Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 17

Results: 12

A stop codon mutation in SCN9A causes lack of pain sensation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2114, doi. 10.1093/hmg/ddm160

By:

Ahmad, Sultan;
Dahllund, Leif;
Eriksson, Anders B.;
Hellgren, Dennis;
Karlsson, Urban;
Lund, Per-Eric;
Meijer, Inge A.;
Meury, Luc;
Mills, Tracy;
Moody, Adrian;
Morinville, Anne;
Morten, John;
O'Donnell, Dajan;
Raynoschek, Carina;
Salter, Hugh;
Rouleau, Guy A.;
Krupp, Johannes J.

Publication type:

Article

The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2021, doi. 10.1093/hmg/ddm150

By:

Thys, Melissa;
Schrauwen, Isabelle;
Vanderstraeten, Kathleen;
Janssens, Katrien;
Dieltjens, Nele;
Van Den Bogaert, Kris;
Fransen, Erik;
Chen, Wenjie;
Ealy, Megan;
Claustres, Mireille;
Cremers, Cor R.W.J.;
Dhooge, Ingeborg;
Declau, Frank;
Claes, Jos;
Van de Heyning, Paul;
Vincent, Robert;
Somers, Thomas;
Offeciers, Erwin;
Smith, Richard J.H.;
Van Camp, Guy

Publication type:

Article

Rapid evolution of primate ESX1, an X-linked placenta- and testis-expressed homeobox gene.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2053, doi. 10.1093/hmg/ddm153

By:

Wang, Xiaoxia;
Zhang, Jianzhi

Publication type:

Article

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2072, doi. 10.1093/hmg/ddm155

By:

Piróg-Garcia, Katarzyna A.;
Meadows, Roger S.;
Knowles, Lynette;
Heinegård, Dick;
Thornton, David J.;
Kadler, Karl E.;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article

The molecular basis of Pallister–Hall associated polydactyly.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2089, doi. 10.1093/hmg/ddm156

By:

Hill, Patrick;
Wang, Baolin;
Rüther, Ulrich

Publication type:

Article

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2097, doi. 10.1093/hmg/ddm157

By:

Cheishvili, David;
Maayan, Channa;
Smith, Yoav;
Ast, Gil;
Razin, Aharon

Publication type:

Article

Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2105, doi. 10.1093/hmg/ddm158

By:

Banks, Glen B.;
Gregorevic, Paul;
Allen, James M.;
Finn, Eric E.;
Chamberlain, Jeffrey S.

Publication type:

Article

Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2040, doi. 10.1093/hmg/ddm152

By:

Besson, Vanessa;
Brault, Véronique;
Duchon, Arnaud;
Togbe, Dieudonné;
Bizot, Jean-Charles;
Quesniaux, Valérie F.J.;
Ryffel, Bernard;
Hérault, Yann

Publication type:

Article

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2122, doi. 10.1093/hmg/ddm162

By:

Goold, Robert;
Hubank, Michael;
Hunt, Abigail;
Holton, Janice;
Menon, Rajesh P.;
Revesz, Tamas;
Pandolfo, Massimo;
Matilla-Dueñas, Antoni

Publication type:

Article

Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2061, doi. 10.1093/hmg/ddm154

By:

Hasegawa, Ayako;
van der Bliek, Alexander M.

Publication type:

Article

Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2031, doi. 10.1093/hmg/ddm151

By:

Luzón-Toro, Berta;
de la Torre, Elena Rubio;
Delgado, Asunción;
Pérez-Tur, Jordi;
Hilfiker, Sabine

Publication type:

Article

Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 17, p. 2135, doi. 10.1093/hmg/ddm164

By:

Thompson, Cheryl L.;
Klein, Barbara E.K.;
Klein, Ronald;
Xu, Zhiying;
Capriotti, Jennifer;
Joshi, Tripti;
Leontiev, Dmitry;
Lee, Kristine E.;
Elston, Robert C.;
Iyengar, Sudha K.

Publication type:

Article