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
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
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
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
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
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
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
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