Works matching IS 10614036 AND DT 2012 AND VI 44 AND IP 5

Results: 30

Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 477, doi. 10.1038/ng.2255

By:

Cleaver, James E

Publication type:

Article

Identification of common variants associated with human hippocampal and intracranial volumes.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 552, doi. 10.1038/ng.2250

By:

Stein, Jason L;
Medland, Sarah E;
Vasquez, Alejandro Arias;
Hibar, Derrek P;
Senstad, Rudy E;
Winkler, Anderson M;
Toro, Roberto;
Appel, Katja;
Bartecek, Richard;
Bergmann, Ørjan;
Bernard, Manon;
Brown, Andrew A;
Cannon, Dara M;
Chakravarty, M Mallar;
Christoforou, Andrea;
Domin, Martin;
Grimm, Oliver;
Hollinshead, Marisa;
Holmes, Avram J;
Homuth, Georg

Publication type:

Article

Common variants at 6q22 and 17q21 are associated with intracranial volume.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 539, doi. 10.1038/ng.2245

By:

Ikram, M Arfan;
Fornage, Myriam;
Smith, Albert V;
Seshadri, Sudha;
Schmidt, Reinhold;
Debette, Stéphanie;
Vrooman, Henri A;
Sigurdsson, Sigurdur;
Ropele, Stefan;
Taal, H Rob;
Mook-Kanamori, Dennis O;
Coker, Laura H;
Longstreth, W T;
Niessen, Wiro J;
DeStefano, Anita L;
Beiser, Alexa;
Zijdenbos, Alex P;
Struchalin, Maksim;
Jack, Clifford R;
Rivadeneira, Fernando

Publication type:

Article

Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 522, doi. 10.1038/ng.2227

By:

Lee, Yi-Ching;
Kuo, Ho-Chang;
Chang, Jeng-Sheng;
Chang, Luan-Yin;
Huang, Li-Min;
Chen, Ming-Ren;
Liang, Chi-Di;
Chi, Hsin;
Huang, Fu-Yuan;
Lee, Meng-Luen;
Huang, Yhu-Chering;
Hwang, Betau;
Chiu, Nan-Chang;
Hwang, Kao-Pin;
Lee, Pi-Chang;
Chang, Li-Ching;
Liu, Yi-Min;
Chen, Ying-Ju;
Chen, Chien-Hsiun;
Alliance, Taiwan Pediatric ID

Publication type:

Article

Germline RAD51C mutations confer susceptibility to ovarian cancer.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 476, doi. 10.1038/ng.2223

By:

Meindl, Alfons;
Eirich, Katharina;
Engert, Stefanie;
Becker, Alexandra;
Endt, Daniela;
Ditsch, Nina;
Schmutzler, Rita K;
Schindler, Detlev

Publication type:

Article

UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230

By:

Schwertman, Petra;
Lagarou, Anna;
Dekkers, Dick H W;
Raams, Anja;
van der Hoek, Adriana C;
Laffeber, Charlie;
Hoeijmakers, Jan H J;
Demmers, Jeroen A A;
Fousteri, Maria;
Vermeulen, Wim;
Marteijn, Jurgen A

Publication type:

Article

Cell type-specific eQTLs in the human immune system.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 478, doi. 10.1038/ng.2258

By:

Gregersen, Peter K

Publication type:

Article

Common variants at 12q15 and 12q24 are associated with infant head circumference.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 532, doi. 10.1038/ng.2238

By:

Taal, H Rob;
St Pourcain, Beate;
Thiering, Elisabeth;
Das, Shikta;
Mook-Kanamori, Dennis O;
Warrington, Nicole M;
Kaakinen, Marika;
Kreiner-Møller, Eskil;
Bradfield, Jonathan P;
Freathy, Rachel M;
Geller, Frank;
Guxens, Mònica;
Cousminer, Diana L;
Kerkhof, Marjan;
Timpson, Nicholas J;
Ikram, M Arfan;
Beilin, Lawrence J;
Bønnelykke, Klaus;
Buxton, Jessica L;
Charoen, Pimphen

Publication type:

Article

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 483, doi. 10.1038/ng.2232

By:

Stahl, Eli A;
Wegmann, Daniel;
Trynka, Gosia;
Gutierrez-Achury, Javier;
Do, Ron;
Voight, Benjamin F;
Kraft, Peter;
Chen, Robert;
Kallberg, Henrik J;
Kurreeman, Fina A S;
Kathiresan, Sekar;
Wijmenga, Cisca;
Gregersen, Peter K;
Alfredsson, Lars;
Siminovitch, Katherine A;
Worthington, Jane;
de Bakker, Paul I W;
Raychaudhuri, Soumya;
Plenge, Robert M

Publication type:

Article

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 586, doi. 10.1038/ng.2229

By:

Nakazawa, Yuka;
Sasaki, Kensaku;
Mitsutake, Norisato;
Matsuse, Michiko;
Shimada, Mayuko;
Nardo, Tiziana;
Takahashi, Yoshito;
Ohyama, Kaname;
Ito, Kosei;
Mishima, Hiroyuki;
Nomura, Masayo;
Kinoshita, Akira;
Ono, Shinji;
Takenaka, Katsuya;
Masuyama, Ritsuko;
Kudo, Takashi;
Slor, Hanoch;
Utani, Atsushi;
Tateishi, Satoshi;
Yamashita, Shunichi

Publication type:

Article

Familial diarrhea syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2266

By:

Vogan, Kyle

Publication type:

Article

Straightforward recessive BBS.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2267

By:

Axton, Myles

Publication type:

Article

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252

By:

Willer, Tobias;
Lee, Hane;
Lommel, Mark;
Yoshida-Moriguchi, Takako;
de Bernabe, Daniel Beltran Valero;
Venzke, David;
Cirak, Sebahattin;
Schachter, Harry;
Vajsar, Jiri;
Voit, Thomas;
Muntoni, Francesco;
Loder, Andrea S;
Dobyns, William B;
Winder, Thomas L;
Strahl, Sabine;
Mathews, Katherine D;
Nelson, Stanley F;
Moore, Steven A;
Campbell, Kevin P

Publication type:

Article

Chimpanzee genetic map.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2269

By:

Bahcall, Orli

Publication type:

Article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 491, doi. 10.1038/ng.2249

By:

Estrada, Karol;
Styrkarsdottir, Unnur;
Evangelou, Evangelos;
Hsu, Yi-Hsiang;
Duncan, Emma L;
Ntzani, Evangelia E;
Oei, Ling;
Albagha, Omar M E;
Amin, Najaf;
Kemp, John P;
Koller, Daniel L;
Li, Guo;
Liu, Ching-Ti;
Minster, Ryan L;
Moayyeri, Alireza;
Vandenput, Liesbeth;
Willner, Dana;
Xiao, Su-Mei;
Yerges-Armstrong, Laura M;
Zheng, Hou-Feng

Publication type:

Article

Testing times.

Published in:: Nature Genetics, 2012, v. 44, n. 5, p. 473, doi. 10.1038/ng.2264
Publication type:: Article

Bayesian method to predict individual SNP genotypes from gene expression data.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 603, doi. 10.1038/ng.2248

By:

Schadt, Eric E;
Woo, Sangsoon;
Hao, Ke

Publication type:

Article

Common variants at 12q14 and 12q24 are associated with hippocampal volume.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 545, doi. 10.1038/ng.2237

By:

Bis, Joshua C;
DeCarli, Charles;
Smith, Albert Vernon;
van der Lijn, Fedde;
Crivello, Fabrice;
Fornage, Myriam;
Debette, Stephanie;
Shulman, Joshua M;
Schmidt, Helena;
Srikanth, Velandai;
Schuur, Maaike;
Yu, Lei;
Choi, Seung-Hoan;
Sigurdsson, Sigurdur;
Verhaaren, Benjamin F J;
DeStefano, Anita L;
Lambert, Jean-Charles;
Jack, Clifford R;
Struchalin, Maksim;
Stankovich, Jim

Publication type:

Article

Interpretation of regulatory polymorphism.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2268

By:

Niemitz, Emily

Publication type:

Article

A genome-wide association study identifies three new risk loci for Kawasaki disease.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 517, doi. 10.1038/ng.2220

By:

Onouchi, Yoshihiro;
Ozaki, Kouichi;
Burns, Jane C;
Shimizu, Chisato;
Terai, Masaru;
Hamada, Hiromichi;
Honda, Takafumi;
Suzuki, Hiroyuki;
Suenaga, Tomohiro;
Takeuchi, Takashi;
Yoshikawa, Norishige;
Suzuki, Yoichi;
Yasukawa, Kumi;
Ebata, Ryota;
Higashi, Kouji;
Saji, Tsutomu;
Kemmotsu, Yasushi;
Takatsuki, Shinichi;
Ouchi, Kazunobu;
Kishi, Fumio

Publication type:

Article

Super-PTEN mice.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2265

By:

Feliciano, Pamela

Publication type:

Article

A genome-wide association meta-analysis identifies new childhood obesity loci.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 526, doi. 10.1038/ng.2247

By:

Bradfield, Jonathan P;
Taal, H Rob;
Timpson, Nicholas J;
Scherag, André;
Lecoeur, Cecile;
Warrington, Nicole M;
Hypponen, Elina;
Holst, Claus;
Valcarcel, Beatriz;
Thiering, Elisabeth;
Salem, Rany M;
Schumacher, Fredrick R;
Cousminer, Diana L;
Sleiman, Patrick M A;
Zhao, Jianhua;
Berkowitz, Robert I;
Vimaleswaran, Karani S;
Jarick, Ivonne;
Pennell, Craig E;
Evans, David M

Publication type:

Article

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 593, doi. 10.1038/ng.2228

By:

Zhang, Xue;
Horibata, Katsuyoshi;
Saijo, Masafumi;
Ishigami, Chie;
Ukai, Akiko;
Kanno, Shin-ichiro;
Tahara, Hidetoshi;
Neilan, Edward G;
Honma, Masamitsu;
Nohmi, Takehiko;
Yasui, Akira;
Tanaka, Kiyoji

Publication type:

Article

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 609, doi. 10.1038/ng0512-609

By:

Louis-Dit-Picard, Hélène;
Barc, Julien;
Trujillano, Daniel;
Miserey-Lenkei, Stéphanie;
Bouatia-Naji, Nabila;
Pylypenko, Olena;
Beaurain, Geneviève;
Bonnefond, Amélie;
Sand, Olivier;
Simian, Christophe;
Vidal-Petiot, Emmanuelle;
Soukaseum, Christelle;
Mandet, Chantal;
Broux, Françoise;
Chabre, Olivier;
Delahousse, Michel;
Esnault, Vincent;
Fiquet, Béatrice;
Houillier, Pascal;
Bagnis, Corinne Isnard

Publication type:

Article

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 502, doi. 10.1038/ng.2205

By:

Fairfax, Benjamin P;
Makino, Seiko;
Radhakrishnan, Jayachandran;
Plant, Katharine;
Leslie, Stephen;
Dilthey, Alexander;
Ellis, Peter;
Langford, Cordelia;
Vannberg, Fredrik O;
Knight, Julian C

Publication type:

Article

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 511, doi. 10.1038/ng.2231

By:

Okada, Yukinori;
Terao, Chikashi;
Ikari, Katsunori;
Kochi, Yuta;
Ohmura, Koichiro;
Suzuki, Akari;
Kawaguchi, Takahisa;
Stahl, Eli A;
Kurreeman, Fina A S;
Nishida, Nao;
Ohmiya, Hiroko;
Myouzen, Keiko;
Takahashi, Meiko;
Sawada, Tetsuji;
Nishioka, Yuichi;
Yukioka, Masao;
Matsubara, Tsukasa;
Wakitani, Shigeyuki;
Teshima, Ryota;
Tohma, Shigeto

Publication type:

Article

Germline RAD51C mutations confer susceptibility to ovarian cancer.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224

By:

Loveday, Chey;
Turnbull, Clare;
Ruark, Elise;
Xicola, Rosa Maria Munoz;
Ramsay, Emma;
Hughes, Deborah;
Warren-Perry, Margaret;
Snape, Katie;
Eccles, Diana;
Evans, D Gareth;
Gore, Martin;
Renwick, Anthony;
Seal, Sheila;
Antoniou, Antonis C;
Rahman, Nazneen

Publication type:

Article

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 562, doi. 10.1038/ng.2221

By:

Sun, Lei;
Rommens, Johanna M;
Corvol, Harriet;
Li, Weili;
Li, Xin;
Chiang, Theodore A;
Lin, Fan;
Dorfman, Ruslan;
Busson, Pierre-François;
Parekh, Rashmi V;
Zelenika, Diana;
Blackman, Scott M;
Corey, Mary;
Doshi, Vishal K;
Henderson, Lindsay;
Naughton, Kathleen M;
O'Neal, Wanda K;
Pace, Rhonda G;
Stonebraker, Jaclyn R;
Wood, Sally D

Publication type:

Article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253

By:

Roscioli, Tony;
Kamsteeg, Erik-Jan;
Buysse, Karen;
Maystadt, Isabelle;
van Reeuwijk, Jeroen;
van den Elzen, Christa;
van Beusekom, Ellen;
Riemersma, Moniek;
Pfundt, Rolph;
Vissers, Lisenka E L M;
Schraders, Margit;
Altunoglu, Umut;
Buckley, Michael F;
Brunner, Han G;
Grisart, Bernard;
Zhou, Huiqing;
Veltman, Joris A;
Gilissen, Christian;
Mancini, Grazia M S;
Delrée, Paul

Publication type:

Article

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes.

Published in:

Nature Genetics, 2012, v. 44, n. 5, p. 570, doi. 10.1038/ng.2246

By:

Zang, Zhi Jiang;
Cutcutache, Ioana;
Poon, Song Ling;
Zhang, Shen Li;
McPherson, John R;
Tao, Jiong;
Rajasegaran, Vikneswari;
Heng, Hong Lee;
Deng, Niantao;
Gan, Anna;
Lim, Kiat Hon;
Ong, Choon Kiat;
Huang, DaChuan;
Chin, Sze Yung;
Tan, Iain Beehuat;
Ng, Cedric Chuan Young;
Yu, Willie;
Wu, Yingting;
Lee, Minghui;
Wu, Jeanie

Publication type:

Article