Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 17

Results: 23

Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3415, doi. 10.1093/hmg/ddr247

By:

Colobran, Roger;
Armengol, Maria del Pilar;
Faner, Rosa;
Gärtner, Martina;
Tykocinski, Lars-Oliver;
Lucas, Anna;
Ruiz, Marta;
Juan, Manel;
Kyewski, Bruno;
Pujol-Borrell, Ricardo

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 17, p. NP, doi. 10.1093/hmg/ddr322
Publication type:: Article

A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3424, doi. 10.1093/hmg/ddr251

By:

Ren, Jie;
Jegga, Anil G.;
Zhang, Minlu;
Deng, Jingyuan;
Liu, Junbo;
Gordon, Christopher B.;
Aronow, Bruce J.;
Lu, Long J.;
Zhang, Bo;
Ma, Jun

Publication type:

Article

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3366, doi. 10.1093/hmg/ddr243

By:

Schaaf, Christian P.;
Sabo, Aniko;
Sakai, Yasunari;
Crosby, Jacy;
Muzny, Donna;
Hawes, Alicia;
Lewis, Lora;
Akbar, Humeira;
Varghese, Robin;
Boerwinkle, Eric;
Gibbs, Richard A.;
Zoghbi, Huda Y.

Publication type:

Article

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3535, doi. 10.1093/hmg/ddr267

By:

Bagheri-Fam, Stefan;
Argentaro, Anthony;
Svingen, Terje;
Combes, Alexander N.;
Sinclair, Andrew H.;
Koopman, Peter;
Harley, Vincent R.

Publication type:

Article

A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3525, doi. 10.1093/hmg/ddr264

By:

Taylor, Kira C.;
Lange, Leslie A.;
Zabaneh, Delilah;
Lange, Ethan;
Keating, Brendan J.;
Tang, Weihong;
Smith, Nicholas L.;
Delaney, Joseph A.;
Kumari, Meena;
Hingorani, Aroon;
North, Kari E.;
Kivimaki, Mika;
Tracy, Russell P.;
O'Donnell, Christopher J.;
Folsom, Aaron R.;
Green, David;
Humphries, Steve E.;
Reiner, Alexander P.

Publication type:

Article

Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3507, doi. 10.1093/hmg/ddr249

By:

Tanaka, Yasuhito;
Kurosaki, Masayuki;
Nishida, Nao;
Sugiyama, Masaya;
Matsuura, Kentaro;
Sakamoto, Naoya;
Enomoto, Nobuyuki;
Yatsuhashi, Hiroshi;
Nishiguchi, Shuhei;
Hino, Keisuke;
Hige, Shuhei;
Itoh, Yoshito;
Tanaka, Eiji;
Mochida, Satoshi;
Honda, Masao;
Hiasa, Yoichi;
Koike, Asako;
Sugauchi, Fuminaka;
Kaneko, Shuichi;
Izumi, Namiki

Publication type:

Article

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3356, doi. 10.1093/hmg/ddr242

By:

Huang, Kun;
Sanders, Shaun S.;
Kang, Rujun;
Carroll, Jeffrey B.;
Sutton, Liza;
Wan, Junmei;
Singaraja, Roshni;
Young, Fiona B.;
Liu, Lili;
El-Husseini, Alaa;
Davis, Nicholas G.;
Hayden, Michael R.

Publication type:

Article

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3376, doi. 10.1093/hmg/ddr244

By:

Todeschini, Anne-Laure;
Dipietromaria, Aurélie;
L'Hôte, David;
Boucham, Fatima Zohra;
Georges, Adrien B.;
Pandaranayaka, P.J. Eswari;
Krishnaswamy, Sankaran;
Rivals, Isabelle;
Bazin, Claude;
Veitia, Reiner A.

Publication type:

Article

Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3494, doi. 10.1093/hmg/ddr248

By:

Eleftherohorinou, Hariklia;
Hoggart, Clive J.;
Wright, Victoria J.;
Levin, Michael;
Coin, Lachlan J.M.

Publication type:

Article

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3467, doi. 10.1093/hmg/ddr263

By:

Chung, Daniel W.;
Rudnicki, Dobrila D.;
Yu, Lan;
Margolis, Russell L.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 17, p. NP, doi. 10.1093/hmg/ddr320
Publication type:: Article

A new deletion refines the boundaries of the murine Prader–Willi syndrome imprinting center.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3461, doi. 10.1093/hmg/ddr262

By:

DuBose, Amanda J.;
Smith, Emily Y.;
Yang, Thomas P.;
Johnstone, Karen A.;
Resnick, James L.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 17, p. NP, doi. 10.1093/hmg/ddr318
Publication type:: Article

Alpha-synuclein functions in the nucleus to protect against hydroxyurea-induced replication stress in yeast.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3401, doi. 10.1093/hmg/ddr246

By:

Liu, Xianpeng;
Lee, Yong Joo;
Liou, Liang-Chun;
Ren, Qun;
Zhang, Zhaojie;
Wang, Shaoxiao;
Witt, Stephan N.

Publication type:

Article

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3331, doi. 10.1093/hmg/ddr239

By:

Ermolova, Natalia;
Kudryashova, Elena;
DiFranco, Marino;
Vergara, Julio;
Kramerova, Irina;
Spencer, Melissa J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 17, p. NP, doi. 10.1093/hmg/ddr316
Publication type:: Article

Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3517, doi. 10.1093/hmg/ddr250

By:

Zuvich, Rebecca L.;
Bush, William S.;
McCauley, Jacob L.;
Beecham, Ashley H.;
De Jager, Philip L.;
Ivinson, Adrian J.;
Compston, Alastair;
Hafler, David A.;
Hauser, Stephen L.;
Sawcer, Stephen J.;
Pericak-Vance, Margaret A.;
Barcellos, Lisa F.;
Mortlock, Douglas P.;
Haines, Jonathan L.

Publication type:

Article

Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3450, doi. 10.1093/hmg/ddr253

By:

Reynard, Louise N.;
Bui, Catherine;
Canty-Laird, Elizabeth G.;
Young, David A.;
Loughlin, John

Publication type:

Article

Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3346, doi. 10.1093/hmg/ddr240

By:

Kabaeva, Zhyldyz;
Meekhof, Kailyn E.;
Michele, Daniel E.

Publication type:

Article

Retrotransposition of marked SVA elements by human L1s in cultured cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3386, doi. 10.1093/hmg/ddr245

By:

Hancks, Dustin C.;
Goodier, John L.;
Mandal, Prabhat K.;
Cheung, Ling E.;
Kazazian, Haig H.

Publication type:

Article

Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3478, doi. 10.1093/hmg/ddr265

By:

Ljubicic, Vladimir;
Miura, Pedro;
Burt, Matthew;
Boudreault, Louise;
Khogali, Shiemaa;
Lunde, John A.;
Renaud, Jean-Marc;
Jasmin, Bernard J.

Publication type:

Article

Genomic, genetic and functional dissection of bitter taste responses to artificial sweeteners.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 17, p. 3437, doi. 10.1093/hmg/ddr252

By:

Roudnitzky, Natacha;
Bufe, Bernd;
Thalmann, Sophie;
Kuhn, Christina;
Gunn, Howard C.;
Xing, Chao;
Crider, Bill P.;
Behrens, Maik;
Meyerhof, Wolfgang;
Wooding, Stephen P.

Publication type:

Article