Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 19

Results: 27

Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5087, doi. 10.1093/hmg/ddu232

By:

Vincent, Stéphane D.;
Mayeuf-Louchart, Alicia;
Watanabe, Yusuke;
Brzezinski, Joseph A.;
Miyagawa-Tomita, Sachiko;
Kelly, Robert G.;
Buckingham, Margaret

Publication type:

Article

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5159, doi. 10.1093/hmg/ddu239

By:

Zurita Rendón, Olga;
Silva Neiva, Lissiene;
Sasarman, Florin;
Shoubridge, Eric A.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu465
Publication type:: Article

Disruption of myocardial Gata4 and Tbx5 results in defects in cardiomyocyte proliferation and atrioventricular septation.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5025, doi. 10.1093/hmg/ddu215

By:

Misra, Chaitali;
Chang, Sheng-Wei;
Basu, Madhumita;
Huang, Nianyuan;
Garg, Vidu

Publication type:

Article

Wide-scale alterations in interchromosomal organization in breast cancer cells: defining a network of interacting chromosomes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5133, doi. 10.1093/hmg/ddu237

By:

Fritz, Andrew J.;
Stojkovic, Branislav;
Ding, Hu;
Xu, Jinhui;
Bhattacharya, Sambit;
Gaile, Daniel;
Berezney, Ronald

Publication type:

Article

A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5123, doi. 10.1093/hmg/ddu236

By:

O'Reilly, Linda P.;
Long, Olivia S.;
Cobanoglu, Murat C.;
Benson, Joshua A.;
Luke, Cliff J.;
Miedel, Mark T.;
Hale, Pamela;
Perlmutter, David H.;
Bahar, Ivet;
Silverman, Gary A.;
Pak, Stephen C.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu466
Publication type:: Article

TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5036, doi. 10.1093/hmg/ddu216

By:

He, Fang;
Krans, Amy;
Freibaum, Brian D.;
Taylor, J. Paul;
Todd, Peter K.

Publication type:

Article

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5243, doi. 10.1093/hmg/ddu245

By:

Dehainault, Catherine;
Garancher, Alexandra;
Castéra, Laurent;
Cassoux, Nathalie;
Aerts, Isabelle;
Doz, François;
Desjardins, Laurence;
Lumbroso, Livia;
Montes de Oca, Rocío;
Almouzni, Geneviève;
Stoppa-Lyonnet, Dominique;
Pouponnot, Celio;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5147, doi. 10.1093/hmg/ddu238

By:

Ngo, Linh;
Haas, Matilda;
Qu, Zhengdong;
Li, Shan Shan;
Zenker, Jennifer;
Teng, Kathleen Sue Lyn;
Gunnersen, Jenny Margaret;
Breuss, Martin;
Habgood, Mark;
Keays, David Anthony;
Heng, Julian Ik-Tsen

Publication type:

Article

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5271, doi. 10.1093/hmg/ddu224

By:

Buchan, Jillian G.;
Alvarado, David M.;
Haller, Gabe E.;
Cruchaga, Carlos;
Harms, Matthew B.;
Zhang, Tianxiao;
Willing, Marcia C.;
Grange, Dorothy K.;
Braverman, Alan C.;
Miller, Nancy H.;
Morcuende, Jose A.;
Tang, Nelson Leung-Sang;
Lam, Tsz-Ping;
Ng, Bobby Kin-Wah;
Cheng, Jack Chun-Yiu;
Dobbs, Matthew B.;
Gurnett, Christina A.

Publication type:

Article

The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5227, doi. 10.1093/hmg/ddu244

By:

Cornelissen, Tom;
Haddad, Dominik;
Wauters, Fieke;
Van Humbeeck, Cindy;
Mandemakers, Wim;
Koentjoro, Brianada;
Sue, Carolyn;
Gevaert, Kris;
De Strooper, Bart;
Verstreken, Patrik;
Vandenberghe, Wim

Publication type:

Article

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5171, doi. 10.1093/hmg/ddu240

By:

Brewer, Megan Hwa;
Ma, Ki Hwan;
Beecham, Gary W.;
Gopinath, Chetna;
Baas, Frank;
Choi, Byung-Ok;
Reilly, Mary M.;
Shy, Michael E.;
Züchner, Stephan;
Svaren, John;
Antonellis, Anthony

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu464
Publication type:: Article

A feed-forward mechanism involving Drosophila fragile X mental retardation protein triggers a replication stress-induced DNA damage response.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5188, doi. 10.1093/hmg/ddu241

By:

Zhang, Wenxin;
Cheng, Ying;
Li, Yujing;
Chen, Zhenping;
Jin, Peng;
Chen, Dahua

Publication type:

Article

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5283, doi. 10.1093/hmg/ddu226

By:

Yu, Yi;
Triebwasser, Michael P.;
Wong, Edwin K. S.;
Schramm, Elizabeth C.;
Thomas, Brett;
Reynolds, Robyn;
Mardis, Elaine R.;
Atkinson, John P.;
Daly, Mark;
Raychaudhuri, Soumya;
Kavanagh, David;
Seddon, Johanna M.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu467
Publication type:: Article

Post-GWAS gene–environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5260, doi. 10.1093/hmg/ddu223

By:

Barrdahl, Myrto;
Canzian, Federico;
Joshi, Amit D.;
Travis, Ruth C.;
Chang-Claude, Jenny;
Auer, Paul L.;
Gapstur, Susan M.;
Gaudet, Mia;
Diver, W. Ryan;
Henderson, Brian E.;
Haiman, Christopher A.;
Schumacher, Fredrick R.;
Le Marchand, Loïc;
Berg, Christine D.;
Chanock, Stephen J.;
Hoover, Robert N.;
Rudolph, Anja;
Ziegler, Regina G.;
Giles, Graham G.;
Baglietto, Laura

Publication type:

Article

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5069, doi. 10.1093/hmg/ddu231

By:

Sirisi, Sònia;
Folgueira, Mónica;
López-Hernández, Tania;
Minieri, Laura;
Pérez-Rius, Carla;
Gaitán-Peñas, Héctor;
Zang, Jingjing;
Martínez, Albert;
Capdevila-Nortes, Xavier;
De La Villa, Pedro;
Roy, Upasana;
Alia, A.;
Neuhauss, Stephan;
Ferroni, Stefano;
Nunes, Virginia;
Estévez, Raúl;
Barrallo-Gimeno, Alejandro

Publication type:

Article

Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5061, doi. 10.1093/hmg/ddu227

By:

Wei, Wen-Hua;
Guo, Yunfei;
Kindt, Alida S.D.;
Merriman, Tony R.;
Semple, Colin A.;
Wang, Kai;
Haley, Chris S.

Publication type:

Article

In vitro screen of prion disease susceptibility genes using the scrapie cell assay.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5102, doi. 10.1093/hmg/ddu233

By:

Brown, Craig A.;
Schmidt, Christian;
Poulter, Mark;
Hummerich, Holger;
Klöhn, Peter-C.;
Jat, Parmjit;
Mead, Simon;
Collinge, John;
Lloyd, Sarah E.

Publication type:

Article

Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5211, doi. 10.1093/hmg/ddu243

By:

Shelkovnikova, Tatyana A.;
Robinson, Hannah K.;
Southcombe, Joshua A.;
Ninkina, Natalia;
Buchman, Vladimir L.

Publication type:

Article

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5197, doi. 10.1093/hmg/ddu242

By:

Karlstetter, Marcus;
Sorusch, Nasrin;
Caramoy, Albert;
Dannhausen, Katharina;
Aslanidis, Alexander;
Fauser, Sascha;
Boesl, Michael R.;
Nagel-Wolfrum, Kerstin;
Tamm, Ernst R.;
Jägle, Herbert;
Stoehr, Heidi;
Wolfrum, Uwe;
Langmann, Thomas

Publication type:

Article

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5109, doi. 10.1093/hmg/ddu235

By:

Long, Olivia S.;
Benson, Joshua A.;
Kwak, Joon Hyeok;
Luke, Cliff J.;
Gosai, Sager J.;
O'Reilly, Linda P.;
Wang, Yan;
Li, Jie;
Vetica, Anne C.;
Miedel, Mark T.;
Stolz, Donna B.;
Watkins, Simon C.;
Züchner, Stephan;
Perlmutter, David H.;
Silverman, Gary A.;
Pak, Stephen C.

Publication type:

Article

Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5294, doi. 10.1093/hmg/ddu228

By:

Li, Qiyuan;
Stram, Alexander;
Chen, Constance;
Kar, Siddhartha;
Gayther, Simon;
Pharoah, Paul;
Haiman, Christopher;
Stranger, Barbara;
Kraft, Peter;
Freedman, Matthew L.

Publication type:

Article

Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5052, doi. 10.1093/hmg/ddu217

By:

Susa, Koichiro;
Sohara, Eisei;
Rai, Tatemitsu;
Zeniya, Moko;
Mori, Yutaro;
Mori, Takayasu;
Chiga, Motoko;
Nomura, Naohiro;
Nishida, Hidenori;
Takahashi, Daiei;
Isobe, Kiyoshi;
Inoue, Yuichi;
Takeishi, Kenta;
Takeda, Naoki;
Sasaki, Sei;
Uchida, Shinichi

Publication type:

Article

Genome-wide interaction studies reveal sex-specific asthma risk alleles.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 19, p. 5251

By:

Myers, Rachel A.;
Scott, Nicole M.;
Gauderman, W. James;
Qiu, Weiliang;
Mathias, Rasika A.;
Romieu, Isabelle;
Levin, Albert M.;
Pino-Yanes, Maria;
Graves, Penelope E.;
Villarreal, Albino Barraza;
Beaty, Terri H.;
Carey, Vincent J.;
Croteau-Chonka, Damien C.;
del Rio Navarro, Blanca;
Edlund, Christopher;
Hernandez-Cadena, Leticia;
Navarro-Olivos, Efrain;
Padhukasahasram, Badri;
Salam, Muhammad T.;
Torgerson, Dara G.

Publication type:

Article