Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 23

Results: 24

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5185

By:

Knight, Jo;
Spain, Sarah L.;
Capon, Francesca;
Hayday, Adrian;
Nestle, Frank O.;
Clop, Alex;
Barker, Jonathan N.;
Weale, Michael E.;
Trembath, Richard C.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds462
Publication type:: Article

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5106, doi. 10.1093/hmg/dds356

By:

de Nijs, Laurence;
Wolkoff, Nathalie;
Coumans, Bernard;
Delgado-Escueta, Antonio V.;
Grisar, Thierry;
Lakaye, Bernard

Publication type:

Article

Can genetic associations change with age? CFH and age-related macular degeneration.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5229, doi. 10.1093/hmg/dds364

By:

Adams, Madeleine K.M.;
Simpson, Julie A.;
Richardson, Andrea J.;
Guymer, Robyn H.;
Williamson, Elizabeth;
Cantsilieris, Stuart;
English, Dallas R.;
Aung, Khin Zaw;
Makeyeva, Galina A.;
Giles, Graham G.;
Hopper, John;
Robman, Liubov D.;
Baird, Paul N.

Publication type:

Article

Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5222, doi. 10.1093/hmg/dds361

By:

Jin, Guangfu;
Sun, Jielin;
Kim, Seong-Tae;
Feng, Junjie;
Wang, Zhong;
Tao, Sha;
Chen, Zhuo;
Purcell, Lina;
Smith, Shelly;
Isaacs, William B.;
Rittmaster, Roger S.;
Zheng, S. Lilly;
Condreay, Lynn D.;
Xu, Jianfeng

Publication type:

Article

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5019, doi. 10.1093/hmg/dds343

By:

van Rahden, Vanessa A.;
Brand, Kristina;
Najm, Juliane;
Heeren, Joerg;
Pfeffer, Suzanne R.;
Braulke, Thomas;
Kutsche, Kerstin

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds453
Publication type:: Article

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5078, doi. 10.1093/hmg/dds354

By:

Dietrich, Paula;
Alli, Shanta;
Shanmugasundaram, Revathi;
Dragatsis, Ioannis

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds456
Publication type:: Article

ETS1 regulates the expression of ATXN2.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5048, doi. 10.1093/hmg/dds349

By:

Scoles, Daniel R.;
Pflieger, Lance T.;
Thai, Khanh K.;
Hansen, Stephen T.;
Dansithong, Warunee;
Pulst, Stefan-M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 23, p. NP, doi. 10.1093/hmg/dds459
Publication type:: Article

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5039, doi. 10.1093/hmg/dds348

By:

Lu, Cuiling;
Lin, Li;
Tan, Huiping;
Wu, Hao;
Sherman, Stephanie L.;
Gao, Fei;
Jin, Peng;
Chen, Dahua

Publication type:

Article

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5238, doi. 10.1093/hmg/dds366

By:

Shannon Weickert, Cynthia;
Miranda-Angulo, Ana L.;
Wong, Jenny;
Perlman, William R.;
Ward, Sarah E.;
Radhakrishna, Vakkalanka;
Straub, Richard E.;
Weinberger, Daniel R.;
Kleinman, Joel E.

Publication type:

Article

Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5193, doi. 10.1093/hmg/dds347

By:

Lui, Julian C.;
Nilsson, Ola;
Chan, Yingleong;
Palmer, Cameron D.;
Andrade, Anenisia C.;
Hirschhorn, Joel N.;
Baron, Jeffrey

Publication type:

Article

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5066, doi. 10.1093/hmg/dds350

By:

Diaz, Francisca;
Garcia, Sofia;
Padgett, Kyle R.;
Moraes, Carlos T.

Publication type:

Article

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5174, doi. 10.1093/hmg/dds368

By:

Di Gioia, Silvio Alessandro;
Letteboer, Stef J.F.;
Kostic, Corinne;
Bandah-Rozenfeld, Dikla;
Hetterschijt, Lisette;
Sharon, Dror;
Arsenijevic, Yvan;
Roepman, Ronald;
Rivolta, Carlo

Publication type:

Article

Seven newly identified loci for autoimmune thyroid disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5202

By:

Cooper, Jason D.;
Simmonds, Matthew J.;
Walker, Neil M.;
Burren, Oliver;
Brand, Oliver J.;
Guo, Hui;
Wallace, Chris;
Stevens, Helen;
Coleman, Gillian;
Franklyn, Jayne A.;
Todd, John A.;
Gough, Stephen C.L.

Publication type:

Article

Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5209, doi. 10.1093/hmg/dds359

By:

Juran, Brian D.;
Hirschfield, Gideon M.;
Invernizzi, Pietro;
Atkinson, Elizabeth J.;
Li, Yafang;
Xie, Gang;
Kosoy, Roman;
Ransom, Michael;
Sun, Ye;
Bianchi, Ilaria;
Schlicht, Erik M.;
Lleo, Ana;
Coltescu, Catalina;
Bernuzzi, Francesca;
Podda, Mauro;
Lammert, Craig;
Shigeta, Russell;
Chan, Landon L.;
Balschun, Tobias;
Marconi, Maurizio

Publication type:

Article

Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5131, doi. 10.1093/hmg/dds360

By:

Manczak, Maria;
Reddy, P. Hemachandra

Publication type:

Article

Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5091, doi. 10.1093/hmg/dds355

By:

Dumont, Magali;
Stack, Cliona;
Elipenahli, Ceyhan;
Jainuddin, Shari;
Gerges, Meri;
Starkova, Natalia;
Calingasan, Noel Y.;
Yang, Lichuan;
Tampellini, Davide;
Starkov, Anatoly A.;
Chan, Robin B.;
Di Paolo, Gilbert;
Pujol, Aurora;
Beal, M. Flint

Publication type:

Article

Reduced cathepsins B and D cause impaired autophagic degradation that can be almost completely restored by overexpression of these two proteases in Sap C-deficient fibroblasts.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5159, doi. 10.1093/hmg/dds367

By:

Tatti, Massimo;
Motta, Marialetizia;
Di Bartolomeo, Sabrina;
Scarpa, Susanna;
Cianfanelli, Valentina;
Cecconi, Francesco;
Salvioli, Rosa

Publication type:

Article

PDGF-B-mediated downregulation of miR-21: new insights into PDGF signaling in glioblastoma.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5118, doi. 10.1093/hmg/dds358

By:

Costa, Pedro M.;
Cardoso, Ana L.;
Pereira de Almeida, Luis F.;
Bruce, Jeffrey N.;
Canoll, Peter;
Pedroso de Lima, Maria C.

Publication type:

Article

α-Synuclein levels modulate Huntington's disease in mice.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5237, doi. 10.1093/hmg/dds351

By:

Corrochano, Silvia;
Renna, Maurizio;
Carter, Sarah;
Chrobot, Nichola;
Kent, Rose;
Stewart, Michelle;
Cooper, Jason;
Brown, Steve D.M.;
Rubinsztein, David C.;
Acevedo-Arozena, Abraham

Publication type:

Article

Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 23, p. 5147, doi. 10.1093/hmg/dds365

By:

Song, Lanying;
Shan, Yuxi;
Lloyd, K.C. Kent;
Cortopassi, Gino A.

Publication type:

Article