Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 23

Results: 19

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2951, doi. 10.1093/hmg/11.23.2951

By:

Oishi, Kimihiko;
Hofmann, Susanna;
Diaz, George A.;
Brown, Tartania;
Manwani, Deepa;
Ng, Lily;
Young, Randy;
Vlassara, Helen;
Ioannou, Yiannis A.;
Forrest, Douglas;
Gelb, Bruce D.

Publication type:

Article

Okihiro syndrome is caused by SALL4 mutations.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2979, doi. 10.1093/hmg/11.23.2979

By:

Kohlhase, Jürgen;
Heinrich, Marielle;
Schubert, Lucia;
Liebers, Manuela;
Kispert, Andreas;
Laccone, Franco;
Turnpenny, Peter;
Winter, Robin M.;
Reardon, William

Publication type:

Article

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2919, doi. 10.1093/hmg/11.23.2919

By:

Botta, Elena;
Nardo, Tiziana;
Lehmann, Alan R.;
Egly, Jean-Marc;
Pedrini, Antonia M.;
Stefanini, Miria

Publication type:

Article

Angiotensin-1-converting enzyme (ACE) plasma concentration is influenced by multiple ACE-linked quantitative trait nucleotides.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2969, doi. 10.1093/hmg/11.23.2969

By:

Cox, Roger;
Bouzekri, Nourdine;
Martin, Sabrina;
Southam, Lorraine;
Hugill, Alison;
Golamaully, Mahamadee;
Cooper, Richard;
Adeyemo, Adebowale;
Soubrier, Florent;
Ward, Ryk;
Lathrop, G. Mark;
Matsuda, Fumihiko;
Farrall, Martin

Publication type:

Article

Initiation of the breakage–fusion-bridge mechanism through common fragile site activation in human breast cancer cells: the model of PIP gene duplication from a break at FRA7I.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2887, doi. 10.1093/hmg/11.23.2887

By:

Ciullo, Marina;
Debily, Marie-Anne;
Rozier, Lorène;
Autiero, Monica;
Billault, Alain;
Mayau, Véronique;
El Marhomy, Sandrine;
Guardiola, John;
Bernheim, Alain;
Coullin, Philippe;
Piatier-Tonneau, Dominique;
Debatisse, Michelle

Publication type:

Article

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2961, doi. 10.1093/hmg/11.23.2961

By:

Jones, Siân;
Emmerson, Paul;
Maynard, Julie;
Best, Jacqueline M.;
Jordan, Sheila;
Williams, Geraint T.;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2941, doi. 10.1093/hmg/11.23.2941

By:

Di Giaimo, Rossella;
Riccio, Massimo;
Santi, Spartaco;
Galeotti, Cesira;
Ambrosetti, Davide C.;
Melli, Marialuisa

Publication type:

Article

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2805, doi. 10.1093/hmg/11.23.2805

By:

Perrin-Vidoz, Laure;
Sinilnikova, Olga M.;
Stoppa-Lyonnet, Dominique;
Lenoir, Gilbert M.;
Mazoyer, Sylvie

Publication type:

Article

Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2989, doi. 10.1093/hmg/11.23.2989

By:

Pianese, Luigi;
Busino, Luca;
De Biase, Irene;
de Cristofaro, Tiziana;
Lo Casale, Maria S.;
Giuliano, Paola;
Monticelli, Antonella;
Turano, Mimmo;
Criscuolo, Chiara;
Filla, Alessandro;
Varrone, Stelio;
Cocozza, Sergio

Publication type:

Article

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin–Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2929, doi. 10.1093/hmg/11.23.2929

By:

Zeniou, Maria;
Ding, Thomas;
Trivier, Elisabeth;
Hanauer, André

Publication type:

Article

Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2905, doi. 10.1093/hmg/11.23.2905

By:

Yang, Wen;
Dunlap, John R.;
Andrews, Richard B.;
Wetzel, Ronald

Publication type:

Article

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2877, doi. 10.1093/hmg/11.23.2877

By:

Peters, Linda M.;
Anderson, David W.;
Griffith, Andrew J.;
Grundfast, Kenneth M.;
San Agustin, Theresa B.;
Madeo, Anne C.;
Friedman, Thomas B.;
Morell, Robert J.

Publication type:

Article

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2845, doi. 10.1093/hmg/11.23.2845

By:

Sheen, Volney L.;
Feng, Yuanyi;
Graham, Donna;
Takafuta, Toshiro;
Shapiro, Sandor S.;
Walsh, Christopher A.

Publication type:

Article

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2815, doi. 10.1093/hmg/11.23.2815

By:

Singaraja, Roshni R.;
Hadano, Shinji;
Metzler, Martina;
Givan, Scott;
Wellington, Cheryl L.;
Warby, Simon;
Yanai, Anat;
Gutekunst, Claire-Anne;
Leavitt, Blair R.;
Yi, Hong;
Fichter, Keith;
Gan, Lu;
McCutcheon, Krista;
Chopra, Vikramjit;
Michel, Jennifer;
Hersch, Steven M.;
Ikeda, Joh-E;
Hayden, Michael R.

Publication type:

Article

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2867, doi. 10.1093/hmg/11.23.2867

By:

Zeeuwen, Patrick L.J.M.;
van Vlijmen-Willems, Ivonne M.J.J.;
Hendriks, Wiljan;
Merkx, Gerard F.M.;
Schalkwijk, Joost

Publication type:

Article

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2829, doi. 10.1093/hmg/11.23.2829

By:

Guipponi, Michel;
Vuagniaux, Grégoire;
Wattenhofer, Marie;
Shibuya, Kazunori;
Vazquez, Maria;
Dougherty, Loretta;
Scamuffa, Nathalie;
Guida, Elizabeth;
Okui, Michiyo;
Rossier, Colette;
Hancock, Manuela;
Buchet, Karine;
Reymond, Alexandre;
Hummler, Edith;
Marzella, Phillip L.;
Kudoh, Jun;
Shimizu, Nobuyoshi;
Scott, Hamish S.;
Antonarakis, Stylianos E.;
Rossier, Bernard C.

Publication type:

Article

Genetic modulation of polyglutamine toxicity by protein conjugation pathways in Drosophila.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2895, doi. 10.1093/hmg/11.23.2895

By:

Chan, H.Y. Edwin;
Warrick, John M.;
Andriola, Isabella;
Merry, Diane;
Bonini, Nancy M.

Publication type:

Article

Charcot–Marie–Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2837, doi. 10.1093/hmg/11.23.2837

By:

Brownlees, Janet;
Ackerley, Steven;
Grierson, Andrew J.;
Jacobsen, Nick J.O.;
Shea, Kerry;
Anderton, Brian H.;
Leigh, P. Nigel;
Shaw, Christopher E.;
Miller, Christopher C.J.

Publication type:

Article

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 23, p. 2855, doi. 10.1093/hmg/11.23.2855

By:

Cobbold, Christian;
Ponnambalam, Sreenivasan;
Francis, Michael J.;
Monaco, Anthony P.

Publication type:

Article