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

Results: 31

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
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 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
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
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
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
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
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
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
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
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
Your data are not a product.
Published in:
2012
Publication type:
Editorial
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
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
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
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
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
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
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 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
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