Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 1

Results: 14

Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 137

By:

Russell, Andrew I.;
Cunninghame Graham, Deborah S.;
Shepherd, Christopher;
Roberton, Cheri A.;
Whittaker, John;
Meeks, John;
Powell, Richard J.;
Isenberg, David A.;
Walport, Mark J.;
Vyse, Timothy J.

Publication type:

Article

Parkin is recruited into aggresomes in a stress-specific manner: over-expression of parkin reduces aggresome formation but can be dissociated from parkin's effect on neuronal survival.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 117

By:

Muqit, Miratul M.K.;
Davidson, Sean M.;
Payne Smith, Martin D.;
MacCormac, Luci P.;
Kahns, Soren;
Jensen, Poul H.;
Wood, Nicholas W.;
Latchman, David S.

Publication type:

Article

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 69

By:

Ibrahimi, Omar A.;
Zhang, Fuming;
Eliseenkova, Anna V.;
Linhardt, Robert J.;
Mohammadi, Moosa

Publication type:

Article

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 91

By:

Nishigaki, Yutaka;
Martí, Ramon;
Hirano, Michio

Publication type:

Article

Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 35, doi. 10.1093/hmg/ddh008

By:

Karban, Amir S.;
Okazaki, Toshihiko;
Panhuysen, Carolien I.M.;
Gallegos, Thomas;
Potter, James J.;
Bailey-Wilson, Joan E.;
Silverberg, Mark S.;
Duerr, Richard H.;
Cho, Judy H.;
Gregersen, Peter K.;
Wu, Yuqiong;
Achkar, Jean-Paul;
Dassopoulos, Themistocles;
Mezey, Esteban;
Bayless, Theodore M.;
Nouvet, Franklin J.;
Brant, Steven R.

Publication type:

Article

Developmentally-programmed FMRP expression in oligodendrocytes: a potential role of FMRP in regulating translation in oligodendroglia progenitors.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 79

By:

Wang, Houping;
Ku, Li;
Osterhout, Donna J.;
Li, Wen;
Ahmadian, Amir;
Liang, Zhe;
Feng, Yue

Publication type:

Article

Transgenic overexpression of caveolin-3 in the heart induces a cardiomyopathic phenotype.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 149

By:

Aravamudan, Bharathi;
Volonte, Daniela;
Ramani, Ravi;
Gursoy, Erdal;
Lisanti, Michael P.;
London, Barry;
Galbiati, Ferruccio

Publication type:

Article

Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 15

By:

Narang, Monica A.;
Dumas, Richard;
Ayer, Linda M.;
Gravel, Roy A.

Publication type:

Article

Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 53

By:

Chen, Shiming;
Peng, Guang-Hua;
Wang, Xuejiao;
Smith, Annette C.;
Grote, Sara K.;
Sopher, Bryce L.;
La Spada, Albert R.

Publication type:

Article

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 103, doi. 10.1093/hmg/ddh004

By:

Gotter, Anthony L.;
Shaikh, Tamim H.;
Budarf, Marcia L.;
Rhodes, C. Harker;
Emanuel, Beverly S.

Publication type:

Article

Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 7

By:

Cogram, Patricia;
Hynes, Andrew;
Dunlevy, Louisa P.E.;
Greene, Nicholas D.E.;
Copp, Andrew J.

Publication type:

Article

Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 1

By:

Rihet, Pascal;
Flori, Laurence;
Tall, François;
Traoré, Alfred S.;
Fumoux, Francis

Publication type:

Article

Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 25

By:

Tenesa, A.;
Wright, A.F.;
Knott, S.A.;
Carothers, A.D.;
Hayward, C.;
Angius, A.;
Persico, I.;
Maestrale, G.;
Hastie, N.D.;
Pirastu, M.;
Visscher, P.M.

Publication type:

Article

Glucocorticoid-related genetic susceptibility for Alzheimer's disease.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 1, p. 47

By:

de Quervain, Dominique J.-F.;
Poirier, Raphael;
Wollmer, M. Axel;
Grimaldi, Luigi M.E.;
Tsolaki, Magdalini;
Streffer, Johannes R.;
Hock, Christoph;
Nitsch, Roger M.;
Mohajeri, M. Hasan;
Papassotiropoulos, Andreas

Publication type:

Article