Works in Human Molecular Genetics, 2005, Vol 14, Issue 9

Results: 12

The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1231, doi. 10.1093/hmg/ddi134

By:

Xu, Jin;
Zhong, Nan;
Wang, Haoyong;
Elias, Joshua E.;
Kim, Christina Y.;
Woldman, Irina;
Pifl, Christian;
Gygi, Steven P.;
Geula, Changiz;
Yankner, Bruce A.

Publication type:

Article

Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1221, doi. 10.1093/hmg/ddi133

By:

Qin, Yangjun;
Bishop, Colin E.

Publication type:

Article

Ethnic- and gender-specific association of the nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) with nicotine dependence.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1211, doi. 10.1093/hmg/ddi132

By:

Li, Ming D.;
Beuten, Joke;
Ma, Jennie Z.;
Payne, Thomas J.;
Lou, Xiang-Yang;
Garcia, Veronica;
Duenes, Aristeo S.;
Crews, Karen M.;
Elston, Robert C.

Publication type:

Article

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1199, doi. 10.1093/hmg/ddi131

By:

Wolstencroft, Elizabeth C.;
Mattis, Virginia;
Bajer, Anna A.;
Young, Philip J.;
Lorson, Christian L.

Publication type:

Article

The role of histone acetylation in SMN gene expression.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1171, doi. 10.1093/hmg/ddi130

By:

Kernochan, Lauren E.;
Russo, Melissa L.;
Woodling, Nathaniel S.;
Huynh, Thanh N.;
Avila, Amy M.;
Fischbeck, Kenneth H.;
Sumner, Charlotte J.

Publication type:

Article

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1183, doi. 10.1093/hmg/ddi129

By:

Shu, X.;
Fry, A.M.;
Tulloch, B.;
Manson, F.D.C.;
Crabb, J.W.;
Khanna, H.;
Faragher, A.J.;
Lennon, A.;
He, S.;
Trojan, P.;
Giessl, A.;
Wolfrum, U.;
Vervoort, R.;
Swaroop, A.;
Wright, A.F.

Publication type:

Article

Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1161, doi. 10.1093/hmg/ddi128

By:

Sun, Xi-Ming;
Eden, Emily R.;
Tosi, Isabella;
Neuwirth, Clare K.;
Wile, David;
Naoumova, Rossi P.;
Soutar, Anne K.

Publication type:

Article

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1153, doi. 10.1093/hmg/ddi127

By:

Logié, Armelle;
Dunois-Lardé, Claire;
Rosty, Christophe;
Levrel, Olivier;
Blanche, Martine;
Ribeiro, Agnès;
Gasc, Jean-Marie;
Jorcano, Jose;
Werner, Sabine;
Sastre-Garau, Xavier;
Thiery, Jean Paul;
Radvanyi, François

Publication type:

Article

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1139, doi. 10.1093/hmg/ddi126

By:

Matzner, Ulrich;
Herbst, Eva;
Hedayati, Kerstin Khalaj;
Lüllmann-Rauch, Renate;
Wessig, Carsten;
Schröder, Stephan;
Eistrup, Carl;
Möller, Christer;
Fogh, Jens;
Gieselmann, Volkmar

Publication type:

Article

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1127, doi. 10.1093/hmg/ddi125

By:

Oezen, Iris;
Rossmanith, Walter;
Forss-Petter, Sonja;
Kemp, Stephan;
Voigtländer, Till;
Moser-Thier, Karin;
Wanders, Ronald J.;
Bittner, Reginald E.;
Berger, Johannes

Publication type:

Article

Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1109, doi. 10.1093/hmg/ddi123

By:

Fath, Melissa A.;
Mullins, Robert F.;
Searby, Charles;
Nishimura, Darryl Y.;
Wei, Jun;
Rahmouni, Kamal;
Davis, Roger E.;
Tayeh, Marwan K.;
Andrews, Michael;
Yang, Baoli;
Sigmund, Curt D.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Inferring gene transcriptional modulatory relations: a genetical genomics approach.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1119, doi. 10.1093/hmg/ddi124

By:

Li, Hongqiang;
Lu, Lu;
Manly, Kenneth F.;
Chesler, Elissa J.;
Bao, Lei;
Wang, Jintao;
Zhou, Mi;
Williams, Robert W.;
Cui, Yan

Publication type:

Article