Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 17

Results: 22

Loss of function of Ifi202b by a microdeletion on chromosome 1 of C57BL/6J mice suppresses 11β-hydroxysteroid dehydrogenase type 1 expression and development of obesity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3845, doi. 10.1093/hmg/dds213

By:

Vogel, Heike;
Scherneck, Stephan;
Kanzleiter, Timo;
Benz, Verena;
Kluge, Reinhart;
Stadion, Mandy;
Kryvych, Sergiy;
Blüher, Matthias;
Klöting, Nora;
Joost, Hans-Georg;
Schürmann, Annette

Publication type:

Article

Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3871, doi. 10.1093/hmg/dds215

By:

Bryson, J. Barney;
Hobbs, Carl;
Parsons, Michael J.;
Bosch, Karen D.;
Pandraud, Amelie;
Walsh, Frank S.;
Doherty, Patrick;
Greensmith, Linda

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds276
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds280
Publication type:: Article

Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3785, doi. 10.1093/hmg/dds206

By:

Usenovic, Marija;
Knight, Adam L.;
Ray, Arpita;
Wong, Victoria;
Brown, Kevin R.;
Caldwell, Guy A.;
Caldwell, Kim A.;
Stagljar, Igor;
Krainc, Dimitri

Publication type:

Article

Retrocochlear function of the peripheral deafness gene Cacna1d.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3896, doi. 10.1093/hmg/dds217

By:

Satheesh, Somisetty V.;
Kunert, Katrin;
Rüttiger, Lukas;
Zuccotti, Annalisa;
Schönig, Kai;
Friauf, Eckhard;
Knipper, Marlies;
Bartsch, Dusan;
Nothwang, Hans Gerd

Publication type:

Article

E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3910, doi. 10.1093/hmg/dds219

By:

Blanchet, Emilie;
Annicotte, Jean-Sébastien;
Pradelli, Ludivine A.;
Hugon, Gérald;
Matecki, Stéfan;
Mornet, Dominique;
Rivier, François;
Fajas, Lluis

Publication type:

Article

The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3918, doi. 10.1093/hmg/dds220

By:

Simpfendorfer, Kim R.;
Olsson, Lina M.;
Manjarrez Orduño, Nataly;
Khalili, Houman;
Simeone, Alyssa M.;
Katz, Matthew S.;
Lee, Annette T.;
Diamond, Betty;
Gregersen, Peter K.

Publication type:

Article

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3776, doi. 10.1093/hmg/dds199

By:

van Blitterswijk, Marka;
van Es, Michael A.;
Hennekam, Eric A.M.;
Dooijes, Dennis;
van Rheenen, Wouter;
Medic, Jelena;
Bourque, Pierre R.;
Schelhaas, Helenius J.;
van der Kooi, Anneke J.;
de Visser, Marianne;
de Bakker, Paul I.W.;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3825, doi. 10.1093/hmg/dds211

By:

Andrade, Luciana Nogueira de Sousa;
Nathanson, Jason L.;
Yeo, Gene W.;
Menck, Carlos Frederico Martins;
Muotri, Alysson Renato

Publication type:

Article

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3835, doi. 10.1093/hmg/dds212

By:

Delmaghani, Sedigheh;
Aghaie, Asadollah;
Michalski, Nicolas;
Bonnet, Crystel;
Weil, Dominique;
Petit, Christine

Publication type:

Article

Signaling defects in iPSC-derived fragile X premutation neurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3795, doi. 10.1093/hmg/dds207

By:

Liu, Jing;
Kościelska, Katarzyna A.;
Cao, Zhengyu;
Hulsizer, Susan;
Grace, Natalie;
Mitchell, Gaela;
Nacey, Catherine;
Githinji, Jackline;
McGee, Jeannine;
Garcia-Arocena, Dolores;
Hagerman, Randi J.;
Nolta, Jan;
Pessah, Isaac N.;
Hagerman, Paul J.

Publication type:

Article

Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3883, doi. 10.1093/hmg/dds216

By:

Feyeux, Maxime;
Bourgois-Rocha, Fany;
Redfern, Amanda;
Giles, Peter;
Lefort, Nathalie;
Aubert, Sophie;
Bonnefond, Caroline;
Bugi, Aurore;
Ruiz, Marta;
Deglon, Nicole;
Jones, Lesley;
Peschanski, Marc;
Allen, Nicholas D.;
Perrier, Anselme L.

Publication type:

Article

Early complex I assembly defects result in rapid turnover of the ND1 subunit.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3815, doi. 10.1093/hmg/dds209

By:

Zurita Rendón, Olga;
Shoubridge, Eric A.

Publication type:

Article

Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3739, doi. 10.1093/hmg/dds154

By:

Gladding, Clare M.;
Sepers, Marja D.;
Xu, Jian;
Zhang, Lily Y.J.;
Milnerwood, Austen J.;
Lombroso, Paul J.;
Raymond, Lynn A.

Publication type:

Article

Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3753, doi. 10.1093/hmg/dds182

By:

Petruzzella, Vittoria;
Carrozzo, Rosalba;
Calabrese, Claudia;
Dell'Aglio, Rosa;
Trentadue, Raffaella;
Piredda, Roberta;
Artuso, Lucia;
Rizza, Teresa;
Bianchi, Marzia;
Porcelli, Anna Maria;
Guerriero, Silvana;
Gasparre, Giuseppe;
Attimonelli, Marcella

Publication type:

Article

The role of genetic breast cancer susceptibility variants as prognostic factors.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3926

By:

Fasching, Peter A.;
Pharoah, Paul D.P.;
Cox, Angela;
Nevanlinna, Heli;
Bojesen, Stig E.;
Karn, Thomas;
Broeks, Annegien;
van Leeuwen, Flora E.;
van 't Veer, Laura J.;
Udo, Renate;
Dunning, Alison M.;
Greco, Dario;
Aittomäki, Kristiina;
Blomqvist, Carl;
Shah, Mitul;
Nordestgaard, Børge G.;
Flyger, Henrik;
Hopper, John L.;
Southey, Melissa C.;
Apicella, Carmel

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds274
Publication type:: Article

Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3806, doi. 10.1093/hmg/dds208

By:

Cheval, Hélène;
Guy, Jacky;
Merusi, Cara;
De Sousa, Dina;
Selfridge, Jim;
Bird, Adrian

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 17, p. NP, doi. 10.1093/hmg/dds278
Publication type:: Article

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3765, doi. 10.1093/hmg/dds198

By:

Cossins, Judith;
Liu, Wei Wei;
Belaya, Katsiaryna;
Maxwell, Susan;
Oldridge, Michael;
Lester, Tracy;
Robb, Stephanie;
Beeson, David

Publication type:

Article

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 17, p. 3858, doi. 10.1093/hmg/dds214

By:

Maltecca, Francesca;
De Stefani, Diego;
Cassina, Laura;
Consolato, Francesco;
Wasilewski, Michal;
Scorrano, Luca;
Rizzuto, Rosario;
Casari, Giorgio

Publication type:

Article