Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 15

Results: 22

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 15, p. NP, doi. 10.1093/hmg/dds253
Publication type:: Article

A non-human primate system for large-scale genetic studies of complex traits.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3307, doi. 10.1093/hmg/dds160

By:

Jasinska, Anna J.;
Lin, Michelle K.;
Service, Susan;
Choi, Oi-Wa;
DeYoung, Joseph;
Grujic, Olivera;
Kong, Sit-Yee;
Jung, Yoon;
Jorgensen, Mathew J.;
Fairbanks, Lynn A.;
Turner, Trudy;
Cantor, Rita M.;
Wasserscheid, Jessica;
Dewar, Ken;
Warren, Wesley;
Wilson, Richard K.;
Weinstock, George;
Jentsch, J. David;
Freimer, Nelson B.

Publication type:

Article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3500, doi. 10.1093/hmg/dds161

By:

Coppola, Giovanni;
Chinnathambi, Subashchandrabose;
Lee, Jason JiYong;
Dombroski, Beth A.;
Baker, Matt C.;
Soto-Ortolaza, Alexandra I.;
Lee, Suzee E.;
Klein, Eric;
Huang, Alden Y.;
Sears, Renee;
Lane, Jessica R.;
Karydas, Anna M.;
Kenet, Robert O.;
Biernat, Jacek;
Wang, Li-San;
Cotman, Carl W.;
DeCarli, Charles S.;
Levey, Allan I.;
Ringman, John M.;
Mendez, Mario F.

Publication type:

Article

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3435, doi. 10.1093/hmg/dds175

By:

Cornelius, Nanna;
Frerman, Frank E.;
Corydon, Thomas J.;
Palmfeldt, Johan;
Bross, Peter;
Gregersen, Niels;
Olsen, Rikke K. J.

Publication type:

Article

Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3397, doi. 10.1093/hmg/dds172

By:

Natoli, Thomas A.;
Husson, Hervé;
Rogers, Kelly A.;
Smith, Laurie A.;
Wang, Bing;
Budman, Yeva;
Bukanov, Nikolay O.;
Ledbetter, Steven R.;
Klinger, Katherine W.;
Leonard, John P.;
Ibraghimov-Beskrovnaya, Oxana

Publication type:

Article

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3421, doi. 10.1093/hmg/dds174

By:

Kariya, Shingo;
Re, Diane B.;
Jacquier, Arnaud;
Nelson, Katelyn;
Przedborski, Serge;
Monani, Umrao R.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 15, p. NP, doi. 10.1093/hmg/dds259
Publication type:: Article

Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3489, doi. 10.1093/hmg/dds180

By:

Harper, Kathryn M.;
Hiramoto, Takeshi;
Tanigaki, Kenji;
Kang, Gina;
Suzuki, Go;
Trimble, William;
Hiroi, Noboru

Publication type:

Article

Enhanced J-protein interaction and compromised protein stability of mtHsp70 variants lead to mitochondrial dysfunction in Parkinson's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3317, doi. 10.1093/hmg/dds162

By:

Goswami, Arvind Vittal;
Samaddar, Madhuja;
Sinha, Devanjan;
Purushotham, Jaya;
D'Silva, Patrick

Publication type:

Article

Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3408, doi. 10.1093/hmg/dds173

By:

Balmus, Gabriel;
Zhu, Min;
Mukherjee, Sucheta;
Lyndaker, Amy M.;
Hume, Kelly R.;
Lee, Jaesung;
Riccio, Mark L.;
Reeves, Anthony P.;
Sutter, Nathan B.;
Noden, Drew M.;
Peters, Rachel M.;
Weiss, Robert S.

Publication type:

Article

MET expression in melanoma correlates with a lymphangiogenic phenotype.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3387, doi. 10.1093/hmg/dds171

By:

Swoboda, Alexander;
Schanab, Oliver;
Tauber, Stefanie;
Bilban, Martin;
Berger, Walter;
Petzelbauer, Peter;
Mikula, Mario

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 15, p. NP, doi. 10.1093/hmg/dds256
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 15, p. NP, doi. 10.1093/hmg/dds250
Publication type:: Article

Transducer of regulated CREB-binding proteins (TORCs) transcription and function is impaired in Huntington's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3474, doi. 10.1093/hmg/dds178

By:

Chaturvedi, Rajnish Kumar;
Hennessey, Thomas;
Johri, Ashu;
Tiwari, Shashi Kant;
Mishra, Divya;
Agarwal, Swati;
Kim, Yoon Seong;
Beal, M. Flint

Publication type:

Article

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3333, doi. 10.1093/hmg/dds163

By:

Luo, Na;
West, Callah C.;
Murga-Zamalloa, Carlos A.;
Sun, Lou;
Anderson, Ryan M.;
Wells, Clark D.;
Weinreb, Robert N.;
Travers, Jeffrey B.;
Khanna, Hemant;
Sun, Yang

Publication type:

Article

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3374, doi. 10.1093/hmg/dds169

By:

Eykelenboom, Jennifer E.;
Briggs, Gareth J.;
Bradshaw, Nicholas J.;
Soares, Dinesh C.;
Ogawa, Fumiaki;
Christie, Sheila;
Malavasi, Elise L.V.;
Makedonopoulou, Paraskevi;
Mackie, Shaun;
Malloy, Mary P.;
Wear, Martin A.;
Blackburn, Elizabeth A.;
Bramham, Janice;
McIntosh, Andrew M.;
Blackwood, Douglas H.;
Muir, Walter J.;
Porteous, David J.;
Millar, J. Kirsty

Publication type:

Article

Reticulon-like-1, the Drosophila orthologue of the Hereditary Spastic Paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3356, doi. 10.1093/hmg/dds167

By:

O'Sullivan, Niamh C.;
Jahn, Thomas R.;
Reid, Evan;
O'Kane, Cahir J.

Publication type:

Article

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3513, doi. 10.1093/hmg/dds164

By:

Griswold, Anthony J.;
Ma, Deqiong;
Cukier, Holly N.;
Nations, Laura D.;
Schmidt, Mike A.;
Chung, Ren-Hua;
Jaworski, James M.;
Salyakina, Daria;
Konidari, Ioanna;
Whitehead, Patrice L.;
Wright, Harry H.;
Abramson, Ruth K.;
Williams, Scott M.;
Menon, Ramkumar;
Martin, Eden R.;
Haines, Jonathan L.;
Gilbert, John R.;
Cuccaro, Michael L.;
Pericak-Vance, Margaret A.

Publication type:

Article

A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset†.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3461

By:

Soyal, Selma M.;
Felder, Thomas K.;
Auer, Simon;
Hahne, Penelope;
Oberkofler, Hannes;
Witting, Anke;
Paulmichl, Markus;
Landwehrmeyer, G. Bernhard;
Weydt, Patrick;
Patsch, Wolfgang

Publication type:

Article

Accumulation of instability in serial differentiation and reprogramming of parthenogenetic human cells.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3366, doi. 10.1093/hmg/dds168

By:

Vassena, Rita;
Montserrat, Nuria;
Carrasco Canal, Beatriz;
Aran, Begoña;
de Oñate, Lorena;
Veiga, Anna;
Izpisua Belmonte, Juan Carlos

Publication type:

Article

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166

By:

Dharmadhikari, Avinash V.;
Kang, Sung-Hae L.;
Szafranski, Przemyslaw;
Person, Richard E.;
Sampath, Srirangan;
Prakash, Siddharth K.;
Bader, Patricia I.;
Phillips, John A.;
Hannig, Vickie;
Williams, Misti;
Vinson, Sherry S.;
Wilfong, Angus A.;
Reimschisel, Tyler E.;
Craigen, William J.;
Patel, Ankita;
Bi, Weimin;
Lupski, James R.;
Belmont, John;
Cheung, Sau Wai;
Stankiewicz, Pawel

Publication type:

Article

Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 15, p. 3449, doi. 10.1093/hmg/dds176

By:

Gentil, Christel;
Leturcq, France;
Ben Yaou, Rabah;
Kaplan, Jean-Claude;
Laforet, Pascal;
Pénisson-Besnier, Isabelle;
Espil-Taris, Caroline;
Voit, Thomas;
Garcia, Luis;
Piétri-Rouxel, France

Publication type:

Article