Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 7

Results: 27

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu109
Publication type:: Article

Hypomethylation signature of tumor-initiating cells predicts poor prognosis of ovarian cancer patients.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1894, doi. 10.1093/hmg/ddt583

By:

Liao, Yu-Ping;
Chen, Lin-Yu;
Huang, Rui-Lan;
Su, Po-Hsuan;
Chan, Michael W.Y.;
Chang, Cheng-Chang;
Yu, Mu-Hsien;
Wang, Peng-Hui;
Yen, Ming-Shyen;
Nephew, Kenneth P.;
Lai, Hung-Cheng

Publication type:

Article

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1709, doi. 10.1093/hmg/ddt560

By:

Kuo, Debbie S.;
Labelle-Dumais, Cassandre;
Mao, Mao;
Jeanne, Marion;
Kauffman, William B.;
Allen, Jennifer;
Favor, Jack;
Gould, Douglas B.

Publication type:

Article

Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1742, doi. 10.1093/hmg/ddt562

By:

Bernard, Clémence;
Kim, Hyoung-Tai;
Torero Ibad, Raoul;
Lee, Eun Jung;
Simonutti, Manuel;
Picaud, Serge;
Acampora, Dario;
Simeone, Antonio;
Di Nardo, Ariel A.;
Prochiantz, Alain;
Moya, Kenneth L.;
Kim, Jin Woo

Publication type:

Article

Functional characterization of SIM1-associated enhancers.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1700, doi. 10.1093/hmg/ddt559

By:

Kim, Mee J.;
Oksenberg, Nir;
Hoffmann, Thomas J.;
Vaisse, Christian;
Ahituv, Nadav

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu110
Publication type:: Article

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1879, doi. 10.1093/hmg/ddt580

By:

Garton, F.C.;
Seto, J.T.;
Quinlan, K.G.R.;
Yang, N.;
Houweling, P.J.;
North, K.N.

Publication type:

Article

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1916

By:

Goris, An;
van Setten, Jessica;
Diekstra, Frank;
Ripke, Stephan;
Patsopoulos, Nikolaos A.;
Sawcer, Stephen J.;
van Es, Michael;
Andersen, Peter M.;
Melki, Judith;
Meininger, Vincent;
Hardiman, Orla;
Landers, John E.;
Brown, Robert H.;
Shatunov, Aleksey;
Leigh, Nigel;
Al-Chalabi, Ammar;
Shaw, Christopher E.;
Traynor, Bryan J.;
Chiò, Adriano;
Restagno, Gabriella

Publication type:

Article

Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1829, doi. 10.1093/hmg/ddt576

By:

Mincheva-Tasheva, Stefka;
Obis, Elia;
Tamarit, Jordi;
Ros, Joaquim

Publication type:

Article

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1923, doi. 10.1093/hmg/ddt575

By:

Zhang, Lei;
Choi, Hyung Jin;
Estrada, Karol;
Leo, Paul J.;
Li, Jian;
Pei, Yu-Fang;
Zhang, Yinping;
Lin, Yong;
Shen, Hui;
Liu, Yao-Zhong;
Liu, Yongjun;
Zhao, Yingchun;
Zhang, Ji-Gang;
Tian, Qing;
Wang, Yu-ping;
Han, Yingying;
Ran, Shu;
Hai, Rong;
Zhu, Xue-Zhen;
Wu, Shuyan

Publication type:

Article

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1856, doi. 10.1093/hmg/ddt578

By:

Ohkawara, Bisei;
Cabrera-Serrano, Macarena;
Nakata, Tomohiko;
Milone, Margherita;
Asai, Nobuyuki;
Ito, Kenyu;
Ito, Mikako;
Masuda, Akio;
Ito, Yasutomo;
Engel, Andrew G.;
Ohno, Kinji

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu108
Publication type:: Article

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1687, doi. 10.1093/hmg/ddt558

By:

Allache, Redouane;
Lachance, Stéphanie;
Guyot, Marie Claude;
De Marco, Patrizia;
Merello, Elisa;
Justice, Monica J.;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

Comparative receptor tyrosine kinase profiling identifies a novel role for AXL in human stem cell pluripotency.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1802, doi. 10.1093/hmg/ddt571

By:

Son, Mi-Young;
Seol, Binna;
Han, Yong-Mahn;
Cho, Yee Sook

Publication type:

Article

Membrane damage-induced vesicle–vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1677, doi. 10.1093/hmg/ddt557

By:

McDade, Joel R.;
Michele, Daniel E.

Publication type:

Article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1934, doi. 10.1093/hmg/ddt581

By:

Milne, Roger L.;
Herranz, Jesús;
Michailidou, Kyriaki;
Dennis, Joe;
Tyrer, Jonathan P.;
Zamora, M. Pilar;
Arias-Perez, José Ignacio;
González-Neira, Anna;
Pita, Guillermo;
Alonso, M. Rosario;
Wang, Qin;
Bolla, Manjeet K.;
Czene, Kamila;
Eriksson, Mikael;
Humphreys, Keith;
Darabi, Hatef;
Li, Jingmei;
Anton-Culver, Hoda;
Neuhausen, Susan L.;
Ziogas, Argyrios

Publication type:

Article

DNAJC13 mutations in Parkinson disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1794

By:

Vilariño-Güell, Carles;
Rajput, Alex;
Milnerwood, Austen J.;
Shah, Brinda;
Szu-Tu, Chelsea;
Trinh, Joanne;
Yu, Irene;
Encarnacion, Mary;
Munsie, Lise N.;
Tapia, Lucia;
Gustavsson, Emil K.;
Chou, Patrick;
Tatarnikov, Igor;
Evans, Daniel M.;
Pishotta, Frederick T.;
Volta, Mattia;
Beccano-Kelly, Dayne;
Thompson, Christina;
Lin, Michelle K.;
Sherman, Holly E.

Publication type:

Article

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1869, doi. 10.1093/hmg/ddt579

By:

Kawahara, Genri;
Gasperini, Molly J.;
Myers, Jennifer A.;
Widrick, Jeffrey J.;
Eran, Alal;
Serafini, Peter R.;
Alexander, Matthew S.;
Pletcher, Mathew T.;
Morris, Carl A.;
Kunkel, Louis M.

Publication type:

Article

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1817, doi. 10.1093/hmg/ddt573

By:

Alves, Ana Catarina;
Etxebarria, Aitor;
Soutar, Anne Katherine;
Martin, Cesar;
Bourbon, Mafalda

Publication type:

Article

P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1723, doi. 10.1093/hmg/ddt561

By:

Sakami, Sanae;
Kolesnikov, Alexander V.;
Kefalov, Vladimir J.;
Palczewski, Krzysztof

Publication type:

Article

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1771, doi. 10.1093/hmg/ddt568

By:

Cao, Lei;
Molina, Jessica;
Abad, Clemer;
Carmona-Mora, Paulina;
Cárdenas Oyarzo, Areli;
Young, Juan I.;
Walz, Katherina

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 7, p. NP, doi. 10.1093/hmg/ddu107
Publication type:: Article

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1842, doi. 10.1093/hmg/ddt577

By:

Whitmore, Charlotte;
Fernandez-Fuente, Marta;
Booler, Helen;
Parr, Callum;
Kavishwar, Manoli;
Ashraf, Attia;
Lacey, Erica;
Kim, Jihee;
Terry, Rebecca;
Ackroyd, Mark. R.;
Wells, Kim E.;
Muntoni, Francesco;
Wells, Dominic J.;
Brown, Susan C.

Publication type:

Article

Sex- and age-interacting eQTLs in human complex diseases.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1947, doi. 10.1093/hmg/ddt582

By:

Yao, Chen;
Joehanes, Roby;
Johnson, Andrew D.;
Huan, Tianxiao;
Esko, Tõnu;
Ying, Saixia;
Freedman, Jane E.;
Murabito, Joanne;
Lunetta, Kathryn L.;
Metspalu, Andres;
Munson, Peter J.;
Levy, Daniel

Publication type:

Article

Functional microRNAs and target sites are created by lineage-specific transposition.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1783, doi. 10.1093/hmg/ddt569

By:

Spengler, Ryan M.;
Oakley, Clayton K.;
Davidson, Beverly L.

Publication type:

Article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585

By:

Tort, Frederic;
Ferrer-Cortès, Xènia;
Thió, Marta;
Navarro-Sastre, Aleix;
Matalonga, Leslie;
Quintana, Ester;
Bujan, Núria;
Arias, Angela;
García-Villoria, Judit;
Acquaviva, Cecile;
Vianey-Saban, Christine;
Artuch, Rafael;
García-Cazorla, Àngels;
Briones, Paz;
Ribes, Antonia

Publication type:

Article

SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 7, p. 1754, doi. 10.1093/hmg/ddt567

By:

See, Kelvin;
Yadav, Preeti;
Giegerich, Marieke;
Cheong, Pearl S.;
Graf, Martin;
Vyas, Himanshu;
Lee, Serene G. P.;
Mathavan, Sinnakaruppan;
Fischer, Utz;
Sendtner, Michael;
Winkler, Christoph

Publication type:

Article