Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 12

Results: 25

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2663, doi. 10.1093/hmg/dds091

By:

Cho, Seo-Hee;
Kim, Jin Young;
Simons, David L.;
Song, Ji Yun;
Le, Julie H.;
Swindell, Eric C.;
Jamrich, Milan;
Wu, Samuel M.;
Kim, Seonhee

Publication type:

Article

Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2843, doi. 10.1093/hmg/dds093

By:

Humphreys, Ryan;
Zheng, Wei;
Prince, Lawrence S;
Qu, Xianghu;
Brown, Christopher;
Loomes, Kathleen;
Huppert, Stacey S.;
Baldwin, Scott;
Goudy, Steven

Publication type:

Article

Alternative oxidase rescues mitochondria-mediated dopaminergic cell loss in Drosophila.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2698, doi. 10.1093/hmg/dds096

By:

Humphrey, Dickon M.;
Parsons, Richard B.;
Ludlow, Zoe N.;
Riemensperger, Thomas;
Esposito, Giovanni;
Verstreken, Patrik;
Jacobs, Howard T.;
Birman, Serge;
Hirth, Frank

Publication type:

Article

Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2825

By:

Martin, Jose-Ezequiel;
Broen, Jasper C.;
Carmona, F. David;
Teruel, Maria;
Simeon, Carmen P.;
Vonk, Madelon C.;
van ‘t Slot, Ruben;
Rodriguez-Rodriguez, Luis;
Vicente, Esther;
Fonollosa, Vicente;
Ortego-Centeno, Norberto;
González-Gay, Miguel A.;
García-Hernández, Francisco J.;
de la Peña, Paloma García;
Carreira, Patricia;
Voskuyl, Alexandre E.;
Schuerwegh, Annemie J.;
van Riel, Piet L.C.M.;
Kreuter, Alexander;
Witte, Torsten

Publication type:

Article

Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2807, doi. 10.1093/hmg/dds108

By:

Strokin, Mikhail;
Seburn, Kevin L.;
Cox, Gregory A.;
Martens, Kimberly A.;
Reiser, Georg

Publication type:

Article

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105

By:

Hannan, Fadil M.;
Nesbit, M. Andrew;
Zhang, Chen;
Cranston, Treena;
Curley, Alan J.;
Harding, Brian;
Fratter, Carl;
Rust, Nigel;
Christie, Paul T.;
Turner, Jeremy J.O.;
Lemos, Manuel C.;
Bowl, Michael R.;
Bouillon, Roger;
Brain, Caroline;
Bridges, Nicola;
Burren, Christine;
Connell, John M.;
Jung, Heike;
Marks, Eileen;
McCredie, David

Publication type:

Article

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2646, doi. 10.1093/hmg/dds089

By:

Bras, Jose;
Verloes, Alain;
Schneider, Susanne A.;
Mole, Sara E.;
Guerreiro, Rita J.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds202
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds204
Publication type:: Article

A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2836, doi. 10.1093/hmg/dds103

By:

Osman, Wael;
Low, Siew-Kee;
Takahashi, Atsushi;
Kubo, Michiaki;
Nakamura, Yusuke

Publication type:

Article

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2738, doi. 10.1093/hmg/dds101

By:

Roeb, Wendy;
Higgins, Jake;
King, Mary-Claire

Publication type:

Article

Imprinting control region (ICR) of the Peg3 domain.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2677, doi. 10.1093/hmg/dds092

By:

Kim, Joomyeong;
Ekram, Muhammad B.;
Kim, Hana;
Faisal, Mohammad;
Frey, Wesley D.;
Huang, Jennifer M.;
Tran, KimNgoc;
Kim, Michelle M.;
Yu, Sungryul

Publication type:

Article

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104

By:

Roux-Buisson, Nathalie;
Cacheux, Marine;
Fourest-Lieuvin, Anne;
Fauconnier, Jeremy;
Brocard, Julie;
Denjoy, Isabelle;
Durand, Philippe;
Guicheney, Pascale;
Kyndt, Florence;
Leenhardt, Antoine;
Le Marec, Hervé;
Lucet, Vincent;
Mabo, Philippe;
Probst, Vincent;
Monnier, Nicole;
Ray, Pierre F.;
Santoni, Elodie;
Trémeaux, Pauline;
Lacampagne, Alain;
Fauré, Julien

Publication type:

Article

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2631, doi. 10.1093/hmg/dds088

By:

Decarpentrie, Fanny;
Vernet, Nadège;
Mahadevaiah, Shantha K.;
Longepied, Guy;
Streichemberger, Eric;
Aknin-Seifer, Isabelle;
Ojarikre, Obah A.;
Burgoyne, Paul S.;
Metzler-Guillemain, Catherine;
Mitchell, Michael J.

Publication type:

Article

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2651, doi. 10.1093/hmg/dds090

By:

Ordonez, M. Paulina;
Roberts, Elizabeth A.;
Kidwell, Chelsea U.;
Yuan, Shauna H.;
Plaisted, Warren C.;
Goldstein, Lawrence S.B.

Publication type:

Article

DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2779, doi. 10.1093/hmg/dds106

By:

Malavasi, Elise L.V.;
Ogawa, Fumiaki;
Porteous, David J.;
Millar, J. Kirsty

Publication type:

Article

Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2793, doi. 10.1093/hmg/dds107

By:

Kaltenborn, Eva;
Kern, Sunčana;
Frixel, Sabrina;
Fragnet, Laetitia;
Conzelmann, Karl-Klaus;
Zarbock, Ralf;
Griese, Matthias

Publication type:

Article

Impaired neurotransmission in ether lipid-deficient nerve terminals.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2713, doi. 10.1093/hmg/dds097

By:

Brodde, Alexander;
Teigler, Andre;
Brugger, Britta;
Lehmann, Wolf D.;
Wieland, Felix;
Berger, Johannes;
Just, Wilhelm W.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds201
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 12, p. NP, doi. 10.1093/hmg/dds203
Publication type:: Article

Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2619, doi. 10.1093/hmg/dds087

By:

Zuercher, Jurian;
Fritzsche, Martin;
Feil, Silke;
Mohn, Lucas;
Berger, Wolfgang

Publication type:

Article

The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2745, doi. 10.1093/hmg/dds102

By:

Ahmad, Saif;
Wang, Yi;
Shaik, Gouse M.;
Burghes, Arthur H.;
Gangwani, Laxman

Publication type:

Article

Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2688, doi. 10.1093/hmg/dds095

By:

Wagner, Gregory R.;
Pride, P. Melanie;
Babbey, Clifford M.;
Payne, R. Mark

Publication type:

Article

Neuropathogenic role of adenylate kinase-1 in Aβ-mediated tau phosphorylation via AMPK and GSK3β.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2725, doi. 10.1093/hmg/dds100

By:

Park, Hyejin;
Kam, Tae-In;
Kim, Youngdoo;
Choi, Hyunwoo;
Gwon, Youngdae;
Kim, Changsoo;
Koh, Jae-Young;
Jung, Yong-Keun

Publication type:

Article

Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2815

By:

Wallace, Chris;
Rotival, Maxime;
Cooper, Jason D.;
Rice, Catherine M.;
Yang, Jennie H.M.;
McNeill, Mhairi;
Smyth, Deborah J.;
Niblett, David;
Cambien, François;
Tiret, Laurence;
Todd, John A.;
Clayton, David G.;
Blankenberg, Stefan

Publication type:

Article