Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 26

Results: 15

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5472, doi. 10.1093/hmg/dds392

By:

Hekman, Katherine E.;
Yu, Guo-Yun;
Brown, Christopher D.;
Zhu, Haipeng;
Du, Xiaofei;
Gervin, Kristina;
Undlien, Dag Erik;
Peterson, April;
Stevanin, Giovanni;
Clark, H. Brent;
Pulst, Stefan M.;
Bird, Thomas D.;
White, Kevin P.;
Gomez, Christopher M.

Publication type:

Article

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5484, doi. 10.1093/hmg/dds393

By:

Cederquist, Gustav Y.;
Luchniak, Anna;
Tischfield, Max A.;
Peeva, Maya;
Song, Yuyu;
Menezes, Manoj P.;
Chan, Wai-Man;
Andrews, Caroline;
Chew, Sheena;
Jamieson, Robyn V.;
Gomes, Lavier;
Flaherty, Maree;
Grant, Patricia Ellen;
Gupta, Mohan L.;
Engle, Elizabeth C.

Publication type:

Article

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5397, doi. 10.1093/hmg/dds374

By:

Burnichon, Nelly;
Buffet, Alexandre;
Parfait, Béatrice;
Letouzé, Eric;
Laurendeau, Ingrid;
Loriot, Céline;
Pasmant, Eric;
Abermil, Nasséra;
Valeyrie-Allanore, Laurence;
Bertherat, Jérôme;
Amar, Laurence;
Vidaud, Dominique;
Favier, Judith;
Gimenez-Roqueplo, Anne-Paule

Publication type:

Article

The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5528, doi. 10.1093/hmg/dds408

By:

Habbig, Sandra;
Bartram, Malte P.;
Sägmüller, Josef G.;
Griessmann, Anabel;
Franke, Mareike;
Müller, Roman-Ulrich;
Schwarz, Ricarda;
Hoehne, Martin;
Bergmann, Carsten;
Tessmer, Claudia;
Reinhardt, H. Christian;
Burst, Volker;
Benzing, Thomas;
Schermer, Bernhard

Publication type:

Article

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5443, doi. 10.1093/hmg/dds390

By:

Jin, Min;
Yu, Ying;
Qi, Huabing;
Xie, Yangli;
Su, Nan;
Wang, Xiaofeng;
Tan, Qiaoyan;
Luo, Fengtao;
Zhu, Ying;
Wang, Quan;
Du, Xiaolan;
Xian, Cory J.;
Liu, Peng;
Huang, Haiyang;
Shen, Yue;
Deng, Chu-Xia;
Chen, Di;
Chen, Lin

Publication type:

Article

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5406, doi. 10.1093/hmg/dds402

By:

Welander, Jenny;
Larsson, Catharina;
Bäckdahl, Martin;
Hareni, Niyaz;
Sivlér, Tobias;
Brauckhoff, Michael;
Söderkvist, Peter;
Gimm, Oliver

Publication type:

Article

Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5456, doi. 10.1093/hmg/dds391

By:

Foy, Rebecca L.;
Chitalia, Vipul C.;
Panchenko, Maria V.;
Zeng, Liling;
Lopez, Delia;
Lee, Jean W.;
Rana, Shaunak V.;
Boletta, Alessandra;
Qian, Feng;
Tsiokas, Leonidas;
Piontek, Klaus B.;
Germino, Gregory G.;
Zhou, Mina I.;
Cohen, Herbert T.

Publication type:

Article

A novel role for doublecortin and doublecortin-like kinase in regulating growth cone microtubules.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5511, doi. 10.1093/hmg/dds395

By:

Jean, Daphney C.;
Baas, Peter W.;
Black, Mark M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds520
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds519
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds521
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds518
Publication type:: Article

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5417, doi. 10.1093/hmg/dds377

By:

Peoc'h, Katell;
Levavasseur, Etienne;
Delmont, Emilien;
De Simone, Alfonso;
Laffont-Proust, Isabelle;
Privat, Nicolas;
Chebaro, Yassmine;
Chapuis, Céline;
Bedoucha, Pierre;
Brandel, Jean-Philippe;
Laquerriere, Annie;
Kemeny, Jean-Louis;
Hauw, Jean-Jacques;
Borg, Michel;
Rezaei, Human;
Derreumaux, Philippe;
Laplanche, Jean-Louis;
Haïk, Stéphane

Publication type:

Article

A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat–Wilson syndrome phenotypes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5429, doi. 10.1093/hmg/dds389

By:

El-Kasti, Muna M.;
Wells, Timothy;
Carter, David A.

Publication type:

Article

Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 26, p. 5500, doi. 10.1093/hmg/dds394

By:

Wang, Tao;
Pan, Qian;
Lin, Li;
Szulwach, Keith E.;
Song, Chun-Xiao;
He, Chuan;
Wu, Hao;
Warren, Stephen T.;
Jin, Peng;
Duan, Ranhui;
Li, Xuekun

Publication type:

Article