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

Results: 18

Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4718, doi. 10.1093/hmg/dds312

By:

Sztal, Tamar E.;
Sonntag, Carmen;
Hall, Thomas E.;
Currie, Peter D.

Publication type:

Article

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4761, doi. 10.1093/hmg/dds320

By:

Falivelli, Giulia;
De Jaco, Antonella;
Favaloro, Flores Lietta;
Kim, Hyuck;
Wilson, Jennifer;
Dubi, Noga;
Ellisman, Mark H.;
Abrahams, Brett S.;
Taylor, Palmer;
Comoletti, Davide

Publication type:

Article

Genetic-epigenetic interaction modulates μ-opioid receptor regulation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4751, doi. 10.1093/hmg/dds314

By:

Oertel, Bruno G.;
Doehring, Alexandra;
Roskam, Bianca;
Kettner, Mattias;
Nadja Hackmann, Nadja;
Ferreirós, Nerea;
Schmidt, Peter H.;
Lötsch, Jörn

Publication type:

Article

The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4732, doi. 10.1093/hmg/dds313

By:

Santambrogio, Sara;
Ricca, Alessandra;
Maderna, Claudio;
leracili, Alessandro;
Aureli, Massimo;
Sonnino, Sandro;
Kulik, Willem;
Aimar, Patrizia;
Bonfanti, Luca;
Martino, Sabata;
Gritti, Angela

Publication type:

Article

Hsp90 stabilizes Cdc25A and counteracts heat shock-mediated Cdc25A degradation and cell-cycle attenuation in pancreatic carcinoma cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4615, doi. 10.1093/hmg/dds303

By:

Giessrigl, Benedikt;
Krieger, Sigurd;
Rosner, Margit;
Huttary, Nicole;
Saiko, Philipp;
Alami, Mouad;
Messaoudi, Samir;
Peyrat, Jean-François;
Maciuk, Alexandre;
Gollinger, Michaela;
Kopf, Sabine;
Kazlauskas, Egidijus;
Mazal, Peter;
Szekeres, Thomas;
Hengstschlager, Markus;
Matulis, Daumantas;
Jäger, Walter;
Krupitza, Georg

Publication type:

Article

Genome-wide meta-analysis of common variant differences between men and women.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4805, doi. 10.1093/hmg/dds304

By:

Boraska, Vesna;
Jeroncic, Ana;
Colonna, Vincenza;
Southam, Lorraine;
Nyholt, Dale R.;
Rayner, Nigel William;
Perry, John R. B.;
Toniolo, Daniela;
Albrecht, Eva;
Wei Ang;
Bandinelli, Stefania;
Barbalic, Maja;
Barroso, Inés;
Beckmann, Jacques S.;
Biffar, Reiner;
Boomsma, Dorret;
Campbell, Harry;
Corre, Tanguy;
Erdmann, Jeanette;
Esko, Tönu

Publication type:

Article

PACSIN2 polymorphism influences TPMT activity and mercaptopurine-related gastrointestinal toxicity.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 7993, doi. 10.1093/hmg/dds302

By:

Stocco, Gabrieie;
Wenjian Yang;
Crews, Kristine R.;
Thierfelder, William E.;
Decorti, Giuliana;
Londero, Margherita;
Franca, Raffaella;
Rabusin, Marco;
Valsecchi, Maria Grazia;
Deqing Pei;
Cheng Cheng;
Paugh, Steven W.;
Ramsey, Laura B.;
Diouf, Barthelemy;
McCorkle, Joseph Robert;
Jones, Terreia S.;
Ching-Hon Pui;
Relling, Mary V.;
Evans, William E.

Publication type:

Article

Individual common variants exert weak effects on the risk for autism spectrum disorderspi.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4781, doi. 10.1093/hmg/dds301

By:

Anney, Richard;
Klei, Lambertus;
Pinto, Dalila;
Almeida, Joana;
Bacchelli, Elena;
Baird, Gillian;
Bolshakova, Nadia;
Bölte, Sven;
Bolton, Patrick F.;
Bourgeron, Thomas;
Brennan, Sean;
Brian, Jessica;
Casey, Jillian;
Conroy, Judith;
Correia, Catarina;
Corsello, Christina;
Crawford, Emily L.;
de Jonge, Maretha;
Delorme, Richard;
Duketis, Eftichia

Publication type:

Article

Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4774, doi. 10.1093/hmg/dds300

By:

Qibin Qi;
Menzaghi, Claudia;
Smith, Shelly;
Liming Liang;
de Rekeneire, Nathalie;
Garcia, Melissa E.;
Lohman, Kurt K.;
Miljkovic, Iva;
Strotmeyer, Elsa S.;
Cummings, Steve R.;
Kanaya, Alka M.;
Tylavsky, Frances A.;
Satterfield, Suzanne;
Jingzhong Ding;
Rimm, Eric B.;
Trischitta, Vincenzo;
Hu, Frank B.;
Yongmei Liu;
Lu Qi

Publication type:

Article

Loss of Magedl results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4703, doi. 10.1093/hmg/dds310

By:

Dombret, Carlos;
Nguyen, Tuan;
Schakman, Olivier;
Michaud, Jacques L.;
Hardin-Pouzet, Hélène;
Bertrand, Mathieu J. M.;
De Backer, Olivier

Publication type:

Article

Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic rats.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4602, doi. 10.1093/hmg/dds299

By:

Cao Huang;
Jianbin Tong;
Fangfang Bi;
Qinxue Wu;
Bo Huang;
Hongxia Zhou;
Xu-Gang Xia

Publication type:

Article

Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4655, doi. 10.1093/hmg/dds307

By:

Wei Liu;
Fangfang Jiang;
Xiaolin Bi;
Zhang, Yong Q.

Publication type:

Article

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4645, doi. 10.1093/hmg/dds306

By:

Chamberlain, Christopher M.;
Ranum, Laura P. W.

Publication type:

Article

Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4628, doi. 10.1093/hmg/dds305

By:

Chia-Yi Shung;
Sara Ota;
Zi-Qiang Zhou;
Keene, Douglas R.;
Hurlin, Peter J.

Publication type:

Article

Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent traffic.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4680, doi. 10.1093/hmg/dds309

By:

Arduíno, Daniela M.;
Esteves, A. Raquel;
Cortes, Luísa;
Silva, Diana F.;
Patel, Bindi;
Grazina, Manuela;
Swerdlow, Russell H.;
Oliveira, Catarina R.;
Cardoso, Sandra M.

Publication type:

Article

Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4669, doi. 10.1093/hmg/dds308

By:

Hansmann, Tamara;
Pliushch, Galyna;
Leubner, Monika;
Kroll, Patricia;
Endt, Daniela;
Gehrig, Andrea;
Preisler-Adams, Sabine;
Wieacker, Peter;
Haaf, Thomas

Publication type:

Article

Enhanced β-secretase processing alters APP axonal transport and leads to axonal defects.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4587, doi. 10.1093/hmg/dds297

By:

Rodrigues, Elizabeth M.;
Weissmiller, April M.;
Goldstein, Lawrence S. B.

Publication type:

Article

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 21, p. 4573, doi. 10.1093/hmg/dds268

By:

Zach, Frank;
Grassmann, Felix;
Langmann, Thomas;
Sorusch, Nasrin;
Wolfrum, Uwe;
Stöhr, Heidi

Publication type:

Article