Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 10

Results: 13

PTEN regulates phospholipase D and phospholipase C.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1157, doi. 10.1093/hmg/ddm063

By:

Alvarez-Breckenridge, Christopher A.;
Waite, Kristin A.;
Eng, Charis

Publication type:

Article

Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1133, doi. 10.1093/hmg/ddm054

By:

Shelbourne, Peggy F.;
Keller-McGandy, Christine;
Bi, Wenya Linda;
Yoon, Song-Ro;
Dubeau, Louis;
Veitch, Nicola J.;
Vonsattel, Jean Paul;
Wexler, Nancy S.;
Norman, Arnheim;
Augood, Sarah J.

Publication type:

Article

The Connexin31 F137L mutant mouse as a model for the human skin disease Erythrokeratodermia variabilis (EKV).

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1216, doi. 10.1093/hmg/ddm068

By:

Schnichels, Marc;
Wörsdörfer, Philipp;
Dobrowolski, Radoslaw;
Markopoulos, Christian;
Kretz, Markus;
Schwarz, Gabriele;
Winterhager, Elke;
Willecke, Klaus

Publication type:

Article

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3β-hydroxysterol Δ14-reductase deficiency.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1176, doi. 10.1093/hmg/ddm065

By:

Wassif, Christopher A.;
Brownson, Kirstyn E.;
Sterner, Allison L.;
Forlino, Antonella;
Zerfas, Patricia M.;
Wilson, William K.;
Starost, Matthew F.;
Porter, Forbes D.

Publication type:

Article

Modulation of nucleosome dynamics in Huntington's disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1164, doi. 10.1093/hmg/ddm064

By:

Stack, Edward C.;
Del Signore, Steven J.;
Luthi-Carter, Ruth;
Soh, Byoung Y.;
Goldstein, Darlene R.;
Matson, Samantha;
Goodrich, Sarah;
Markey, Angela L.;
Cormier, Kerry;
Hagerty, Sean W.;
Smith, Karen;
Ryu, Hoon;
Ferrante, Robert J.

Publication type:

Article

Restriction landmark genome scanning identifies culture-induced DNA methylation instability in the human embryonic stem cell epigenome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1253, doi. 10.1093/hmg/ddm074

By:

Allegrucci, Cinzia;
Wu, Yue-Zhong;
Thurston, Alexandra;
Denning, Chris N.;
Priddle, Helen;
Mummery, Christine L.;
Ward-van Oostwaard, Dorien;
Andrews, Peter W.;
Stojkovic, Miodrag;
Smith, Nigel;
Parkin, Tony;
Jones, Mark Edmondson;
Warren, Graham;
Yu, Li;
Brena, Romulo Martin;
Plass, Christoph;
Young, Lorraine E.

Publication type:

Article

Characterization of recessive RYR1 mutations in core myopathies.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1269, doi. 10.1093/hmg/ddm092

By:

Zhou, Haiyan;
Yamaguchi, Naohiro;
Xu, Le;
Wang, Ying;
Sewry, Caroline;
Jungbluth, Heinz;
Zorzato, Francesco;
Bertini, Enrico;
Muntoni, Francesco;
Meissner, Gerhard;
Treves, Susan

Publication type:

Article

Contribution of the putative genetic factors and ANKH gene polymorphisms to variation of circulating calciotropic molecules, PTH and BGP.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1233, doi. 10.1093/hmg/ddm071

By:

Vistoropsky, Yulia;
Keter, Michal;
Malkin, Ida;
Trofimov, Svetlana;
Kobyliansky, Eugene;
Livshits, Gregory

Publication type:

Article

Characterization and investigation of single nucleotide polymorphisms and a novel TLR2 mutation in the human TLR2 gene.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1225, doi. 10.1093/hmg/ddm070

By:

Merx, Sabine;
Neumaier, Michael;
Wagner, Hermann;
Kirschning, Carsten J;
Ahmad-Nejad, Parviz

Publication type:

Article

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1143, doi. 10.1093/hmg/ddm061

By:

Bien-Willner, Gabriel A.;
Stankiewicz, Paweł;
Lupski, James R.

Publication type:

Article

Identification of polymorphic antioxidant response elements in the human genome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1188, doi. 10.1093/hmg/ddm066

By:

Wang, Xuting;
Tomso, Daniel J.;
Chorley, Brian N.;
Cho, Hye-Youn;
Cheung, Vivian G.;
Kleeberger, Steven R.;
Bell, Douglas A.

Publication type:

Article

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1201, doi. 10.1093/hmg/ddm067

By:

Ho, Matthew S.P.;
Tsang, Kwok Yeung;
Lo, Rebecca L.K.;
Susic, Miki;
Mäkitie, Outi;
Chan, Tori W.Y.;
Ng, Vivian C.W.;
Sillence, David O.;
Boot-Handford, Raymond P.;
Gibson, Gary;
Cheung, Kenneth M.C.;
Cole, William G.;
Cheah, Kathryn S.E.;
Chan, Danny

Publication type:

Article

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 10, p. 1241, doi. 10.1093/hmg/ddm072

By:

Fernandez-Vizarra, Erika;
Bugiani, Marianna;
Goffrini, Paola;
Carrara, Franco;
Farina, Laura;
Procopio, Elena;
Donati, Alice;
Uziel, Graziella;
Ferrero, Iliana;
Zeviani, Massimo

Publication type:

Article