Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 14

Results: 17

MeCP2 in neurons: closing in on the causes of Rett Syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2089, doi. 10.1093/hmg/ddi213

By:

Caballero, Isabel Martín;
Hendrich, Brian

Publication type:

Article

A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2075, doi. 10.1093/hmg/ddi212

By:

Wang, Zihua;
Wang, Baoshuang;
Tang, Kun;
Lee, Edmund J.D.;
Chong, Samuel S.;
Lee, Caroline G.L.

Publication type:

Article

Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2063, doi. 10.1093/hmg/ddi211

By:

Zhang, Li;
Shimoji, Mika;
Thomas, Bobby;
Moore, Darren J.;
Yu, Seong-Woon;
Marupudi, Neena I.;
Torp, Reidun;
Torgner, Ingeborg A.;
Ottersen, Ole P.;
Dawson, Ted M.;
Dawson, Valina L.

Publication type:

Article

Foxl2 is required for commitment to ovary differentiation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2053, doi. 10.1093/hmg/ddi210

By:

Ottolenghi, Chris;
Omari, Shakib;
Garcia-Ortiz, J. Elias;
Uda, Manuela;
Crisponi, Laura;
Forabosco, Antonino;
Pilia, Giuseppe;
Schlessinger, David

Publication type:

Article

Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2045, doi. 10.1093/hmg/ddi209

By:

Aldred, Patricia M.R.;
Hollox, Edward J.;
Armour, John A.L.

Publication type:

Article

Identification of quantitative trait loci controlling cortical motor evoked potentials in experimental autoimmune encephalomyelitis: correlation with incidence, onset and severity of disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1977

By:

Mazón Peláez, Ignacio;
Vogler, Susanne;
Strauss, Ulf;
Wernhoff, Patrik;
Pahnke, Jens;
Brockmann, Gudrun;
Moch, Holger;
Thiesen, Hans-Juergen;
Rolfs, Arndt;
Ibrahim, Saleh M.

Publication type:

Article

AP-2α selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2027, doi. 10.1093/hmg/ddi207

By:

Lim, Jae H.;
Booker, Anne B.;
Luo, Ting;
Williams, Trevor;
Furuta, Yasuhide;
Lagutin, Oleg;
Oliver, Guillermo;
Sargent, Thomas D.;
Fallon, Justin R.

Publication type:

Article

Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2019, doi. 10.1093/hmg/ddi206

By:

Dyment, David A.;
Herrera, Blanca M.;
Cader, M. Zameel;
Willer, Cristen J.;
Lincoln, Matthew R.;
Sadovnick, A. Dessa;
Risch, Neil;
Ebers, George C.

Publication type:

Article

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1935, doi. 10.1093/hmg/ddi198

By:

Mari, Francesca;
Azimonti, Sara;
Bertani, Ilaria;
Bolognese, Fabrizio;
Colombo, Elena;
Caselli, Rossella;
Scala, Elisa;
Longo, Ilaria;
Grosso, Salvatore;
Pescucci, Chiara;
Ariani, Francesca;
Hayek, Giuseppe;
Balestri, Paolo;
Bergo, Anna;
Badaracco, Gianfranco;
Zappella, Michele;
Broccoli, Vania;
Renieri, Alessandra;
Kilstrup-Nielsen, Charlotte;
Landsberger, Nicoletta

Publication type:

Article

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2003, doi. 10.1093/hmg/ddi205

By:

Jarecki, Jill;
Chen, Xiaocun;
Bernardino, Alexandra;
Coovert, Daniel D.;
Whitney, Michael;
Burghes, Arthur;
Stack, Jeffrey;
Pollok, Brian A.

Publication type:

Article

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 2035, doi. 10.1093/hmg/ddi208

By:

Gonzales, Bianca;
Henning, Dale;
So, Rolando B.;
Dixon, Jill;
Dixon, Michael J.;
Valdez, Benigno C.

Publication type:

Article

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1965, doi. 10.1093/hmg/ddi202

By:

Inga, Alberto;
Reamon-Buettner, Stella Marie;
Borlak, Juergen;
Resnick, Michael A.

Publication type:

Article

Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1955, doi. 10.1093/hmg/ddi200

By:

Veltman, Imke M.;
Vreede, Lilian A.;
Cheng, Jinke;
Looijenga, Leendert H.J.;
Janssen, Bert;
Schoenmakers, Eric F.P.M.;
Yeh, Edward T.H.;
van Kessel, Ad Geurts

Publication type:

Article

Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1947, doi. 10.1093/hmg/ddi199

By:

Bray, Nicholas J.;
Preece, Anna;
Williams, Nigel M.;
Moskvina, Valentina;
Buckland, Paul R.;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1991, doi. 10.1093/hmg/ddi204

By:

Conley, Yvette P.;
Thalamuthu, Anbupalam;
Jakobsdottir, Johanna;
Weeks, Daniel E.;
Mah, Tammy;
Ferrell, Robert E.;
Gorin, Michael B.

Publication type:

Article

Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1921, doi. 10.1093/hmg/ddi197

By:

Wehling-Henricks, Michelle;
Jordan, Maria C.;
Roos, Kenneth P.;
Deng, Bo;
Tidball, James G.

Publication type:

Article

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 14, p. 1907, doi. 10.1093/hmg/ddi196

By:

Luoma, Petri T.;
Luo, Ningguang;
Löscher, Wolfgang N.;
Farr, Carol L.;
Horvath, Rita;
Wanschitz, Julia;
Kiechl, Stefan;
Kaguni, Laurie S.;
Suomalainen, Anu

Publication type:

Article