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

Results: 27

Editorial Board.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu466
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
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
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 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
Contents Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu464
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
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
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
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
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
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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu467
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
Cover Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 19, p. NP, doi. 10.1093/hmg/ddu465
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
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
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
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