Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 19

Results: 23

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds329
Publication type:: Article

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123

By:

Timal, Sharita;
Hoischen, Alexander;
Lehle, Ludwig;
Adamowicz, Maciej;
Huijben, Karin;
Sykut-Cegielska, Jolanta;
Paprocka, Justyna;
Jamroz, Ewa;
van Spronsen, Francjan J.;
Körner, Christian;
Gilissen, Christian;
Rodenburg, Richard J.;
Eidhof, Ilse;
Van den Heuvel, Lambert;
Thiel, Christian;
Wevers, Ron A.;
Morava, Eva;
Veltman, Joris;
Lefeber, Dirk J.

Publication type:

Article

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4301, doi. 10.1093/hmg/dds263

By:

Bebee, Thomas W.;
Dominguez, Catherine E.;
Samadzadeh-Tarighat, Somayeh;
Akehurst, Kristi L.;
Chandler, Dawn S.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds327
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds330
Publication type:: Article

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4366, doi. 10.1093/hmg/dds291

By:

Criado, Olga;
Aguado, Carmen;
Gayarre, Javier;
Duran-Trio, Lara;
Garcia-Cabrero, Ana M.;
Vernia, Santiago;
Millán, Beatriz San;
Heredia, Miguel;
Romá-Mateo, Carlos;
Mouron, Silvana;
Juana-López, Lucía;
Domínguez, Mercedes;
Navarro, Carmen;
Serratosa, Jose M.;
Sanchez, Marina;
Sanz, Pascual;
Bovolenta, Paola;
Knech, Erwin;
de Cordoba, Santiago Rodriguez

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds328
Publication type:: Article

Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4214, doi. 10.1093/hmg/dds245

By:

Avital, Gal;
Buchshtav, Mor;
Zhidkov, Ilia;
Tuval (Feder), Jeanette;
Dadon, Sarah;
Rubin, Eitan;
Glass, Dan;
Spector, Timothy D.;
Mishmar, Dan

Publication type:

Article

G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4201, doi. 10.1093/hmg/dds244

By:

Papkovskaia, Tatiana D.;
Chau, Kai-Yin;
Inesta-Vaquera, Francisco;
Papkovsky, Dmitri B.;
Healy, Daniel G.;
Nishio, Koji;
Staddon, James;
Duchen, Michael R.;
Hardy, John;
Schapira, Anthony H.V.;
Cooper, J. Mark

Publication type:

Article

Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4325, doi. 10.1093/hmg/dds265

By:

Muchir, Antoine;
Wu, Wei;
Choi, Jason C.;
Iwata, Shinichi;
Morrow, John;
Homma, Shunichi;
Worman, Howard J.

Publication type:

Article

Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in African Americans.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4334, doi. 10.1093/hmg/dds226

By:

McLaren, Paul J.;
Ripke, Stephan;
Pelak, Kimberly;
Weintrob, Amy C.;
Patsopoulos, Nikolaos A.;
Jia, Xiaoming;
Erlich, Rachel L.;
Lennon, Niall J.;
Kadie, Carl M.;
Heckerman, David;
Gupta, Namrata;
Haas, David W.;
Deeks, Steven G.;
Pereyra, Florencia;
Walker, Bruce D.;
de Bakker, Paul I. W.

Publication type:

Article

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4187, doi. 10.1093/hmg/dds243

By:

Fortugno, Paola;
Furio, Laetitia;
Teson, Massimo;
Berretti, Matteo;
El Hachem, May;
Zambruno, Giovanna;
Hovnanian, Alain;
D'Alessio, Marina

Publication type:

Article

Transcription initiation arising from E-cadherin/CDH1 intron2: a novel protein isoform that increases gastric cancer cell invasion and angiogenesis†.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4253, doi. 10.1093/hmg/dds248

By:

Pinheiro, Hugo;
Carvalho, Joana;
Oliveira, Patrícia;
Ferreira, Daniel;
Pinto, Marta Teixeira;
Osório, Hugo;
Licastro, Danilo;
Bordeira-Carriço, Renata;
Jordan, Peter;
Lazarevic, Dejan;
Sanges, Remo;
Stupka, Elia;
Huntsman, David;
Seruca, Raquel;
Oliveira, Carla

Publication type:

Article

Functional consequences of PRPF39 on distant genes and cisplatin sensitivity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4348, doi. 10.1093/hmg/dds266

By:

Stark, Amy L.;
Delaney, Shannon M.;
Wheeler, Heather E.;
Im, Hae Kyung;
Dolan, M. Eileen

Publication type:

Article

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4171, doi. 10.1093/hmg/dds240

By:

Fogel, Brent L.;
Wexler, Eric;
Wahnich, Amanda;
Friedrich, Tara;
Vijayendran, Chandran;
Gao, Fuying;
Parikshak, Neelroop;
Konopka, Genevieve;
Geschwind, Daniel H.

Publication type:

Article

A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4225, doi. 10.1093/hmg/dds246

By:

Xiao, Hong;
Yu, Zhigang;
Wu, Yipin;
Nan, John;
Merry, Diane E.;
Sekiguchi, JoAnn M.;
Ferguson, David O.;
Lieberman, Andrew P.;
Dressler, Gregory R.

Publication type:

Article

Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4270, doi. 10.1093/hmg/dds261

By:

Chen, Chun-Yu;
Tsai, Ming-Shian;
Lin, Chien-Yu;
Yu, I-Shing;
Chen, You-Tzung;
Lin, Shu-Rung;
Juan, Liang-Wen;
Chen, Yuh-Tarng;
Hsu, Hua-Man;
Lee, Li-Jen;
Lin, Shu-Wha

Publication type:

Article

Activation of the stress proteome as a mechanism for small molecule therapeutics.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4237, doi. 10.1093/hmg/dds247

By:

Brose, Rebecca Deering;
Shin, Gloria;
McGuinness, Martina C.;
Schneidereith, Tonya;
Purvis, Shirley;
Dong, Gao X.;
Keefer, Jeffrey;
Spencer, Forrest;
Smith, Kirby D.

Publication type:

Article

Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4286, doi. 10.1093/hmg/dds262

By:

Yuan, Elizabeth;
Tsai, Peter T.;
Greene-Colozzi, Emily;
Sahin, Mustafa;
Kwiatkowski, David J.;
Malinowska, Izabela A.

Publication type:

Article

Replication-timing boundaries facilitate cell-type and species-specific regulation of a rearranged human chromosome in mouse.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4162, doi. 10.1093/hmg/dds232

By:

Pope, Benjamin D.;
Chandra, Tamir;
Buckley, Quinton;
Hoare, Matthew;
Ryba, Tyrone;
Wiseman, Frances K.;
Kuta, Anna;
Wilson, Michael D.;
Odom, Duncan T.;
Gilbert, David M.

Publication type:

Article

An ancient founder mutation in PROKR2 impairs human reproduction.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4314, doi. 10.1093/hmg/dds264

By:

Avbelj Stefanija, Magdalena;
Jeanpierre, Marc;
Sykiotis, Gerasimos P.;
Young, Jacques;
Quinton, Richard;
Abreu, Ana Paula;
Plummer, Lacey;
Au, Margaret G.;
Balasubramanian, Ravikumar;
Dwyer, Andrew A.;
Florez, Jose C.;
Cheetham, Timothy;
Pearce, Simon H.;
Purushothaman, Radhika;
Schinzel, Albert;
Pugeat, Michel;
Jacobson-Dickman, Elka E.;
Ten, Svetlana;
Latronico, Ana Claudia;
Gusella, James F.

Publication type:

Article

Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4365, doi. 10.1093/hmg/dds269

By:

Cornes, Belinda K.;
Khor, Chiea Chuen;
Nongpiur, Monisha E.;
Xu, Liang;
Tay, Wan-Ting;
Zheng, Yingfeng;
Lavanya, Raghavan;
Li, Yang;
Wu, Renyi;
Sim, Xueling;
Wang, Ya-Xing;
Chen, Peng;
Teo, Yik Ying;
Chia, Kee-Seng;
Seielstad, Mark;
Liu, Jianjun;
Hibberd, Martin L.;
Cheng, Ching-Yu;
Saw, Seang-Mei;
Tai, E-Shyong

Publication type:

Article

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4356, doi. 10.1093/hmg/dds267

By:

Mondal, Kajari;
Ramachandran, Dhanya;
Patel, Viren C.;
Hagen, Katie R.;
Bose, Promita;
Cutler, David J.;
Zwick, Michael E.

Publication type:

Article