Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 8

Results: 9

Gene-specific timing and epigenetic memory in oocyte imprinting.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 839, doi. 10.1093/hmg/ddh104

By:

Lucifero, Diana;
Mann, Mellissa R.W.;
Bartolomei, Marisa S.;
Trasler, Jacquetta M.

Publication type:

Article

The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 869, doi. 10.1093/hmg/ddh103

By:

Mattiazzi, Marina;
Vijayvergiya, Chetan;
Gajewski, Carl D.;
DeVivo, Darryl C.;
Lenaz, Giorgio;
Wiedmann, Martin;
Manfredi, Giovanni

Publication type:

Article

Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 851, doi. 10.1093/hmg/ddh102

By:

Oravecz-Wilson, Katherine I.;
Kiel, Mark J.;
Li, Lina;
Rao, Dinesh S.;
Saint-Dic, Djenann;
Kumar, Priti D.;
Provot, Melissa M.;
Hankenson, Kurt D.;
Reddy, Venkat N.;
Lieberman, Andrew P.;
Morrison, Sean J.;
Ross, Theodora S.

Publication type:

Article

Oculopharyngeal muscular dystrophy-like nuclear inclusions are present in normal magnocellular neurosecretory neurons of the hypothalamus.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 829, doi. 10.1093/hmg/ddh101

By:

Berciano, Maria T.;
Villagra, Nuria T.;
Ojeda, Jose L.;
Navascues, Joaquin;
Gomes, Anita;
Lafarga, Miguel;
Carmo-Fonseca, Maria

Publication type:

Article

A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 881, doi. 10.1093/hmg/ddh100

By:

Pawlikowska, Ludmila;
Groen, Annemiek;
Eppens, Elaine F.;
Kunne, Cindy;
Ottenhoff, Roelof;
Looije, Norbert;
Knisely, A.S.;
Killeen, Nigel P.;
Bull, Laura N.;
Elferink, Ronald P.J. Oude;
Freimer, Nelson B.

Publication type:

Article

Genomic evidence for recent positive selection at the human MDR1 gene locus.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 783, doi. 10.1093/hmg/ddh099

By:

Tang, Kun;
Wong, Li Peng;
Lee, Edmund J.D.;
Chong, Samuel S.;
Lee, Caroline G.L.

Publication type:

Article

Tissue-specific imprinting of the G protein Gsα is associated with tissue-specific differences in histone methylation.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 819, doi. 10.1093/hmg/ddh098

By:

Sakamoto, Akio;
Liu, Jie;
Greene, Andrew;
Chen, Min;
Weinstein, Lee S.

Publication type:

Article

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 799, doi. 10.1093/hmg/ddh096

By:

Einarsdottir, Elisabet;
Carlsson, Anna;
Minde, Jan;
Toolanen, Göran;
Svensson, Olle;
Solders, Göran;
Holmgren, Gösta;
Holmberg, Dan;
Holmberg, Monica

Publication type:

Article

BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 8, p. 807, doi. 10.1093/hmg/ddh095

By:

Morris, Joanna R.;
Solomon, Ellen

Publication type:

Article