Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 3

Results: 24

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 580, doi. 10.1093/hmg/ddq501

By:

Nakamori, Masayuki;
Pearson, Christopher E.;
Thornton, Charles A.

Publication type:

Article

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 455, doi. 10.1093/hmg/ddq492

By:

Lee, Yi-Ching;
Chang, Chia-Jung;
Bali, Deeksha;
Chen, Yuan-Tsong;
Yan, Yu-Ting

Publication type:

Article

Diaphragm rescue alone prevents heart dysfunction in dystrophic mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 413, doi. 10.1093/hmg/ddq477

By:

Crisp, Alastair;
Yin, HaiFang;
Goyenvalle, Aurelie;
Betts, Corinne;
Moulton, Hong M.;
Seow, Yiqi;
Babbs, Arran;
Merritt, Thomas;
Saleh, Amer F.;
Gait, Michael J.;
Stuckey, Daniel J.;
Clarke, Kieran;
Davies, Kay E.;
Wood, Matthew J.A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 3, p. NP, doi. 10.1093/hmg/ddr005
Publication type:: Article

Epigenetic signatures and temporal expression of lineage-specific genes in hESCs during differentiation to hepatocytes in vitro.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 401, doi. 10.1093/hmg/ddq476

By:

Kim, Hyemin;
Jang, Mi-Jin;
Kang, Man-Jong;
Han, Yong-Mahn

Publication type:

Article

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 553, doi. 10.1093/hmg/ddq500

By:

Hubers, Lisa;
Valderrama-Carvajal, Hector;
Laframboise, Janik;
Timbers, Janie;
Sanchez, Gabriel;
Côté, Jocelyn

Publication type:

Article

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 628, doi. 10.1093/hmg/ddq479

By:

Samardzija, M.;
Tanimoto, N.;
Kostic, C.;
Beck, S.;
Oberhauser, V.;
Joly, S.;
Thiersch, M.;
Fahl, E.;
Arsenijevic, Y.;
von Lintig, J.;
Wenzel, A.;
Seeliger, M.W.;
Grimm, C.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 3, p. NP, doi. 10.1093/hmg/ddr001
Publication type:: Article

Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 436, doi. 10.1093/hmg/ddq490

By:

Yang, Shao H.;
Chang, Sandy Y.;
Ren, Shuxun;
Wang, Yibin;
Andres, Douglas A.;
Spielmann, H. Peter;
Fong, Loren G.;
Young, Stephen G.

Publication type:

Article

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 510, doi. 10.1093/hmg/ddq496

By:

Kahle, Juliette J.;
Gulbahce, Natali;
Shaw, Chad A.;
Lim, Janghoo;
Hill, David E.;
Barabási, Albert-László;
Zoghbi, Huda Y.

Publication type:

Article

Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 541, doi. 10.1093/hmg/ddq499

By:

Carmignac, Virginie;
Quéré, Ronan;
Durbeej, Madeleine

Publication type:

Article

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 615

By:

Saad, Mohamad;
Lesage, Suzanne;
Saint-Pierre, Aude;
Corvol, Jean-Christophe;
Zelenika, Diana;
Lambert, Jean-Charles;
Vidailhet, Marie;
Mellick, George D.;
Lohmann, Ebba;
Durif, Franck;
Pollak, Pierre;
Damier, Philippe;
Tison, François;
Silburn, Peter A.;
Tzourio, Christophe;
Forlani, Sylvie;
Loriot, Marie-Anne;
Giroud, Maurice;
Helmer, Catherine;
Portet, Florence

Publication type:

Article

Global patterns of genetic diversity and signals of natural selection for human ADME genes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 528, doi. 10.1093/hmg/ddq498

By:

Li, Jing;
Zhang, Luyong;
Zhou, Hang;
Stoneking, Mark;
Tang, Kun

Publication type:

Article

Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 629, doi. 10.1093/hmg/ddq480

By:

Sun, Qi;
Cornelis, Marilyn C.;
Kraft, Peter;
Qi, Lu;
van Dam, Rob M.;
Girman, Cynthia J.;
Laurie, Cathy C.;
Mirel, Daniel B.;
Gong, Huizi;
Sheu, Chau-Chyun;
Christiani, David C.;
Hunter, David J.;
Mantzoros, Christos S.;
Hu, Frank B.

Publication type:

Article

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 482, doi. 10.1093/hmg/ddq494

By:

Won, Jungyeon;
de Evsikova, Caralina Marín;
Smith, Richard S.;
Hicks, Wanda L.;
Edwards, Malia M.;
Longo-Guess, Chantal;
Li, Tiansen;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506

By:

Treves, Susan;
Vukcevic, Mirko;
Jeannet, Pierre-Yves;
Levano, Soledad;
Girard, Thierry;
Urwyler, Albert;
Fischer, Dirk;
Voit, Thomas;
Jungbluth, Heinz;
Lillis, Sue;
Muntoni, Francesco;
Quinlivan, Ros;
Sarkozy, Anna;
Bushby, Kate;
Zorzato, Francesco

Publication type:

Article

Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 422, doi. 10.1093/hmg/ddq478

By:

Gallenberger, Martin;
Meinel, Dominik M.;
Kroeber, Markus;
Wegner, Michael;
Milkereit, Philipp;
Bösl, Michael R.;
Tamm, Ernst R.

Publication type:

Article

Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen species.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 497, doi. 10.1093/hmg/ddq495

By:

O'Keefe, Louise V.;
Colella, Alex;
Dayan, Sonia;
Chen, Qingwen;
Choo, Amanda;
Jacob, Reuben;
Price, Gareth;
Venter, Deon;
Richards, Robert I.

Publication type:

Article

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 445, doi. 10.1093/hmg/ddq491

By:

Zeng, Ling-Hui;
Rensing, Nicholas R.;
Zhang, Bo;
Gutmann, David H.;
Gambello, Michael J.;
Wong, Michael

Publication type:

Article

ELF1 is associated with systemic lupus erythematosus in Asian populations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 601, doi. 10.1093/hmg/ddq474

By:

Yang, Jing;
Yang, Wanling;
Hirankarn, Nattiya;
Ye, Dong Qing;
Zhang, Yan;
Pan, Hai-Feng;
Mok, Chi Chiu;
Chan, Tak Mao;
Wong, Raymond Woon Sing;
Mok, Mo Yin;
Lee, Ka Wing;
Wong, Sik Nin;
Leung, Alexander Moon Ho;
Li, Xiang-Pei;
Avihingsanon, Yingyos;
Rianthavorn, Pornpimol;
Deekajorndej, Thavatchai;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk;
Baum, Larry

Publication type:

Article

Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 466, doi. 10.1093/hmg/ddq493

By:

Jagger, Daniel;
Collin, Gayle;
Kelly, John;
Towers, Emily;
Nevill, Graham;
Longo-Guess, Chantal;
Benson, Jennifer;
Halsey, Karin;
Dolan, David;
Marshall, Jan;
Naggert, Jürgen;
Forge, Andrew

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 3, p. NP, doi. 10.1093/hmg/ddr003
Publication type:: Article

PCSK6 is associated with handedness in individuals with dyslexia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 3, p. 608, doi. 10.1093/hmg/ddq475

By:

Scerri, Thomas S.;
Brandler, William M.;
Paracchini, Silvia;
Morris, Andrew P.;
Ring, Susan M.;
Richardson, Alex J.;
Talcott, Joel B.;
Stein, John;
Monaco, Anthony P.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 3, p. NP, doi. 10.1093/hmg/ddr007
Publication type:: Article