Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 5

Results: 23

A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 941, doi. 10.1093/hmg/ddq539

By:

Paquet-Durand, François;
Beck, Susanne;
Michalakis, Stylianos;
Goldmann, Tobias;
Huber, Gesine;
Mühlfriedel, Regine;
Trifunović, Dragana;
Fischer, M. Dominik;
Fahl, Edda;
Duetsch, Gabriele;
Becirovic, Elvir;
Wolfrum, Uwe;
van Veen, Theo;
Biel, Martin;
Tanimoto, Naoyuki;
Seeliger, Mathias W.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr010
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr012
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr009
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 5, p. NP, doi. 10.1093/hmg/ddr011
Publication type:: Article

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 948, doi. 10.1093/hmg/ddq541

By:

Chen, I-Ping;
Wang, Liping;
Jiang, Xi;
Aguila, Hector Leonardo;
Reichenberger, Ernst J.

Publication type:

Article

Bioenergetics of neurons inhibit the translocation response of Parkin following rapid mitochondrial depolarization.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 927, doi. 10.1093/hmg/ddq531

By:

Van Laar, Victor S.;
Arnold, Beth;
Cassady, Steven J.;
Chu, Charleen T.;
Burton, Edward A.;
Berman, Sarah B.

Publication type:

Article

Downregulation of NCC and NKCC2 cotransporters by kidney-specific WNK1 revealed by gene disruption and transgenic mouse models.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 855, doi. 10.1093/hmg/ddq525

By:

Liu, Zhen;
Xie, Jian;
Wu, Tao;
Truong, Thao;
Auchus, Richard J.;
Huang, Chou-Long

Publication type:

Article

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 975, doi. 10.1093/hmg/ddq543

By:

Chakarova, Christina F.;
Khanna, Hemant;
Shah, Amna Z.;
Patil, Suresh B.;
Sedmak, Tina;
Murga-Zamalloa, Carlos A.;
Papaioannou, Myrto G.;
Nagel-Wolfrum, Kerstin;
Lopez, Irma;
Munro, Peter;
Cheetham, Michael;
Koenekoop, Robert K.;
Rios, Rosa M.;
Matter, Karl;
Wolfrum, Uwe;
Swaroop, Anand;
Bhattacharya, Shomi S.

Publication type:

Article

Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 905, doi. 10.1093/hmg/ddq529

By:

Chapman, Gavin;
Sparrow, Duncan B.;
Kremmer, Elisabeth;
Dunwoodie, Sally L.

Publication type:

Article

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 867, doi. 10.1093/hmg/ddq526

By:

Deas, Emma;
Plun-Favreau, Helene;
Gandhi, Sonia;
Desmond, Howard;
Kjaer, Svend;
Loh, Samantha H.Y.;
Renton, Alan E.M.;
Harvey, Robert J.;
Whitworth, Alexander J.;
Martins, L. Miguel;
Abramov, Andrey Y.;
Wood, Nicholas W.

Publication type:

Article

Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1034, doi. 10.1093/hmg/ddq537

By:

Ozeki, Takeshi;
Mushiroda, Taisei;
Yowang, Amara;
Takahashi, Atsushi;
Kubo, Michiaki;
Shirakata, Yuji;
Ikezawa, Zenro;
Iijima, Masafumi;
Shiohara, Tetsuo;
Hashimoto, Koji;
Kamatani, Naoyuki;
Nakamura, Yusuke

Publication type:

Article

Amniocytes can serve a dual function as a source of iPS cells and feeder layers.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 962, doi. 10.1093/hmg/ddq542

By:

Anchan, Raymond M.;
Quaas, Philipp;
Gerami-Naini, Behzad;
Bartake, Hrishikesh;
Griffin, Adam;
Zhou, Yilan;
Day, Daniel;
Eaton, Jennifer L.;
George, Liji L.;
Naber, Catherine;
Turbe-Doan, Annick;
Park, Peter J.;
Hornstein, Mark D.;
Maas, Richard L.

Publication type:

Article

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 988, doi. 10.1093/hmg/ddq544

By:

Tokuda, Satoko;
Mahaffey, Connie L.;
Monks, Bobby;
Faulkner, Christian R.;
Birnbaum, Morris J.;
Danzer, Steve C.;
Frankel, Wayne N.

Publication type:

Article

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 917, doi. 10.1093/hmg/ddq530

By:

Berry, Rachel;
Harewood, Louise;
Pei, Liming;
Fisher, Malcolm;
Brownstein, David;
Ross, Allyson;
Alaynick, William A.;
Moss, Julie;
Hastie, Nicholas D.;
Hohenstein, Peter;
Davies, Jamie A.;
Evans, Ronald M.;
FitzPatrick, David R.

Publication type:

Article

The unfolded protein response in familial amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1008, doi. 10.1093/hmg/ddq546

By:

Wang, Lijun;
Popko, Brian;
Roos, Raymond P.

Publication type:

Article

Dense mapping of IL18 shows no association in SLE.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1026, doi. 10.1093/hmg/ddq536

By:

Guerra, Sandra G.;
Morris, David L.;
Gateva, Vesela;
Graham, Robert R.;
Vyse, Timothy J.;
Cunninghame Graham, Deborah S.

Publication type:

Article

SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 894, doi. 10.1093/hmg/ddq528

By:

Goldstein, Jeffery A.;
Kelly, Sean M.;
LoPresti, Peter P.;
Heydemann, Ahlke;
Earley, Judy U.;
Ferguson, Edwin L.;
Wolf, Matthew J.;
McNally, Elizabeth M.

Publication type:

Article

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1042, doi. 10.1093/hmg/ddq538

By:

Oexle, Konrad;
Ried, Janina S.;
Hicks, Andrew A.;
Tanaka, Toshiko;
Hayward, Caroline;
Bruegel, Mathias;
Gögele, Martin;
Lichtner, Peter;
Müller-Myhsok, Bertram;
Döring, Angela;
Illig, Thomas;
Schwienbacher, Christine;
Minelli, Cosetta;
Pichler, Irene;
Fiedler, G. Martin;
Thiery, Joachim;
Rudan, Igor;
Wright, Alan F.;
Campbell, Harry;
Ferrucci, Luigi

Publication type:

Article

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 880, doi. 10.1093/hmg/ddq527

By:

Shaikh, Tamim H.;
Haldeman-Englert, Chad;
Geiger, Elizabeth A.;
Ponting, Chris P.;
Webber, Caleb

Publication type:

Article

Secretin deficiency causes impairment in survival of neural progenitor cells in mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1000, doi. 10.1093/hmg/ddq545

By:

Jukkola, Peter I.;
Rogers, Justin T.;
Kaspar, Brian K.;
Weeber, Edwin J.;
Nishijima, Ichiko

Publication type:

Article

MSX1 and TGF-β3 are novel target genes functionally regulated by FOXE1.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1016, doi. 10.1093/hmg/ddq547

By:

Venza, Isabella;
Visalli, Maria;
Parrillo, Luca;
De Felice, Mario;
Teti, Diana;
Venza, Mario

Publication type:

Article

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 5, p. 1048, doi. 10.1093/hmg/ddq540

By:

Garcia-Barceló, Maria-Mercè;
Yeung, Ming-Yiu;
Miao, Xiao-Ping;
Tang, Clara Sze-Man;
Cheng, Guo;
So, Man-Ting;
Ngan, EllySau-Wai;
Lui, Vincent Chi-Hang;
Chen, Yan;
Liu, Xue-Lai;
Hui, Kenneth-Jeremy W.S.;
Li, Long;
Guo, Wei-Hong;
Sun, Xiao-Bin;
Tou, Jin-Fa;
Chan, Kin-Wai;
Wu, Xuan-Zhao;
Song, You-Qiang;
Chan, Danny;
Cheung, Kenneth

Publication type:

Article