Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 6

Results: 20

Whole-genome detection of disease-associated deletions or excess homozygosity in a case–control study of rheumatoid arthritis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1249

By:

Wu, Chih-Chieh;
Shete, Sanjay;
Jo, Eun-Ji;
Xu, Yaji;
Lu, Emily Y.;
Chen, Wei V.;
Amos, Christopher I.

Publication type:

Article

Developmental abnormalities in mouse embryos lacking the HDL receptor SR-BI.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1086, doi. 10.1093/hmg/dds510

By:

Santander, Nicolás Guillermo;
Contreras-Duarte, Susana;
Awad, María Fernanda;
Lizama, Carlos;
Passalacqua, Isabella;
Rigotti, Attilio;
Busso, Dolores

Publication type:

Article

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1097, doi. 10.1093/hmg/dds515

By:

Bassuk, Alexander G.;
Muthuswamy, Lakshmi B.;
Boland, Riley;
Smith, Tiffany L.;
Hulstrand, Alissa M.;
Northrup, Hope;
Hakeman, Matthew;
Dierdorff, Jason M.;
Yung, Christina K.;
Long, Abby;
Brouillette, Rachel B.;
Au, Kit Sing;
Gurnett, Christina;
Houston, Douglas W.;
Cornell, Robert A.;
Manak, J. Robert

Publication type:

Article

GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1140, doi. 10.1093/hmg/dds522

By:

Biosa, Alice;
Trancikova, Alzbeta;
Civiero, Laura;
Glauser, Liliane;
Bubacco, Luigi;
Greggio, Elisa;
Moore, Darren J.

Publication type:

Article

Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1074, doi. 10.1093/hmg/dds509

By:

Sohl, Christal D.;
Kasiviswanathan, Rajesh;
Copeland, William C.;
Anderson, Karen S.

Publication type:

Article

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1233, doi. 10.1093/hmg/dds530

By:

García-Corzo, Laura;
Luna-Sánchez, Marta;
Doerrier, Carolina;
García, José A.;
Guarás, Adela;
Acín-Pérez, Rebeca;
Bullejos-Peregrín, Javier;
López, Ana;
Escames, Germaine;
Enríquez, José A.;
Acuña-Castroviejo, Darío;
López, Luis C.

Publication type:

Article

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1180, doi. 10.1093/hmg/dds525

By:

Iliff, Adam J.;
Renoux, Abigail J.;
Krans, Amy;
Usdin, Karen;
Sutton, Michael A.;
Todd, Peter K.

Publication type:

Article

Evidence of associations of APOBEC3B gene deletion with susceptibility to persistent HBV infection and hepatocellular carcinoma.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1262, doi. 10.1093/hmg/dds513

By:

Zhang, Tongwen;
Cai, Jianqiang;
Chang, Jiang;
Yu, Dianke;
Wu, Chen;
Yan, Tao;
Zhai, Kan;
Bi, Xinyu;
Zhao, Hong;
Xu, Jian;
Tan, Wen;
Qu, Chunfeng;
Lin, Dongxin

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt090
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt093
Publication type:: Article

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1218, doi. 10.1093/hmg/dds529

By:

Piccoli, Claudia;
Izzo, Antonella;
Scrima, Rosella;
Bonfiglio, Ferdinando;
Manco, Rosanna;
Negri, Rosa;
Quarato, Giovanni;
Cela, Olga;
Ripoli, Maria;
Prisco, Marina;
Gentile, Flaviana;
Calì, Gaetano;
Pinton, Paolo;
Conti, Anna;
Nitsch, Lucio;
Capitanio, Nazzareno

Publication type:

Article

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1193, doi. 10.1093/hmg/dds526

By:

Daigle, J. Gavin;
Lanson, Nicholas A.;
Smith, Rebecca B.;
Casci, Ian;
Maltare, Astha;
Monaghan, John;
Nichols, Charles D.;
Kryndushkin, Dmitri;
Shewmaker, Frank;
Pandey, Udai Bhan

Publication type:

Article

Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1206, doi. 10.1093/hmg/dds528

By:

Barlow, Amanda J.;
Dixon, Jill;
Dixon, Michael;
Trainor, Paul A.

Publication type:

Article

Alleviation of seipinopathy-related ER stress by triglyceride storage.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1157, doi. 10.1093/hmg/dds523

By:

Hölttä-Vuori, Maarit;
Salo, Veijo T.;
Ohsaki, Yuki;
Suster, Maximiliano L.;
Ikonen, Elina

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt092
Publication type:: Article

Elevated NADPH oxidase activity contributes to oxidative stress and cell death in Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1112, doi. 10.1093/hmg/dds516

By:

Valencia, Antonio;
Sapp, Ellen;
Kimm, Jeffrey S.;
McClory, Hollis;
Reeves, Patrick B.;
Alexander, Jonathan;
Ansong, Kwadwo A.;
Masso, Nicholas;
Frosch, Matthew P.;
Kegel, Kimberly B.;
Li, Xueyi;
DiFiglia, Marian

Publication type:

Article

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1167, doi. 10.1093/hmg/dds524

By:

Ching, James K.;
Elizabeth, Sarita V.;
Ju, Jeong-Sun;
Lusk, Caleb;
Pittman, Sara K.;
Weihl, Conrad C.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 6, p. NP, doi. 10.1093/hmg/ddt091
Publication type:: Article

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1061, doi. 10.1093/hmg/dds508

By:

Orioli, Donata;
Compe, Emmanuel;
Nardo, Tiziana;
Mura, Manuela;
Giraudon, Christophe;
Botta, Elena;
Arrigoni, Laura;
Peverali, Fiorenzo A.;
Egly, Jean Marc;
Stefanini, Miria

Publication type:

Article

Mitochondrial antibiograms in personalized medicine.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 6, p. 1132, doi. 10.1093/hmg/dds517

By:

Pacheu-Grau, David;
Gómez-Durán, Aurora;
Iglesias, Eldris;
López-Gallardo, Ester;
Montoya, Julio;
Ruiz-Pesini, Eduardo

Publication type:

Article