Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 15

Results: 21

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 15, p. NP, doi. 10.1093/hmg/ddq243
Publication type:: Article

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3103, doi. 10.1093/hmg/ddq223

By:

Pauws, Erwin;
Hoshino, Aya;
Bentley, Lucy;
Prajapati, Suresh;
Keller, Charles;
Hammond, Peter;
Martinez-Barbera, Juan-Pedro;
Moore, Gudrun E.;
Stanier, Philip

Publication type:

Article

Evolution of alternative splicing in primate brain transcriptomes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2958, doi. 10.1093/hmg/ddq201

By:

Lin, Lan;
Shen, Shihao;
Jiang, Peng;
Sato, Seiko;
Davidson, Beverly L.;
Xing, Yi

Publication type:

Article

Tau Ser262 phosphorylation is critical for Aβ42-induced tau toxicity in a transgenic Drosophila model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2947, doi. 10.1093/hmg/ddq200

By:

Iijima, Koichi;
Gatt, Anthony;
Iijima-Ando, Kanae

Publication type:

Article

ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2974, doi. 10.1093/hmg/ddq202

By:

Pedrini, Steve;
Sau, Daniela;
Guareschi, Stefania;
Bogush, Marina;
Brown, Robert H.;
Naniche, Nicole;
Kia, Azadeh;
Trotti, Davide;
Pasinelli, Piera

Publication type:

Article

Fragile X protein controls neural stem cell proliferation in the Drosophila brain.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3068, doi. 10.1093/hmg/ddq213

By:

Callan, Matthew A.;
Cabernard, Clemens;
Heck, Jennifer;
Luois, Samantha;
Doe, Chris Q.;
Zarnescu, Daniela C.

Publication type:

Article

Refining the association of MHC with multiple sclerosis in African Americans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3080, doi. 10.1093/hmg/ddq197

By:

McElroy, Joseph P.;
Cree, Bruce A. C.;
Caillier, Stacy J.;
Gregersen, Peter K.;
Herbert, Joseph;
Khan, Omar A.;
Freudenberg, Jan;
Lee, Annette;
Bridges, S. Louis;
Hauser, Stephen L.;
Oksenberg, Jorge R.;
Gourraud, Pierre-Antoine

Publication type:

Article

A comprehensive analysis of common IGF1, IGFBP1 and IGFBP3 genetic variation with prospective IGF-I and IGFBP-3 blood levels and prostate cancer risk among Caucasians†.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3089, doi. 10.1093/hmg/ddq210

By:

Schumacher, Fredrick R.;
Cheng, Iona;
Freedman, Matthew L.;
Mucci, Lorelei;
Allen, Naomi E.;
Pollak, Michael N.;
Hayes, Richard B.;
Stram, Daniel O.;
Canzian, Federico;
Henderson, Brian E.;
Hunter, David J.;
Virtamo, Jarmo;
Manjer, Jonas;
Gaziano, J. Michael;
Kolonel, Laurence N.;
Tjønneland, Anne;
Albanes, Demetrius;
Calle, Eugenia E.;
Giovannucci, Edward;
Crawford, E. David

Publication type:

Article

Methylation profile of TP53 regulatory pathway and mtDNA alterations in breast cancer patients lacking TP53 mutations.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2936, doi. 10.1093/hmg/ddq199

By:

Barekati, Zeinab;
Radpour, Ramin;
Kohler, Corina;
Zhang, Bei;
Toniolo, Paolo;
Lenner, Per;
Lv, Qing;
Zheng, Hong;
Zhong, Xiao Yan

Publication type:

Article

BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3030, doi. 10.1093/hmg/ddq208

By:

Yang, Yu-Ping;
Anderson, Ryan M.;
Klingensmith, John

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 15, p. NP, doi. 10.1093/hmg/ddq245
Publication type:: Article

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3043, doi. 10.1093/hmg/ddq209

By:

Yu-Wai-Man, Patrick;
Sitarz, Kamil S.;
Samuels, David C.;
Griffiths, Philip G.;
Reeve, Amy K.;
Bindoff, Laurence A.;
Horvath, Rita;
Chinnery, Patrick F.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 15, p. NP, doi. 10.1093/hmg/ddq239
Publication type:: Article

In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3053, doi. 10.1093/hmg/ddq212

By:

Faideau, Mathilde;
Kim, Jinho;
Cormier, Kerry;
Gilmore, Richard;
Welch, Mackenzie;
Auregan, Gwennaelle;
Dufour, Noelle;
Guillermier, Martine;
Brouillet, Emmanuel;
Hantraye, Philippe;
Déglon, Nicole;
Ferrante, Robert J.;
Bonvento, Gilles

Publication type:

Article

Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3021, doi. 10.1093/hmg/ddq207

By:

Rantakari, Pia;
Nikkilä, Jenni;
Jokela, Heli;
Ola, Roxana;
Pylkäs, Katri;
Lagerbohm, Heidi;
Sainio, Kirsi;
Poutanen, Matti;
Winqvist, Robert

Publication type:

Article

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2998, doi. 10.1093/hmg/ddq205

By:

Bernascone, Ilenia;
Janas, Sylvie;
Ikehata, Masami;
Trudu, Matteo;
Corbelli, Alessandro;
Schaeffer, Céline;
Rastaldi, Maria Pia;
Devuyst, Olivier;
Rampoldi, Luca

Publication type:

Article

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2987, doi. 10.1093/hmg/ddq204

By:

Vaccaro, Anna M.;
Motta, Marialetizia;
Tatti, Massimo;
Scarpa, Susanna;
Masuelli, Laura;
Bhat, Meenakshi;
Vanier, Marie T.;
Tylki-Szymanska, Anna;
Salvioli, Rosa

Publication type:

Article

SDHA is a tumor suppressor gene causing paraganglioma.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3011, doi. 10.1093/hmg/ddq206

By:

Burnichon, Nelly;
Brière, Jean-Jacques;
Libé, Rossella;
Vescovo, Laure;
Rivière, Julie;
Tissier, Frédérique;
Jouanno, Elodie;
Jeunemaitre, Xavier;
Bénit, Paule;
Tzagoloff, Alexander;
Rustin, Pierre;
Bertherat, Jérôme;
Favier, Judith;
Gimenez-Roqueplo, Anne-Paule

Publication type:

Article

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3102, doi. 10.1093/hmg/ddq203

By:

Kabashi, Edor;
Lin, Li;
Tradewell, Miranda L.;
Dion, Patrick A.;
Bercier, Valérie;
Bourgouin, Patrick;
Rochefort, Daniel;
Hadj, Samar Bel;
Durham, Heather D.;
Velde, Christine Vande;
Rouleau, Guy A.;
Drapeau, Pierre

Publication type:

Article

Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 2927, doi. 10.1093/hmg/ddq198

By:

Nothnagel, Michael;
Lu, Timothy Tehua;
Kayser, Manfred;
Krawczak, Michael

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 15, p. NP, doi. 10.1093/hmg/ddq241
Publication type:: Article