Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 22

Results: 15

Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2683, doi. 10.1093/hmg/ddm222

By:

Ponio, Julie Boyer-Di;
Wright-Crosnier, Cécile;
Groyer-Picard, Marie-Thérèse;
Driancourt, Catherine;
Beau, Isabelle;
Hadchouel, Michelle;
Meunier-Rotival, Michèle

Publication type:

Article

Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2760, doi. 10.1093/hmg/ddm233

By:

Chapple, J. Paul;
Anthony, Karen;
Martin, Teresa Rodriguez;
Dev, Arvind;
Cooper, Thomas A.;
Gallo, Jean-Marc

Publication type:

Article

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2720, doi. 10.1093/hmg/ddm226

By:

De Vos, Kurt J.;
Chapman, Anna L.;
Tennant, Maria E.;
Manser, Catherine;
Tudor, Elizabeth L.;
Lau, Kwok-Fai;
Brownlees, Janet;
Ackerley, Steven;
Shaw, Pamela J.;
McLoughlin, Declan M.;
Shaw, Christopher E.;
Leigh, P. Nigel;
Miller, Christopher C.J.;
Grierson, Andrew J.

Publication type:

Article

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2693, doi. 10.1093/hmg/ddm223

By:

Fraldi, Alessandro;
Hemsley, Kim;
Crawley, Allison;
Lombardi, Alessia;
Lau, Adeline;
Sutherland, Leanne;
Auricchio, Alberto;
Ballabio, Andrea;
Hopwood, John J.

Publication type:

Article

Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2751, doi. 10.1093/hmg/ddm232

By:

Eden, Emily R.;
Sun, Xi-Ming;
Patel, Dilipkumar D.;
Soutar, Anne K.

Publication type:

Article

Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2713, doi. 10.1093/hmg/ddm225

By:

Bischof, Jocelyn M.;
Stewart, Colin L.;
Wevrick, Rachel

Publication type:

Article

Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2703, doi. 10.1093/hmg/ddm224

By:

Hamshere, Marian L.;
Holmans, Peter A.;
Avramopoulos, Dimitrios;
Bassett, Susan S.;
Blacker, Deborah;
Bertram, Lars;
Wiener, Howard;
Rochberg, Nan;
Tanzi, Rudolph E.;
Myers, Amanda;
Wavrant-De Vrièze, Fabienne;
Go, Rodney;
Fallin, Daniele;
Lovestone, Simon;
Hardy, John;
Goate, Alison;
O'Donovan, Michael;
Williams, Julie;
Owen, Michael J.

Publication type:

Article

Preservation of gray matter volume in multiple sclerosis patients with the Met allele of the rs6265 (Val66Met) SNP of brain-derived neurotrophic factor.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2659, doi. 10.1093/hmg/ddm189

By:

Zivadinov, Robert;
Weinstock-Guttman, Bianca;
Benedict, Ralph;
Tamaño-Blanco, Miriam;
Hussein, Sara;
Abdelrahman, Nadir;
Durfee, Jackie;
Ramanathan, Murali

Publication type:

Article

Optimal design of oligonucleotide microarrays for measurement of DNA copy-number.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2770, doi. 10.1093/hmg/ddm234

By:

Sharp, Andrew J.;
Itsara, Andy;
Cheng, Ze;
Alkan, Can;
Schwartz, Stuart;
Eichler, Evan E.

Publication type:

Article

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Identification of polymorphic antioxidant response elements in the human genome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2780, doi. 10.1093/hmg/ddm228

By:

Wang, Xuting;
Tomso, Daniel J.;
Chorley, Brain N.;
Cho, Hye-Youn;
Cheung, Vivian G.;
Kleeberger, Steven R.;
Bell, Douglas A.

Publication type:

Article

A functional polymorphism of the Gαq (GNAQ) gene is associated with accelerated mortality in African-American heart failure.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2740, doi. 10.1093/hmg/ddm229

By:

Liggett, Stephen B.;
Kelly, Reagan J.;
Parekh, Rohan R.;
Matkovich, Scot J.;
Benner, Bonnie J.;
Hahn, Harvey S.;
Syed, Faisal M.;
Galvez, Anita S.;
Case, Karen L.;
McGuire, Nancy;
Odley, Amy M.;
Sparks, Li;
Kardia, Sharon L.R.;
Dorn, Gerald W.

Publication type:

Article

Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2781, doi. 10.1093/hmg/ddm230

By:

Kratz, Christian P.;
Steinemann, Doris;
Niemeyer, Charlotte M.;
Schlegelberger, Brigitte;
Koscielniak, Ewa;
Kontny, Udo;
Zenker, Martin

Publication type:

Article

Frataxin is essential for extramitochondrial Fe–S cluster proteins in mammalian tissues.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2651, doi. 10.1093/hmg/ddm163

By:

Martelli, Alain;
Wattenhofer-Donzé, Marie;
Schmucker, Stéphane;
Bouvet, Samuel;
Reutenauer, Laurence;
Puccio, Hélène

Publication type:

Article

The DNA polymerase γ Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2′-deoxyguanosine.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 22, p. 2729, doi. 10.1093/hmg/ddm227

By:

Graziewicz, Maria A.;
Bienstock, Rachelle J.;
Copeland, William C.

Publication type:

Article