut, L. J. / Bird, T. D. / Koob, M. D. / Day, J. W. / Ranum, L. P. W. et al. | 2000
- 2131
-
Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disordersKozlowski, K. / Walter, M. A. et al. | 2000
- 2141
-
Myotilin is mutated in limb girdle muscular dystrophy 1AHauser, M. A. / Horrigan, S. K. / Salmikangas, P. / Torian, U. M. / Viles, K. D. / Dancel, R. / Tim, R. W. / Taivainen, A. / Bartoloni, L. / Gilchrist, J. M. et al. | 2000
- 2149
-
Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK ratsFakhrai-Rad, H. / Nikoshkov, A. / Kamel, A. / Fernstrom, M. / Zierath, J. R. / Norgren, S. / Luthman, H. / Galli, J. et al. | 2000
- 2159
-
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiencyRace, V. / Marie, S. / Vincent, M.-F. / Van den Berghe, G. et al. | 2000
- 2167
-
Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heartLam, L. T. / Pham, Y. C. N. / Man, N. t. / Morris, G. E. et al. | 2000
- 2175
-
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesisPassani, L. A. / Bedford, M. T. / Faber, P. W. / McGinnis, K. M. / Sharp, A. H. / Gusella, J. F. / Vonsattel, J.-P. / MacDonald, M. E. et al. | 2000
- 2183
-
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesisKerjean, A. / Dupont, J.-M. / Vasseur, C. / Le Tessier, D. / Cuisset, L. / Paldi, A. / Jouannet, P. / Jeanpierre, M. et al. | 2000
- 2189
-
Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafnessErnest, S. / Rauch, G.-J. / Haffter, P. / Geisler, R. / Petit, C. / Nicolson, T. et al. | 2000
- 2197
-
CREB-binding protein sequestration by expanded polyglutamineMcCampbell, A. / Taylor, J. P. / Taye, A. A. / Robitschek, J. / Li, M. / Walcott, J. / Merry, D. / Chai, Y. / Paulson, H. / Sobue, G. et al. | 2000
- 2205
-
Interaction between LIS1 and doublecortin, two lissencephaly gene productsCaspi, M. / Atlas, R. / Kantor, A. / Sapir, T. / Reiner, O. et al. | 2000
- 2215
-
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317QLamlum, H. / Tassan, N. A. / Jaeger, E. / Frayling, I. / Sieber, O. / Reza, F. B. / Eckert, M. / Rowan, A. / Barclay, E. / Atkin, W. et al. | 2000
- 2223
-
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathwayBlondeau, F. / Laporte, J. / Bodin, S. / Superti-Furga, G. / Payrastre, B. / Mandel, J.-L. et al. | 2000
- 2231
-
Identification of WTAP, a novel Wilms' tumour 1-associating proteinLittle, N. A. / Hastie, N. D. / Davies, R. C. et al. | 2000
- 2241
-
Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier lociFuruya, T. / Salstrom, J. L. / McCall-Vining, S. / Cannon, G. W. / Joe, B. / Remmers, E. F. / Griffiths, M. M. / Wilder, R. L. et al. | 2000
- 2251
-
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomesGanesh, S. / Agarwala, K. L. / Ueda, K. / Akagi, T. / Shoda, K. / Usui, T. / Hashikawa, T. / Osada, H. / Delgado-Escueta, A. V. / Yamakawa, K. et al. | 2000
- 2263
-
Two imprinted gene mutations: three phenotypesCattanach, B. M. / Peters, J. / Ball, S. / Rasberry, C. et al. | 2000
- 2275
-
The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's diseaseLambert, J.-C. / Goumidi, L. / Vrieze, F. W.-D. / Frigard, B. / Harris, J. M. / Cummings, A. / Coates, J. / Pasquier, F. / Cottel, D. / Gaillac, M. et al. | 2000
- 2281
-
Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain proteinTanahashi, H. / Tabira, T. et al. | 2000
- 2291
-
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 provirusesSun, C. / Skaletsky, H. / Rozen, S. / Gromoll, J. / Nieschlag, E. / Oates, R. / Page, D. C. et al. | 2000
- 2297
-
RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemiaBeghini, A. / Ripamonti, C. B. / Peterlongo, P. / Roversi, G. / Cairoli, R. / Morra, E. / Larizza, L. et al. | 2000
- 2305
-
Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear proteinDavidson, J. D. / Riley, B. / Burright, E. N. / Duvick, L. A. / Zoghbi, H. Y. / Orr, H. T. et al. | 2000
- 2313
-
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinaseMounsey, J. P. / Mistry, D. J. / Ai, C. W. / Reddy, S. / Moorman, J. R. et al. | 2000
- 2321
-
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNACalado, A. / Tome, F. M. S. / Brais, B. / Rouleau, G. A. / Kuhn, U. / Wahle, E. / Carmo-Fonseca, M. et al. | 2000
- 2329
-
Functional impairment of lens aquaporin in two families with dominantly inherited cataractsFrancis, P. / Chung, J.-J. / Yasui, M. / Berry, V. / Moore, A. / Wyatt, M. K. / Wistow, G. / Bhattacharya, S. S. / Agre, P. et al. | 2000
- 2335
-
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophyHerrmann, R. / Straub, V. / Blank, M. / Kutzick, C. / Franke, N. / Jacob, E. N. / Lenard, H.-G. / Kroger, S. / Voit, T. et al. | 2000
- 2341
-
Structural and functional analysis of mutations in alkaptonuriaRodriguez, J. M. / Timm, D. E. / Titus, G. P. / de Bernabe, D. B.-V. / Criado, O. / Mueller, H. A. / de Cordoba, S. R. / Penalva, M. A. et al. | 2000
- 2353
-
Decoding the human genome sequenceBentley, D. R. et al. | 2000
- 2359
-
Genetics of asthma and allergic diseaseCookson, W. O. C. / Moffatt, M. F. et al. | 2000
- 2365
-
Rett syndrome: a surprising result of mutation in MECP2Dragich, J. / Houwink-Manville, I. / Schanen, C. et al. | 2000
- 2377
-
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolismGriffiths, W. / Cox, T. et al. | 2000
- 2383
-
Transcriptional regulation of Alzheimer's disease genes: implications for susceptibilityTheuns, J. / Van Broeckhoven, C. et al. | 2000
- 2395
-
The DNA methyltransferases of mammalsBestor, T. H. et al. | 2000
- 2403
-
Single nucleotide polymorphisms as tools in human geneticsGray, I. C. / Campbell, D. A. / Spurr, N. K. et al. | 2000
- 2409
-
Counting cross-overs: characterizing meiotic recombination in mammalsHassold, T. / Sherman, S. / Hunt, P. et al. | 2000
- 2421
-
The 22q11 deletion syndromesScrambler, P. J. et al. | 2000
- 2427
-
Homologous recombination as a mechanism for genome rearrangements: environmental and genetic effectsBishop, A. J. R. / Schiestl, R. H. et al. | 2000
- 2435
-
An update on genetic, structural and functional studies of arylamine N-acetyltransferases in eucaryotes and procaryotesSim, E. / Payton, M. / Noble, M. / Minchin, R. et al. | 2000
- 2443
-
Zebrafish: bridging the gap between development and diseaseDodd, A. / Curtis, P. M. / Williams, L. C. / Love, D. R. et al. | 2000
- 2451
-
Animal models of spinal muscular atrophyMonani, U. R. / Coovert, D. D. / Burghes, A. H. M. et al. | 2000
- 2459
-
Animal models for muscular dystrophy: valuable tools for the development of therapiesAllamand, V. / Campbell, K. P. et al. | 2000
- 2471
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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelSun, M. / Goldin, E. / Stahl, S. / Falardeau, J. L. / Kennedy, J. C. / Acierno, J. S. / Bove, C. / Kaneski, C. R. / Nagle, J. / Bromley, M. C. et al. | 2000
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The neuronal apoptosis inhibitory protein suppresses neuronal differentiation and apoptosis in PC12 cellsGotz, R. / Karch, C. / Digby, M. R. / Troppmair, J. / Rapp, U. R. / Sendtner, M. et al. | 2000
- 2491
-
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic miceYvert, G. / Lindenberg, K. S. / Picaud, S. / Landwehrmeyer, G. B. / Sahel, J.-A. / Mandel, J.-L. et al. | 2000
- 2507
-
Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophyAhmad, A. / Brinson, M. / Hodges, B. L. / Chamberlain, J. S. / Amalfitano, A. et al. | 2000
- 2517
-
Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetesMammarella, S. / Romano, F. / Di Valerio, A. / Creati, B. / Esposito, D. L. / Palmirotta, R. / Capani, F. / Vitullo, P. / Volpe, G. / Battista, P. et al. | 2000
- 2523
-
Human frataxin maintains mitochondrial iron homeostatis in Saccharomyces cerevisiaeCavadini, P. / Gellera, C. / Patel, P. I. / Isaya, G. et al. | 2000
- 2531
-
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentationFlanagan, N. / Healy, E. / Ray, A. / Philips, S. / Todd, C. / Jackson, I. J. / Birch-Machin, M. A. / Rees, J. L. et al. | 2000
- 2539
-
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?Kennedy, L. / Shelbourne, P. F. et al. | 2000
- 2545
-
Intramuscular injection of a plasmid vector expressing human apolipoprotein E limits progression of xanthoma and aortic atheroma in apoE-deficient miceAthanasopoulos, T. / Owen, J. S. / Hassall, D. G. / Dunckley, M. G. / Drew, J. / Goodman, J. / Tagalakis, A. D. / Riddell, D. R. / Dickson, G. et al. | 2000
- 2553
-
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndromeCox, T. C. / Allen, L. R. / Cox, L. L. / Hopwood, B. / Goodwin, B. / Haan, E. / Suthers, G. K. et al. | 2000
- 2563
-
Two long homolgous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination eventsKamp, C. / Hirschmann, P. / Voss, H. / Huellen, K. / Vogt, P. H. et al. | 2000
- 2575
-
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinantHansen, R. S. / Stoger, R. / Wijmenga, C. / Stanek, A. M. / Canfield, T. K. / Luo, P. / Matarazzo, M. R. / D Esposito, M. / Feil, R. / Gimelli, G. et al. | 2000
- 2589
-
Nonfibrillar diffuse amyloid deposition due to a gamma~4~2-secretase site mutation points to an essential role for N-truncated Abeta~4~2 in Alzheimer's diseaseKumar-Singh, S. / De Jonghe, C. / Cruts, M. / Kleinert, R. / Wang, R. / Mercken, M. / De Strooper, B. / Vanderstichele, H. / Lofgren, A. / Vanderhoeven, I. et al. | 2000
- 2599
-
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptorMonnier, N. / Romero, N. B. / Lerale, J. / Nivoche, Y. / Qi, D. / MacLennan, D. H. / Fardeau, M. / Lunardi, J. et al. | 2000
- 2609
-
Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophyUnterrainer, G. / Molzer, B. / Forss-Petter, S. / Berger, J. et al. | 2000
- 2617
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A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotypePritchard, L. / Sloane-Stanley, J. A. / Sharpe, J. A. / Aspinwall, R. / Lu, W. / Buckle, V. / Strmecki, L. / Walker, D. / Ward, C. J. / Alpers, C. E. et al. | 2000
- 2629
-
Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T→C mutation associated with coronary spastic anginaMiyamoto, Y. / Saito, Y. / Nakayama, M. / Shimasaki, Y. / Yoshimura, T. / Yoshimura, M. / Harada, M. / Kajiyama, N. / Kishimoto, I. / Kuwahara, K. et al. | 2000
- 2639
-
TRF1 is a critical trans-acting factor required for de novo telomere formation in human cellsOkabe, J. / Eguchi, A. / Masago, A. / Hayakawa, T. / Nakanishi, M. et al. | 2000
- 2651
-
Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenesGrunau, C. / Hindermann, W. / Rosenthal, A. et al. | 2000
- 2665
-
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCGde Winter, J. P. / van der Weel, L. / de Groot, J. / Stone, S. / Waisfisz, Q. / Arwert, F. / Scheper, R. J. / Kruyt, F. A. E. / Hoatlin, M. E. / Joenje, H. et al. | 2000
- 2675
-
Integrated analysis of sequence evolution and population history using hypervariable compound haplotypesRogers, E. J. / Shone, A. C. / Alonso, S. / May, C. A. / Armour, J. A. L. et al. | 2000
- 2683
-
Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicityTabrizi, S. J. / Orth, M. / Wilkinson, J. M. / Taanman, J.-W. / Warner, T. T. / Cooper, J. M. / Schapira, A. H. V. et al. | 2000
- 2691
-
Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprintingEngemann, S. / Strodicke, M. / Paulsen, M. / Franck, O. / Reinhardt, R. / Lane, N. / Reik, W. / Walter, J. et al. | 2000
- 2707
-
Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cellsBacon, A. L. / Farrington, S. M. / Dunlop, M. G. et al. | 2000
- 2715
-
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisBonten, E. J. / Arts, W. F. / Beck, M. / Covanis, A. / Donati, M. A. / Parini, R. / Zammarchi, E. / d Azzo, A. et al. | 2000
- 2727
-
Alu-mediated PCR artifacts and the constitutional t(11; 22) breakpointKurahashi, H. / Shaikh, T. H. / Emanuel, B. S. et al. | 2000
- 2733
-
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndromeTiranti, V. / Corona, P. / Greco, M. / Taanman, J.-W. / Carrara, F. / Lamantea, E. / Nijtmans, L. / Uziel, G. / Zeviani, M. et al. | 2000
- 2743
-
Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cellsScheffers, M. S. / van der Bent, P. / Prins, F. / Spruit, L. / Breuning, M. H. / Litvinov, S. V. / de Heer, E. / Peters, D. J. M. et al. | 2000
- 2751
-
Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndromeHaataja, R. / Ramet, M. / Marttila, R. / Hallman, M. et al. | 2000
- 2761
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratodermaNorgett, E. E. / Hatsell, S. J. / Carvajal-Huerta, L. / Cabezas, J.-C. R. / Common, J. / Purkis, P. E. / Whittock, N. / Leigh, I. M. / Stevens, H. P. / Kelsell, D. P. et al. | 2000
- 2767
-
Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease geneKovtun, I. V. / Therneau, T. M. / McMurray, C. T. et al. | 2000
- 2781
-
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1Incerti, B. / Cortese, K. / Pizzigoni, A. / Surace, E. M. / Varani, S. / Coppola, M. / Jeffery, G. / Seeliger, M. / Jaissle, G. / Bennett, D. C. et al. | 2000
- 2789
-
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organellesHilditch-Maguire, P. / Trettel, F. / Passani, L. A. / Auerbach, A. / Persichetti, F. / MacDonald, M. E. et al. | 2000
- 2799
-
Dominant phenotypes produced by the HD mutation in STHdh^Q^1^1^1 striatal cellsTrettel, F. / Rigamonti, D. / Hilditch-Maguire, P. / Wheeler, V. C. / Sharp, A. H. / Persichetti, F. / Cattaneo, E. / MacDonald, M. E. et al. | 2000
- 2811
-
Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in DrosophilaChan, H. Y. E. / Warrick, J. M. / Gray-Board, G. L. / Paulson, H. L. / Bonini, N. M. et al. | 2000
- 2821
-
Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological statesKajander, O. A. / Rovio, A. T. / Majamaa, K. / Poulton, J. / Spelbrink, J. N. / Holt, I. J. / Karhunen, P. J. / Jacobs, H. T. et al. | 2000
- 2837
-
Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemiaDevlin, A. M. / Ling, E.-h. / Peerson, J. M. / Fernando, S. / Clarke, R. / Smith, A. D. / Halsted, C. H. et al. | 2000
- 2845
-
The Menkes copper transporter is required for the activation of tyrosinasePetris, M. J. / Strausak, D. / Mercer, J. F. B. et al. | 2000
- 2853
-
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta^1-pyrroline-5-carboxylate synthaseBaumgartner, M. R. / Hu, C.-a. A. / Almashanu, S. / Steel, G. / Obie, C. / Aral, B. / Rabier, D. / Kamoun, P. / Saudubray, J.-M. / Valle, D. et al. | 2000
- 2859
-
Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosisLi, S.-H. / Lam, S. / Cheng, A. L. / Li, X.-J. et al. | 2000
- 2869
-
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 bindingYoung, P. J. / Man, N. t. / Lorson, C. L. / Le, T. T. / Androphy, E. J. / Burghes, A. H. M. / Morris, G. E. et al. | 2000
- 2879
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Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticityvan Overveld, P. G. M. / Lemmers, R. J. F. L. / Deidda, G. / Sandkuijl, L. / Padberg, G. W. / Frants, R. R. / van der Maarel, S. M. et al. | 2000
- 2885
-
The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell developmentDavis, T. L. / Yang, G. J. / McCarrey, J. R. / Bartolomei, M. S. et al. | 2000
- 2895
-
Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependenceHoehe, M. R. / Kopke, K. / Wendel, B. / Rohde, K. / Flachmeier, C. / Kidd, K. K. / Berrettini, W. H. / Church, G. M. et al. | 2000
- 2909
-
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCRCrawford, D. C. / Wilson, B. / Sherman, S. L. et al. | 2000
- 2919
-
Human CENP-H multimers colocalize with CENP-A and CENP-C at active centromere-kinetochore complexesSugata, N. / Li, S. / Earnshaw, W. C. / Yen, T. J. / Yoda, K. / Masumoto, H. / Munekata, E. / Warburton, P. E. / Todokoro, K. et al. | 2000
- 2929
-
Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetesStead, J. D. H. / Buard, J. / Todd, J. A. / Jeffreys, A. J. et al. | 2000
- 2937
-
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosisWang, S. S. / Devuyst, O. / Courtoy, P. J. / Wang, X.-T. / Wang, H. / Wang, Y. / Thakker, R. V. / Guggino, S. / Guggino, W. B. et al. | 2000
- 2947
-
Major factors influencing linkage disequlibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selectionZavattari, P. / Deidda, E. / Whalen, M. / Lampis, R. / Mulargia, A. / Loddo, M. / Eaves, I. / Mastio, G. / Todd, J. A. / Cucca, F. et al. | 2000
- 2959
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The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseasesLampis, R. / Morelli, L. / Congia, M. / Macis, M. D. / Mulargia, A. / Loddo, M. / De Virgiliis, S. / Marrosu, M. G. / Todd, J. A. / Cucca, F. et al. | 2000
- 2967
-
Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of SardiniaZavattari, P. / Lampis, R. / Mulargia, A. / Loddo, M. / Angius, E. / Todd, J. A. / Cucca, F. et al. | 2000
- 2973
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Molecular evolution of multiple recurrent cancers of the bladdervan Tilborg, A. A. G. / de Vries, A. / de Bont, M. / Groenfeld, L. E. / van der Kwast, T. H. / Zwarthoff, E. C. et al. | 2000
- 2981
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Gene expression profiling of primary breast carcinomas using arrays of candidate genesBertucci, F. / Houlgatte, R. / Benziane, A. / Granjeaud, S. / Adelaide, J. / Tagett, R. / Loriod, B. / Jacquemier, J. / Viens, P. / Jordan, B. et al. | 2000
- 2993
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Allele association studies with SSR and SNP markers at known physical distances within a 1 Mb region embracing the ALDH2 locus in the Japanese, demonstrates linkage disequilibrium extending up to 400 kbKoch, H. G. / McClay, J. / Loh, E.-W. / Higuchi, S. / Zhao, J.-H. / Sham, P. / Ball, D. / Craig, I. W. et al. | 2000
- 3001
-
Alternative splicing at the MEVF locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleusPapin, S. / Duquesnoy, P. / Cazeneuve, C. / Pantel, J. / Coppey-Moisan, M. / Dargemont, C. / Amselem, S. et al. | 2000
- 3011
-
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1d Addio, M. / Pizzigoni, A. / Bassi, M. T. / Baschirotto, C. / Valetti, C. / Incerti, B. / Clementi, M. / De Luca, M. / Ballabio, A. / Schiaffino, M. V. et al. | 2000
- 3019
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneCardoso, C. / Leventer, R. J. / Matsumoto, N. / Kuc, J. A. / Ramocki, M. B. / Mewborn, S. K. / Dudlicek, L. L. / May, L. F. / Mills, P. L. / Das, S. et al. | 2000
- 3029
-
Differential chromatin packaging of genomic imprinted regions between expressed and non-expressed allelesWatanabe, T. / Yoshimura, A. / Mishima, Y. / Endo, Y. / Shiroishi, T. / Koide, T. / Sasaki, H. / Asakura, H. / Kominami, R. et al. | 2000
- 3037
-
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complexKirschner, L. S. / Sandrini, F. / Monbo, J. / Lin, J.-P. / Carney, J. A. / Stratakis, C. A. et al. | 2000
- 3047
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Caveolin-3 deficiency causes muscle degeneration in miceHagiwara, Y. / Sasaoka, T. / Araishi, K. / Imamura, M. / Yorifuji, H. / Nonaka, I. / Ozawa, E. / Kikuchi, T. et al. | 2000
- 3055
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Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulationsSerra, E. / Rosenbaum, T. / Winner, U. / Aledo, R. / Ars, E. / Estivill, X. / Lenard, H.-G. / Lazaro, C. et al. | 2000
- 3065
-
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophyWilkie, S. E. / Newbold, R. J. / Deery, E. / Walker, C. E. / Stinton, I. / Ramamurthy, V. / Hurley, J. B. / Bhattacharya, S. S. / Warren, M. J. / Hunt, D. M. et al. | 2000
- 3075
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Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patientsRizzu, P. / Joosse, M. / Ravid, R. / Hoogeveen, A. / Kamphorst, W. / van Swieten, J. C. / Willemsen, R. / Heutink, P. et al. | 2000
- 3083
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Neuronal expression of the fukutin geneSasaki, J. / Ishikawa, K. / Kobayashi, K. / Kondo-Iida, E. / Fukayama, M. / Mizusawa, H. / Takashima, S. / Sakakihara, Y. / Nakamura, Y. / Toda, T. et al. | 2000
- 3091
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A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous systemImamura, M. / Araishi, K. / Noguchi, S. / Ozawa, E. et al. | 2000
- 3101
-
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndromeMuscatelli, F. / Abrous, D. N. / Massacrier, A. / Boccaccio, I. / Le Moal, M. / Cau, P. / Cremer, H. et al. | 2000