Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 13

Results: 26

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3566, doi. 10.1093/hmg/ddu067

By:

Smith, Laura L.;
Gupta, Vandana A.;
Beggs, Alan H.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu294
Publication type:: Article

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3445, doi. 10.1093/hmg/ddu053

By:

Yang, Jin;
Li, Yao;
Chan, Lawrence;
Tsai, Yi-Ting;
Wu, Wen-Hsuan;
Nguyen, Huy V.;
Hsu, Chun-Wei;
Li, Xiaorong;
Brown, Lewis M.;
Egli, Dieter;
Sparrow, Janet R.;
Tsang, Stephen H.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu295
Publication type:: Article

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054

By:

Reiff, Rachel E.;
Ali, Bassam R.;
Baron, Byron;
Yu, Timothy W.;
Ben-Salem, Salma;
Coulter, Michael E.;
Schubert, Christian R.;
Hill, R. Sean;
Akawi, Nadia A.;
Al-Younes, Banan;
Kaya, Namik;
Evrony, Gilad D.;
Al-Saffar, Muna;
Felie, Jillian M.;
Partlow, Jennifer N.;
Sunu, Christine M.;
Schembri-Wismayer, Pierre;
Alkuraya, Fowzan S.;
Meyer, Brian F.;
Walsh, Christopher A.

Publication type:

Article

Identification of ter94, Drosophila VCP, as a strong modulator of motor neuron degeneration induced by knockdown of Caz, Drosophila FUS.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3467, doi. 10.1093/hmg/ddu055

By:

Azuma, Yumiko;
Tokuda, Takahiko;
Shimamura, Mai;
Kyotani, Akane;
Sasayama, Hiroshi;
Yoshida, Tomokatsu;
Mizuta, Ikuko;
Mizuno, Toshiki;
Nakagawa, Masanori;
Fujikake, Nobuhiro;
Ueyama, Morio;
Nagai, Yoshitaka;
Yamaguchi, Masamitsu

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu292
Publication type:: Article

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3362

By:

Onoufriadis, Alexandros;
Shoemark, Amelia;
Schmidts, Miriam;
Patel, Mitali;
Jimenez, Gina;
Liu, Hui;
Thomas, Biju;
Dixon, Mellisa;
Hirst, Robert A.;
Rutman, Andrew;
Burgoyne, Thomas;
Williams, Christopher;
Scully, Juliet;
Bolard, Florence;
Lafitte, Jean-Jacques;
Beales, Philip L.;
Hogg, Claire;
Yang, Pinfen;
Chung, Eddie M.K.;
Emes, Richard D.

Publication type:

Article

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3375, doi. 10.1093/hmg/ddu047

By:

Morton, A. Jennifer;
Rudiger, Skye R.;
Wood, Nigel I.;
Sawiak, Stephen J.;
Brown, Gregory C.;
Mclaughlan, Clive J.;
Kuchel, Timothy R.;
Snell, Russell G.;
Faull, Richard L.M.;
Bawden, C. Simon

Publication type:

Article

STAG3 is a strong candidate gene for male infertility.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3421, doi. 10.1093/hmg/ddu051

By:

Llano, Elena;
Gomez-H, Laura;
García-Tuñón, Ignacio;
Sánchez-Martín, Manuel;
Caburet, Sandrine;
Barbero, Jose Luis;
Schimenti, John C.;
Veitia, Reiner A.;
Pendas, Alberto M.

Publication type:

Article

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056

By:

Lee, Hane;
Lin, Meng-chin A.;
Kornblum, Harley I.;
Papazian, Diane M.;
Nelson, Stanley F.

Publication type:

Article

Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3490, doi. 10.1093/hmg/ddu057

By:

Clipperton-Allen, Amy E.;
Page, Damon T.

Publication type:

Article

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3618, doi. 10.1093/hmg/ddu072

By:

Deutschmann, Andrea J.;
Amberger, Albert;
Zavadil, Claudia;
Steinbeisser, Herbert;
Mayr, Johannes A.;
Feichtinger, René G.;
Oerum, Stephanie;
Yue, Wyatt W.;
Zschocke, Johannes

Publication type:

Article

Paeoniflorin eliminates a mutant AR via NF-YA-dependent proteolysis in spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3552, doi. 10.1093/hmg/ddu066

By:

Tohnai, Genki;
Adachi, Hiroaki;
Katsuno, Masahisa;
Doi, Hideki;
Matsumoto, Shinjiro;
Kondo, Naohide;
Miyazaki, Yu;
Iida, Madoka;
Nakatsuji, Hideaki;
Qiang, Qiang;
Ding, Ying;
Watanabe, Hirohisa;
Yamamoto, Masahiko;
Ohtsuka, Kenzo;
Sobue, Gen

Publication type:

Article

Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3384, doi. 10.1093/hmg/ddu048

By:

Alves, Celso Henrique;
Pellissier, Lucie P.;
Vos, Rogier M.;
Garcia Garrido, Marina;
Sothilingam, Vithiyanjali;
Seide, Christina;
Beck, Susanne C.;
Klooster, Jan;
Furukawa, Takahisa;
Flannery, John G.;
Verhaagen, Joost;
Seeliger, Mathias W.;
Wijnholds, Jan

Publication type:

Article

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3432, doi. 10.1093/hmg/ddu052

By:

Bowerman, Melissa;
Michalski, John-Paul;
Beauvais, Ariane;
Murray, Lyndsay M.;
DeRepentigny, Yves;
Kothary, Rashmi

Publication type:

Article

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3506, doi. 10.1093/hmg/ddu058

By:

Valle, Laura;
Hernández-Illán, Eva;
Bellido, Fernando;
Aiza, Gemma;
Castillejo, Adela;
Castillejo, María-Isabel;
Navarro, Matilde;
Seguí, Nuria;
Vargas, Gardenia;
Guarinos, Carla;
Juarez, Miriam;
Sanjuán, Xavier;
Iglesias, Silvia;
Alenda, Cristina;
Egoavil, Cecilia;
Segura, Ángel;
Juan, María-José;
Rodriguez-Soler, María;
Brunet, Joan;
González, Sara

Publication type:

Article

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3596, doi. 10.1093/hmg/ddu069

By:

Ghosh, Alok;
Trivedi, Prachi P.;
Timbalia, Shrishiv A.;
Griffin, Aaron T.;
Rahn, Jennifer J.;
Chan, Sherine S. L.;
Gohil, Vishal M.

Publication type:

Article

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3607, doi. 10.1093/hmg/ddu070

By:

Magini, Pamela;
Pippucci, Tommaso;
Tsai, I-Chun;
Coppola, Simona;
Stellacci, Emilia;
Bartoletti-Stella, Anna;
Turchetti, Daniela;
Graziano, Claudio;
Cenacchi, Giovanna;
Neri, Iria;
Cordelli, Duccio Maria;
Marchiani, Valentina;
Bergamaschi, Rosalba;
Gasparre, Giuseppe;
Neri, Giovanni;
Mazzanti, Laura;
Patrizi, Annalisa;
Franzoni, Emilio;
Romeo, Giovanni;
Bordo, Domenico

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 13, p. NP, doi. 10.1093/hmg/ddu293
Publication type:: Article

Inherited mitochondrial DNA variants can affect complement, inflammation and apoptosis pathways: insights into mitochondrial–nuclear interactions.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3537, doi. 10.1093/hmg/ddu065

By:

Cristina Kenney, M.;
Chwa, Marilyn;
Atilano, Shari R.;
Falatoonzadeh, Payam;
Ramirez, Claudio;
Malik, Deepika;
Tarek, Mohamed;
Cáceres-del-Carpio, Javier;
Nesburn, Anthony B.;
Boyer, David S.;
Kuppermann, Baruch D.;
Vawter, Marquis;
Michal Jazwinski, S.;
Miceli, Michael;
Wallace, Douglas C.;
Udar, Nitin

Publication type:

Article

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3513, doi. 10.1093/hmg/ddu059

By:

Pougovkina, Olga;
te Brinke, Heleen;
Ofman, Rob;
van Cruchten, Arno G.;
Kulik, Wim;
Wanders, Ronald J.A.;
Houten, Sander M.;
de Boer, Vincent C.J.

Publication type:

Article

Gne depletion during zebrafish development impairs skeletal muscle structure and function.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3349, doi. 10.1093/hmg/ddu045

By:

Daya, Alon;
Vatine, Gad David;
Becker-Cohen, Michal;
Tal-Goldberg, Tzukit;
Friedmann, Adam;
Gothilf, Yoav;
Du, Shao Jun;
Mitrani-Rosenbaum, Stella

Publication type:

Article

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3579, doi. 10.1093/hmg/ddu068

By:

Farg, Manal A.;
Sundaramoorthy, Vinod;
Sultana, Jessica M.;
Yang, Shu;
Atkinson, Rachel A.K.;
Levina, Vita;
Halloran, Mark A.;
Gleeson, Paul A.;
Blair, Ian P.;
Soo, Kai Y.;
King, Anna E.;
Atkin, Julie D.

Publication type:

Article

Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3402, doi. 10.1093/hmg/ddu049

By:

Pelassa, Ilaria;
Corà, Davide;
Cesano, Federico;
Monje, Francisco J.;
Montarolo, Pier Giorgio;
Fiumara, Ferdinando

Publication type:

Article

The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 13, p. 3523, doi. 10.1093/hmg/ddu064

By:

Muratore, Christina R.;
Rice, Heather C.;
Srikanth, Priya;
Callahan, Dana G.;
Shin, Taehwan;
Benjamin, Lawrence N. P.;
Walsh, Dominic M.;
Selkoe, Dennis J.;
Young-Pearse, Tracy L.

Publication type:

Article