Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 23

Results: 22

Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4735, doi. 10.1093/hmg/ddq389

By:

Cha, Pei-Chieng;
Mushiroda, Taisei;
Takahashi, Atsushi;
Kubo, Michiaki;
Minami, Shiro;
Kamatani, Naoyuki;
Nakamura, Yusuke

Publication type:

Article

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4595, doi. 10.1093/hmg/ddq387

By:

Klauke, Baerbel;
Kossmann, Sabine;
Gaertner, Anna;
Brand, Kristina;
Stork, Ines;
Brodehl, Andreas;
Dieding, Mareike;
Walhorn, Volker;
Anselmetti, Dario;
Gerdes, Désirée;
Bohms, Birte;
Schulz, Uwe;
zu Knyphausen, Edzard;
Vorgerd, Matthias;
Gummert, Jan;
Milting, Hendrik

Publication type:

Article

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4634, doi. 10.1093/hmg/ddq394

By:

Kumari, Daman;
Usdin, Karen

Publication type:

Article

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4694, doi. 10.1093/hmg/ddq399

By:

Fritsche, Lars G.;
Lauer, Nadine;
Hartmann, Andrea;
Stippa, Selina;
Keilhauer, Claudia N.;
Oppermann, Martin;
Pandey, Manoj K.;
Köhl, Jörg;
Zipfel, Peter F.;
Weber, Bernhard H.F.;
Skerka, Christine

Publication type:

Article

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4715, doi. 10.1093/hmg/ddq405

By:

Wally, Verena;
Brunner, Marietta;
Lettner, Thomas;
Wagner, Martin;
Koller, Ulrich;
Trost, Andrea;
Murauer, Eva M.;
Hainzl, Stefan;
Hintner, Helmut;
Bauer, Johann W.

Publication type:

Article

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4625, doi. 10.1093/hmg/ddq393

By:

Puskaric, Sandra;
Schmitteckert, Stefanie;
Mori, Alessandro D.;
Glaser, Anne;
Schneider, Katja U.;
Bruneau, Benoit G.;
Blaschke, Rüdiger J.;
Steinbeisser, Herbert;
Rappold, Gudrun

Publication type:

Article

The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4663, doi. 10.1093/hmg/ddq397

By:

Yates, Laura L.;
Papakrivopoulou, Jenny;
Long, David A.;
Goggolidou, Paraskevi;
Connolly, John O.;
Woolf, Adrian S.;
Dean, Charlotte H.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 23, p. NP, doi. 10.1093/hmg/ddq482
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 23, p. NP, doi. 10.1093/hmg/ddq488
Publication type:: Article

HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of molecular chaperones.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4677, doi. 10.1093/hmg/ddq398

By:

Vos, Michel J.;
Zijlstra, Marianne P.;
Kanon, Bart;
van Waarde-Verhagen, Maria A.W.H.;
Brunt, Ewout R.P.;
Oosterveld-Hut, Hendrika M.J.;
Carra, Serena;
Sibon, Ody C.M.;
Kampinga, Harm H.

Publication type:

Article

Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4705, doi. 10.1093/hmg/ddq401

By:

Cagliani, Rachele;
Riva, Stefania;
Biasin, Mara;
Fumagalli, Matteo;
Pozzoli, Uberto;
Lo Caputo, Sergio;
Mazzotta, Francesco;
Piacentini, Luca;
Bresolin, Nereo;
Clerici, Mario;
Sironi, Manuela

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 23, p. NP, doi. 10.1093/hmg/ddq484
Publication type:: Article

Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs of the NF1 tumor suppressor gene.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4643, doi. 10.1093/hmg/ddq395

By:

Lee, Jeong-Soo;
Padmanabhan, Arun;
Shin, Jimann;
Zhu, Shizhen;
Guo, Feng;
Kanki, John P.;
Epstein, Jonathan A.;
Look, A. Thomas

Publication type:

Article

Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4573, doi. 10.1093/hmg/ddq385

By:

Menzies, Fiona M.;
Hourez, Raphael;
Imarisio, Sara;
Raspe, Marcel;
Sadiq, Oana;
Chandraratna, Dhia;
O'Kane, Cahir;
Rock, Kenneth L.;
Reits, Eric;
Goldberg, Alfred L.;
Rubinsztein, David C.

Publication type:

Article

Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4545, doi. 10.1093/hmg/ddq378

By:

Lakowski, J.;
Baron, M.;
Bainbridge, J.;
Barber, A.C.;
Pearson, R.A.;
Ali, R.R.;
Sowden, J.C.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 23, p. NP, doi. 10.1093/hmg/ddq486
Publication type:: Article

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4608, doi. 10.1093/hmg/ddq388

By:

Charton, Karine;
Danièle, Nathalie;
Vihola, Anna;
Roudaut, Carinne;
Gicquel, Evelyne;
Monjaret, François;
Tarrade, Anne;
Sarparanta, Jaakko;
Udd, Bjarne;
Richard, Isabelle

Publication type:

Article

Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4745, doi. 10.1093/hmg/ddq392

By:

Murphy, Amy;
Chu, Jen-Hwa;
Xu, Mousheng;
Carey, Vincent J.;
Lazarus, Ross;
Liu, Andy;
Szefler, Stanley J.;
Strunk, Robert;
DeMuth, Karen;
Castro, Mario;
Hansel, Nadia N.;
Diette, Gregory B.;
Vonakis, Becky M.;
Franklin Adkinson, N.;
Klanderman, Barbara J.;
Senter-Sylvia, Jody;
Ziniti, John;
Lange, Christoph;
Pastinen, Tomi;
Raby, Benjamin A.

Publication type:

Article

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4654, doi. 10.1093/hmg/ddq396

By:

Calva-Cerqueira, Daniel;
Dahdaleh, Fadi S.;
Woodfield, George;
Chinnathambi, Sathivel;
Nagy, Peter L.;
Larsen-Haidle, Joy;
Weigel, Ronald J.;
Howe, James R.

Publication type:

Article

Functional interactions between the LRP6 WNT co-receptor and folate supplementation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4560, doi. 10.1093/hmg/ddq384

By:

Gray, Jason D.;
Nakouzi, Ghunwa;
Slowinska-Castaldo, Bozena;
Dazard, Jean-Eudes;
Sunil Rao, J.;
Nadeau, Joseph H.;
Elizabeth Ross, M.

Publication type:

Article

Functional relevance of the IRF-1 promoter polymorphism rs2549009 on transcriptional activity in a native genomic environment.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4587, doi. 10.1093/hmg/ddq386

By:

Mertens, Jasmin;
Ramadori, Giuliano;
Mihm, Sabine

Publication type:

Article

Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 23, p. 4726, doi. 10.1093/hmg/ddq407

By:

Rao, Sudheendra N.R.;
Maity, Ranjan;
Sharma, Jaiprakash;
Dey, Parthanarayan;
Shankar, Susarla Krishna;
Satishchandra, Parthasarathy;
Jana, Nihar Ranjan

Publication type:

Article