Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 3

Results: 10

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 265

By:

Ali, Asif;
Christie, Paul T.;
Grigorieva, Irina V.;
Harding, Brian;
Van Esch, Hilde;
Ahmed, S. Faisal;
Bitner-Glindzicz, Maria;
Blind, Eberhard;
Bloch, Catherine;
Christin, Patricia;
Clayton, Peter;
Gecz, Jozef;
Gilbert-Dussardier, Brigitte;
Guillen-Navarro, Encarna;
Hackett, Anna;
Halac, Isil;
Hendy, Geoffrey N.;
Lalloo, Fiona;
Mache, Christoph J.;
Mughal, Zulf

Publication type:

Article

Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 286, doi. 10.1093/hmg/ddl457

By:

Yao, Yong-Gang;
Ellison, Felicia M.;
McCoy, J. Philip;
Chen, Jichun;
Young, Neal S.

Publication type:

Article

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ɛ-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 327, doi. 10.1093/hmg/ddl472

By:

Esapa, Christopher T.;
Waite, Adrian;
Locke, Matthew;
Benson, Matthew A.;
Kraus, Michaela;
McIlhinney, R.A. Jeffrey;
Sillitoe, Roy V.;
Beesley, Philip W.;
Blake, Derek J.

Publication type:

Article

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 295, doi. 10.1093/hmg/ddl463

By:

Sundar, Purnima Desai;
Yu, Chang-En;
Sieh, Weiva;
Steinbart, Ellen;
Garruto, Ralph M.;
Oyanagi, Kiyomitsu;
Craig, Ulla-Katrina;
Bird, Thomas D.;
Wijsman, Ellen M.;
Galasko, Douglas R.;
Schellenberg, Gerard D.

Publication type:

Article

Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 317, doi. 10.1093/hmg/ddl466

By:

Chang, Jae-Woong;
Choi, Hyunwoo;
Kim, Hyun-Ji;
Jo, Dong-Gyu;
Jeon, Young-Jun;
Noh, Jee-Yeon;
Park, Woo Jin;
Jung, Yong-Keun

Publication type:

Article

A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 343, doi. 10.1093/hmg/ddl478

By:

Hancock, Anne L.;
Brown, Keith W.;
Moorwood, Kim;
Moon, Hanlim;
Holmgren, Claes;
Mardikar, Sudhanshu H.;
Dallosso, Anthony R.;
Klenova, Elena;
Loukinov, Dmitri;
Ohlsson, Rolf;
Lobanenkov, Victor V.;
Malik, Karim

Publication type:

Article

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 307, doi. 10.1093/hmg/ddl465

By:

Jobling, Mark A.;
Lo, Iek Chi C.;
Turner, Daniel J.;
Bowden, Georgina R.;
Lee, Andrew C.;
Xue, Yali;
Carvalho-Silva, Denise;
Hurles, Matthew E.;
Adams, Susan M.;
Chang, Yuet Meng;
Kraaijenbrink, Thirsa;
Henke, Jürgen;
Guanti, Ginevra;
McKeown, Brian;
van Oorschot, Roland A.H.;
Mitchell, R. John;
de Knijff, Peter;
Tyler-Smith, Chris;
Parkin, Emma J.

Publication type:

Article

Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 243, doi. 10.1093/hmg/ddl447

By:

Raby, Benjamin A.;
Soto-Quiros, Manuel E.;
Avila, Lydiana;
Lake, Stephen L.;
Murphy, Amy;
Liang, Catherine;
Fournier, Eduardo;
Spesny, Mitzi;
Sylvia, Jody S.;
Verner, Andrei;
Hudson, Thomas J.;
Klanderman, Barbara J.;
Freimer, Nelson B.;
Silverman, Edwin K.;
Celedón, Juan C.

Publication type:

Article

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 276, doi. 10.1093/hmg/ddl455

By:

Fagman, H.;
Liao, J.;
Westerlund, J.;
Andersson, L.;
Morrow, B.E.;
Nilsson, M.

Publication type:

Article

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 3, p. 254, doi. 10.1093/hmg/ddl448

By:

Sparago, Angela;
Russo, Silvia;
Cerrato, Flavia;
Ferraiuolo, Serena;
Castorina, Pierangela;
Selicorni, Angelo;
Schwienbacher, Christine;
Negrini, Massimo;
Ferrero, Giovanni Battista;
Silengo, Margherita Cirillo;
Anichini, Cecilia;
Larizza, Lidia;
Riccio, Andrea

Publication type:

Article