Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 5

Results: 13

Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 759, doi. 10.1093/hmg/ddm348

By:

Li, Yonghong;
Grupe, Andrew;
Rowland, Charles;
Holmans, Peter;
Segurado, Ricardo;
Abraham, Richard;
Jones, Lesley;
Catanese, Joseph;
Ross, David;
Mayo, Kevin;
Martinez, Maribel;
Hollingworth, Paul;
Goate, Alison;
Cairns, Nigel J.;
Racette, Brad A.;
Perlmutter, Joel S.;
O'Donovan, Michael C.;
Morris, John C.;
Brayne, Carol;
Rubinsztein, David C.

Publication type:

Article

A network of dopaminergic gene variations implicated as risk factors for schizophrenia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 747, doi. 10.1093/hmg/ddm347

By:

Talkowski, Michael E.;
Kirov, George;
Bamne, Mikhil;
Georgieva, Lyudmila;
Torres, Gonzalo;
Mansour, Hader;
Chowdari, Kodavali V.;
Milanova, Vihra;
Wood, Joel;
McClain, Lora;
Prasad, Konasale;
Shirts, Brian;
Zhang, Jianping;
O’Donovan, Michael C.;
Owen, Michael J.;
Devlin, Bernie;
Nimgaonkar, Vishwajit L.

Publication type:

Article

The neuronal nicotinic receptor subunit genes (CHRNA6 and CHRNB3) are associated with subjective responses to tobacco.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 724

By:

Zeiger, Joanna S.;
Haberstick, Brett C.;
Schlaepfer, Isabel;
Collins, Allan C.;
Corley, Robin P.;
Crowley, Thomas J.;
Hewitt, John K.;
Hopfer, Christian J.;
Lessem, Jeffrey;
McQueen, Matthew B.;
Rhee, Soo Hyun;
Ehringer, Marissa A.

Publication type:

Article

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 735

By:

Al-Mahdawi, Sahar;
Pinto, Ricardo Mouro;
Ismail, Ozama;
Varshney, Dhaval;
Lymperi, Stefania;
Sandi, Chiranjeevi;
Trabzuni, Daniah;
Pook, Mark

Publication type:

Article

Long, abundantly expressed non-coding transcripts are altered in cancer.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 642, doi. 10.1093/hmg/ddm336

By:

Perez, Damon S.;
Hoage, Tiffany R.;
Pritchett, Jay R.;
Ducharme-Smith, Allison L.;
Halling, Meredith L.;
Ganapathiraju, Sree C.;
Streng, Paul S.;
Smith, David I.

Publication type:

Article

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 656, doi. 10.1093/hmg/ddm337

By:

Vithana, Eranga N.;
Morgan, Patricio E.;
Ramprasad, Vedam;
Tan, Donald T.H.;
Yong, Victor H.K;
Venkataraman, Divya;
Venkatraman, Anandalakshmi;
Yam, Gary H.F.;
Nagasamy, Soumittra;
Law, Ricky W.K.;
Rajagopal, Rama;
Pang, Chi P.;
Kumaramanickevel, Govindsamy;
Casey, Joseph R.;
Aung, Tin

Publication type:

Article

Loss of CHK1 function impedes DNA damage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 679, doi. 10.1093/hmg/ddm340

By:

Guervilly, Jean-Hugues;
Macé-Aimé, Gaëtane;
Rosselli, Filippo

Publication type:

Article

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 631

By:

Farrington-Rock, Claire;
Kirilova, Veneta;
Dillard-Telm, Lisa;
Borowsky, Alexander D.;
Chalk, Sara;
Rock, Matthew J.;
Cohn, Daniel H.;
Krakow, Deborah

Publication type:

Article

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 710

By:

Hewitt, Alex W.;
Sharma, Shiwani;
Burdon, Kathryn P.;
Wang, Jie Jin;
Baird, Paul N.;
Dimasi, David P.;
Mackey, David A.;
Mitchell, Paul;
Craig, Jamie E.

Publication type:

Article

Regulation of glycogen synthesis by the laforin–malin complex is modulated by the AMP-activated protein kinase pathway.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 667, doi. 10.1093/hmg/ddm339

By:

Solaz-Fuster, Maria Carmen;
Gimeno-Alcañiz, José Vicente;
Ros, Susana;
Fernandez-Sanchez, Maria Elena;
Garcia-Fojeda, Belen;
Garcia, Olga Criado;
Vilchez, David;
Dominguez, Jorge;
Garcia-Rocha, Mar;
Sanchez-Piris, Maribel;
Aguado, Carmen;
Knecht, Erwin;
Serratosa, Jose;
Guinovart, Joan Josep;
Sanz, Pascual;
de Córdoba, Santiago Rodriguez

Publication type:

Article

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 690, doi. 10.1093/hmg/ddm341

By:

Jin, Bilian;
Tao, Qian;
Peng, Jinrong;
Soo, Hui Meng;
Wu, Wei;
Ying, Jianming;
Fields, C. Robert;
Delmas, Amber L.;
Liu, Xuefeng;
Qiu, Jingxin;
Robertson, Keith D.

Publication type:

Article

A genome-wide association study of sporadic ALS in a homogenous Irish population.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 768

By:

Cronin, Simon;
Berger, Stephen;
Ding, Jinhui;
Schymick, Jennifer C;
Washecka, Nicole;
Hernandez, Dena G.;
Greenway, Matthew J.;
Bradley, Daniel G.;
Traynor, Bryan J.;
Hardiman, Orla

Publication type:

Article

A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 717

By:

Wendland, Jens R.;
Moya, Pablo R.;
Kruse, Matthew R.;
Ren-Patterson, Renee F.;
Jensen, Catherine L.;
Timpano, Kiara R.;
Murphy, Dennis L.

Publication type:

Article