Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 24

Results: 19

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3241, doi. 10.1093/hmg/ddh343

By:

Cantrell, V. Ashley;
Owens, Sarah E.;
Chandler, Ronald L.;
Airey, David C.;
Bradley, Kevin M.;
Smith, Jeffrey R.;
Southard-Smith, E. Michelle

Publication type:

Article

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3219, doi. 10.1093/hmg/ddh342

By:

Tyynismaa, Henna;
Sembongi, Hiroshi;
Bokori-Brown, Monika;
Granycome, Caroline;
Ashley, Neil;
Poulton, Joanna;
Jalanko, Anu;
Spelbrink, Johannes N.;
Holt, Ian J.;
Suomalainen, Anu

Publication type:

Article

PAX4 gene variations predispose to ketosis-prone diabetes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3151, doi. 10.1093/hmg/ddh341

By:

Mauvais-Jarvis, Franck;
Smith, Stuart B.;
May, Cédric Le;
Leal, Suzanne M.;
Gautier, Jean-François;
Molokhia, Mariam;
Riveline, Jean-Pierre;
Rajan, Arun S.;
Kevorkian, Jean-Philippe;
Zhang, Sumei;
Vexiau, Patrick;
German, Michael S.;
Vaisse, Christian

Publication type:

Article

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3127, doi. 10.1093/hmg/ddh335

By:

Alderton, Gemma K.;
Joenje, Hans;
Varon, Raymonda;
Børglum, Anders D.;
Jeggo, Penny A.;
O'Driscoll, Mark

Publication type:

Article

Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3103, doi. 10.1093/hmg/ddh340

By:

Bouzigon, Emmanuelle;
Dizier, Marie-Hélène;
Krähenbühl, Christine;
Lemainque, Arnaud;
Annesi-Maesano, Isabella;
Betard, Christine;
Bousquet, Jean;
Charpin, Denis;
Gormand, Frédéric;
Guilloud-Bataille, Michel;
Just, Jocelyne;
Moual, Nicole Le;
Maccario, Jean;
Matran, Régis;
Neukirch, Françoise;
Oryszczyn, Marie-Pierre;
Paty, Evelyne;
Pin, Isabelle;
Rosenberg-Bourgin, Myriam;
Vervloet, Daniel

Publication type:

Article

HNF1β/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3139, doi. 10.1093/hmg/ddh338

By:

Barbacci, Elena;
Chalkiadaki, Angeliki;
Masdeu, Christelle;
Haumaitre, Cécile;
Lokmane, Ludmilla;
Loirat, Chantal;
Cloarec, Sylvie;
Talianidis, Iannis;
Bellanne-Chantelot, Christine;
Cereghini, Silvia

Publication type:

Article

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3089, doi. 10.1093/hmg/ddh337

By:

Rana, Naheed A.;
Ebenezer, Neil D.;
Webster, Andrew R.;
Linares, Andres R.;
Whitehouse, David B.;
Povey, Sue;
Hardcastle, Alison J.

Publication type:

Article

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3069, doi. 10.1093/hmg/ddh336

By:

Leeuwen, Irma S. Lantinga-van;
Dauwerse, Johannes G.;
Baelde, Hans J.;
Leonhard, Wouter N.;
van de Wal, Annemieke;
Ward, Christopher J.;
Verbeek, Sjef;
DeRuiter, Marco C.;
Breuning, Martijn H.;
de Heer, Emile;
Peters, Dorien J.M.

Publication type:

Article

Branch site haplotypes that control alternative splicing.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3189

By:

Královičová, Jana;
Houngninou-Molango, Sophie;
Krämer, Angela;
Vořechovský, Igor

Publication type:

Article

A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3045, doi. 10.1093/hmg/ddh339

By:

de Mattia, Fabrizio;
Savelkoul, Paul J.M.;
Bichet, Daniel G.;
Kamsteeg, Erik-Jan;
Konings, Irene B.M.;
Marr, Nannette;
Arthus, Marie-Françoise;
Lonergan, Michèle;
van Os, Carel H.;
van der Sluijs, Peter;
Robertson, Gary;
Deen, Peter M.T.

Publication type:

Article

MUSK, a new target for mutations causing congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3229, doi. 10.1093/hmg/ddh333

By:

Chevessier, Frédéric;
Faraut, Brice;
Ravel-Chapuis, Aymeric;
Richard, Pascale;
Gaudon, Karen;
Bauché, Stéphanie;
Prioleau, Cassandra;
Herbst, Ruth;
Goillot, Evelyne;
Ioos, Christine;
Azulay, Jean-Philippe;
Attarian, Shahram;
Leroy, Jean-Paul;
Fournier, Emmanuel;
Legay, Claire;
Schaeffer, Laurent;
Koenig, Jeanine;
Fardeau, Michel;
Eymard, Bruno;
Pouget, Jean

Publication type:

Article

Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3203, doi. 10.1093/hmg/ddh332

By:

Jinnai, Nobuyoshi;
Sakagami, Takuro;
Sekigawa, Takashi;
Kakihara, Miho;
Nakajima, Toshiaki;
Yoshida, Kenichi;
Goto, Shin;
Hasegawa, Takashi;
Koshino, Takeshi;
Hasegawa, Yoshinori;
Inoue, Hiromasa;
Suzuki, Naohito;
Sano, Yasuyuki;
Inoue, Ituro

Publication type:

Article

Prediction of sensitivity of advanced non-small cell lung cancers to gefitinib (Iressa, ZD1839).

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3029, doi. 10.1093/hmg/ddh331

By:

Kakiuchi, Soji;
Daigo, Yataro;
Ishikawa, Nobuhisa;
Furukawa, Chiyuki;
Tsunoda, Tatsuhiko;
Yano, Seiji;
Nakagawa, Kazuhiko;
Tsuruo, Takashi;
Kohno, Nobuoki;
Fukuoka, Masahiro;
Sone, Saburo;
Nakamura, Yusuke

Publication type:

Article

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3161, doi. 10.1093/hmg/ddh330

By:

Lee, Hsien-Yang;
Xu, Ying;
Huang, Yong;
Ahn, Andrew H.;
Auburger, Georg W.J.;
Pandolfo, Massimo;
Kwieciński, Hubert;
Grimes, David A.;
Lang, Anthony E.;
Nielsen, Jorgen E.;
Averyanov, Yuri;
Servidei, Serenella;
Friedman, Andrzej;
Bogaert, Patrick Van;
Abramowicz, Marc J.;
Bruno, Michiko K.;
Sorensen, Beatrice F.;
Tang, Ling;
Fu, Ying-Hui;
Ptáček, Louis J.

Publication type:

Article

Transcription factor MEF2A mutations in patients with coronary artery disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3181, doi. 10.1093/hmg/ddh329

By:

Bhagavatula, M.R. Krishna;
Fan, Chun;
Shen, Gong-Qing;
Cassano, June;
Plow, Edward F.;
Topol, Eric J.;
Wang, Qing

Publication type:

Article

Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3115, doi. 10.1093/hmg/ddh328

By:

Dragatsis, Ioannis;
Zeitlin, Scott;
Dietrich, Paula

Publication type:

Article

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3079, doi. 10.1093/hmg/ddh327

By:

Jiang, Hong;
Mankodi, Ami;
Swanson, Maurice S.;
Moxley, Richard T.;
Thornton, Charles A.

Publication type:

Article

Heterologous mitochondrial DNA recombination in human cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3171, doi. 10.1093/hmg/ddh326

By:

D'Aurelio, Marilena;
Gajewski, Carl D.;
Lin, Michael T.;
Mauck, William M.;
Shao, Leon Z.;
Lenaz, Giorgio;
Moraes, Carlos T.;
Manfredi, Giovanni

Publication type:

Article

Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 24, p. 3057, doi. 10.1093/hmg/ddh325

By:

Kovtun, I.V.;
Thornhill, A.R.;
McMurray, C.T.

Publication type:

Article