Works matching IS 10614036 AND DT 2012 AND VI 44 AND IP 4

Results: 31

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091

By:

Rivière, Jean-Baptiste;
van Bon, Bregje W M;
Hoischen, Alexander;
Kholmanskikh, Stanislav S;
O'Roak, Brian J;
Gilissen, Christian;
Gijsen, Sabine;
Sullivan, Christopher T;
Christian, Susan L;
Abdul-Rahman, Omar A;
Atkin, Joan F;
Chassaing, Nicolas;
Drouin-Garraud, Valerie;
Fry, Andrew E;
Fryns, Jean-Pierre;
Gripp, Karen W;
Kempers, Marlies;
Kleefstra, Tjitske;
Mancini, Grazia M S;
Nowaczyk, Ma?gorzata J M

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. 4, p. 456, doi. 10.1038/ng.2218

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

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219

By:

Tsurusaki, Yoshinori;
Okamoto, Nobuhiko;
Ohashi, Hirofumi;
Kosho, Tomoki;
Imai, Yoko;
Hibi-Ko, Yumiko;
Kaname, Tadashi;
Naritomi, Kenji;
Kawame, Hiroshi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Homma, Tomomi;
Kato, Mitsuhiro;
Hiraki, Yoko;
Yamagata, Takanori;
Yano, Shoji;
Mizuno, Seiji;
Sakazume, Satoru;
Ishii, Takuma;
Nagai, Toshiro

Publication type:

Article

TTN mutations in cardiomyopathy.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 368, doi. 10.1038/ng.2243

By:

Vogan, Kyle

Publication type:

Article

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 381, doi. 10.1038/ng.1106

By:

Mitchison, Hannah M;
Schmidts, Miriam;
Loges, Niki T;
Freshour, Judy;
Dritsoula, Athina;
Hirst, Rob A;
O'Callaghan, Christopher;
Blau, Hannah;
Al Dabbagh, Maha;
Olbrich, Heike;
Beales, Philip L;
Yagi, Toshiki;
Mussaffi, Huda;
Chung, Eddie M K;
Omran, Heymut;
Mitchell, David R

Publication type:

Article

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217

By:

Santen, Gijs W E;
Aten, Emmelien;
Sun, Yu;
Almomani, Rowida;
Gilissen, Christian;
Nielsen, Maartje;
Kant, Sarina G;
Snoeck, Irina N;
Peeters, Els A J;
Hilhorst-Hofstee, Yvonne;
Wessels, Marja W;
den Hollander, Nicolette S;
Ruivenkamp, Claudia A L;
van Ommen, Gert-Jan B;
Breuning, Martijn H;
den Dunnen, Johan T;
van Haeringen, Arie;
Kriek, Marjolein

Publication type:

Article

Gut insulin from Foxo1 loss.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 363, doi. 10.1038/ng.2226

By:

Kim, Seung K

Publication type:

Article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Published in:

2012

By:

O'Roak, Brian J;
Deriziotis, Pelagia;
Lee, Choli;
Vives, Laura;
Schwartz, Jerrod J;
Girirajan, Santhosh;
Karakoc, Emre;
MacKenzie, Alexandra P;
Ng, Sarah B;
Baker, Carl;
Rieder, Mark J;
Nickerson, Deborah A;
Bernier, Raphael;
Fisher, Simon E;
Shendure, Jay;
Eichler, Evan E

Publication type:

Correction Notice

Tumor phylogenetics.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 368, doi. 10.1038/ng.2240

By:

Peng, Wayne

Publication type:

Article

Hematopoietic stem cell checkpoint.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 368, doi. 10.1038/ng.2241

By:

Peng, Wayne

Publication type:

Article

Generation of functional insulin-producing cells in the gut by Foxo1 ablation.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 406, doi. 10.1038/ng.2215

By:

Talchai, Chutima;
Xuan, Shouhong;
Kitamura, Tadahiro;
DePinho, Ronald A;
Accili, Domenico

Publication type:

Article

A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 461, doi. 10.1038/ng.1107

By:

Pierron, Gaëlle;
Tirode, Franck;
Lucchesi, Carlo;
Reynaud, Stéphanie;
Ballet, Stelly;
Cohen-Gogo, Sarah;
Perrin, Virginie;
Coindre, Jean-Michel;
Delattre, Olivier

Publication type:

Article

Loss-of-function variants.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 368, doi. 10.1038/ng.2242

By:

Bahcall, Orli

Publication type:

Article

Vitamin C improves the quality of somatic cell reprogramming.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 366, doi. 10.1038/ng.2222

By:

Esteban, Miguel A;
Pei, Duanqing

Publication type:

Article

Single-cell cancer exomes.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 368, doi. 10.1038/ng.2239

By:

Feliciano, Pamela

Publication type:

Article

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 369, doi. 10.1038/ng.2213

By:

Yang, Jian;
Ferreira, Teresa;
Morris, Andrew P;
Medland, Sarah E;
Madden, Pamela A F;
Heath, Andrew C;
Martin, Nicholas G;
Montgomery, Grant W;
Weedon, Michael N;
Loos, Ruth J;
Frayling, Timothy M;
McCarthy, Mark I;
Hirschhorn, Joel N;
Goddard, Michael E;
Visscher, Peter M

Publication type:

Article

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 435, doi. 10.1038/ng.1083

By:

Albers, Cornelis A;
Paul, Dirk S;
Schulze, Harald;
Freson, Kathleen;
Stephens, Jonathan C;
Smethurst, Peter A;
Jolley, Jennifer D;
Cvejic, Ana;
Kostadima, Myrto;
Bertone, Paul;
Breuning, Martijn H;
Debili, Najet;
Deloukas, Panos;
Favier, Rémi;
Fiedler, Janine;
Hobbs, Catherine M;
Huang, Ni;
Hurles, Matthew E;
Kiddle, Graham;
Krapels, Ingrid

Publication type:

Article

Your data are not a product.

Published in:: 2012
Publication type:: Editorial

A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 430, doi. 10.1038/ng.1109

By:

Tanikawa, Chizu;
Urabe, Yuji;
Matsuo, Keitaro;
Kubo, Michiaki;
Takahashi, Atsushi;
Ito, Hidemi;
Tajima, Kazuo;
Kamatani, Naoyuki;
Nakamura, Yusuke;
Matsuda, Koichi

Publication type:

Article

The role of ATM in response to metformin treatment and activation of AMPK.

Published in:

2012

By:

Yee, Sook Wah;
Chen, Ligong;
Giacomini, Kathleen M

Publication type:

Letter

Ascorbic acid prevents loss of Dlk1-Dio3 imprinting and facilitates generation of all-iPS cell mice from terminally differentiated B cells.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 398, doi. 10.1038/ng.1110

By:

Stadtfeld, Matthias;
Apostolou, Effie;
Ferrari, Francesco;
Choi, Jiho;
Walsh, Ryan M;
Chen, Taiping;
Ooi, Steen S K;
Kim, Sang Yong;
Bestor, Timothy H;
Shioda, Toshi;
Park, Peter J;
Hochedlinger, Konrad

Publication type:

Article

Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 420, doi. 10.1038/ng.2204

By:

Schödel, Johannes;
Bardella, Chiara;
Sciesielski, Lina K;
Brown, Jill M;
Pugh, Chris W;
Buckle, Veronica;
Tomlinson, Ian P;
Ratcliffe, Peter J;
Mole, David R

Publication type:

Article

Whole-genome analysis of diverse Chlamydia trachomatis strains identifies phylogenetic relationships masked by current clinical typing.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 413, doi. 10.1038/ng.2214

By:

Harris, Simon R;
Clarke, Ian N;
Seth-Smith, Helena M B;
Solomon, Anthony W;
Cutcliffe, Lesley T;
Marsh, Peter;
Skilton, Rachel J;
Holland, Martin J;
Mabey, David;
Peeling, Rosanna W;
Lewis, David A;
Spratt, Brian G;
Unemo, Magnus;
Persson, Kenneth;
Bjartling, Carina;
Brunham, Robert;
de Vries, Henry J C;
Morré, Servaas A;
Speksnijder, Arjen;
Bébéar, Cécile M

Publication type:

Article

Reverse breeding in Arabidopsis thaliana generates homozygous parental lines from a heterozygous plant.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 467, doi. 10.1038/ng.2203

By:

Wijnker, Erik;
van Dun, Kees;
de Snoo, C Bastiaan;
Lelivelt, Cilia L C;
Keurentjes, Joost J B;
Naharudin, Nazatul Shima;
Ravi, Maruthachalam;
Chan, Simon W L;
de Jong, Hans;
Dirks, Rob

Publication type:

Article

Genome-wide recombination in Chlamydia trachomatis.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 364, doi. 10.1038/ng.2225

By:

Joseph, Sandeep J;
Read, Timothy D

Publication type:

Article

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 390, doi. 10.1038/ng.2202

By:

Chiang, Colby;
Jacobsen, Jessie C;
Ernst, Carl;
Hanscom, Carrie;
Heilbut, Adrian;
Blumenthal, Ian;
Mills, Ryan E;
Kirby, Andrew;
Lindgren, Amelia M;
Rudiger, Skye R;
McLaughlan, Clive J;
Bawden, C Simon;
Reid, Suzanne J;
Faull, Richard L M;
Snell, Russell G;
Hall, Ira M;
Shen, Yiping;
Ohsumi, Toshiro K;
Borowsky, Mark L;
Daly, Mark J

Publication type:

Article

Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 426, doi. 10.1038/ng.1104

By:

Akamatsu, Shusuke;
Takata, Ryo;
Haiman, Christopher A;
Takahashi, Atsushi;
Inoue, Takahiro;
Kubo, Michiaki;
Furihata, Mutsuo;
Kamatani, Naoyuki;
Inazawa, Johji;
Chen, Gary K;
Le Marchand, Loïc;
Kolonel, Laurence N;
Katoh, Takahiko;
Yamano, Yuko;
Yamakado, Minoru;
Takahashi, Hiroyuki;
Yamada, Hiroki;
Egawa, Shin;
Fujioka, Tomoaki;
Henderson, Brian E

Publication type:

Article

Zhou et al. reply.

Published in:

2012

By:

Zhou, Kaixin;
Bellenguez, Celine;
Sutherland, Calum;
Hardie, Grahame;
Palmer, Colin;
Donnelly, Peter;
Pearson, Ewan

Publication type:

Letter

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103

By:

Sarparanta, Jaakko;
Jonson, Per Harald;
Golzio, Christelle;
Sandell, Satu;
Luque, Helena;
Screen, Mark;
McDonald, Kristin;
Stajich, Jeffrey M;
Mahjneh, Ibrahim;
Vihola, Anna;
Raheem, Olayinka;
Penttilä, Sini;
Lehtinen, Sara;
Huovinen, Sanna;
Palmio, Johanna;
Tasca, Giorgio;
Ricci, Enzo;
Hackman, Peter;
Hauser, Michael;
Katsanis, Nicholas

Publication type:

Article

To the Editor.

Published in:

2012

By:

Woods, Angela;
Leiper, James M;
Carling, David

Publication type:

Letter

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105

By:

Van Houdt, Jeroen K J;
Nowakowska, Beata Anna;
Sousa, Sérgio B;
van Schaik, Barbera D C;
Seuntjens, Eve;
Avonce, Nelson;
Sifrim, Alejandro;
Abdul-Rahman, Omar A;
van den Boogaard, Marie-José H;
Bottani, Armand;
Castori, Marco;
Cormier-Daire, Valérie;
Deardorff, Matthew A;
Filges, Isabel;
Fryer, Alan;
Fryns, Jean-Pierre;
Gana, Simone;
Garavelli, Livia;
Gillessen-Kaesbach, Gabriele;
Hall, Bryan D

Publication type:

Article