Works in Human Molecular Genetics, 2008, Vol 17, Issue 21

Results: 21

Subscription Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 21, p. NP, doi. 10.1093/hmg/ddn330
Publication type:: Article

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3435, doi. 10.1093/hmg/ddn254

By:

Lloyd, David J.;
Bohan, Sandy;
Gekakis, Nicholas

Publication type:

Article

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3332, doi. 10.1093/hmg/ddn228

By:

Chan, Chun-Hung;
Mitchison, Hannah M.;
Pearce, David A.

Publication type:

Article

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3271, doi. 10.1093/hmg/ddn223

By:

Kramerova, Irina;
Kudryashova, Elena;
Wu, Benjamin;
Ottenheijm, Coen;
Granzier, Henk;
Spencer, Melissa J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 21, p. NP, doi. 10.1093/hmg/ddn331
Publication type:: Article

Human neural crest cells display molecular and phenotypic hallmarks of stem cells.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3411, doi. 10.1093/hmg/ddn235

By:

Thomas, Sophie;
Thomas, Marie;
Wincker, Patrick;
Babarit, Candice;
Xu, Puting;
Speer, Marcy C.;
Munnich, Arnold;
Lyonnet, Stanislas;
Vekemans, Michel;
Etchevers, Heather C.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 21, p. NP, doi. 10.1093/hmg/ddn328
Publication type:: Article

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3392, doi. 10.1093/hmg/ddn233

By:

Cronin, Simon;
Blauw, Hylke M.;
Veldink, Jan H.;
van Es, Michael A.;
Ophoff, Roel A.;
Bradley, Daniel G.;
van den Berg, Leonard H.;
Hardiman, Orla

Publication type:

Article

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3426, doi. 10.1093/hmg/ddn236

By:

Robertson, Nahid G.;
Jones, Sherri M.;
Sivakumaran, Theru A.;
Giersch, Anne B.S.;
Jurado, Sara A.;
Call, Linda M.;
Miller, Constance E.;
Maison, Stéphane F.;
Liberman, M. Charles;
Morton, Cynthia C.

Publication type:

Article

Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3380, doi. 10.1093/hmg/ddn232

By:

Pispa, Johanna;
Pummila, Marja;
Barker, Philip A.;
Thesleff, Irma;
Mikkola, Marja L.

Publication type:

Article

A high-density association screen of 155 ion transport genes for involvement with common migraine.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3318, doi. 10.1093/hmg/ddn227

By:

Nyholt, Dale R.;
LaForge, K. Steven;
Kallela, Mikko;
Alakurtti, Kirsi;
Anttila, Verneri;
Färkkilä, Markus;
Hämaläinen, Eija;
Kaprio, Jaakko;
Kaunisto, Mari A.;
Heath, Andrew C.;
Montgomery, Grant W.;
Göbel, Hartmut;
Todt, Unda;
Ferrari, Michel D.;
Launer, Lenore J.;
Frants, Rune R.;
Terwindt, Gisela M.;
de Vries, Boukje;
Verschuren, W.M. Monique;
Brand, Jan

Publication type:

Article

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3436, doi. 10.1093/hmg/ddn259

By:

Geier, Christian;
Gehmlich, Katja;
Ehler, Elisabeth;
Hassfeld, Sabine;
Perrot, Andreas;
Hayess, Katrin;
Cardim, Nuno;
Wenzel, Katrin;
Erdmann, Bettina;
Krackhardt, Florian;
Posch, Maximilian G.;
Osterziel, Karl J.;
Bublak, Angelika;
Nägele, Herbert;
Scheffold, Thomas;
Dietz, Rainer;
Chien, Kenneth R.;
Spuler, Simone;
Fürst, Dieter O.;
Nürnberg, Peter

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2008, v. 17, n. 21, p. NP, doi. 10.1093/hmg/ddn329
Publication type:: Article

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3291, doi. 10.1093/hmg/ddn225

By:

Spinazzi, Marco;
Cazzola, Silvia;
Bortolozzi, Mario;
Baracca, Alessandra;
Loro, Emanuele;
Casarin, Alberto;
Solaini, Giancarlo;
Sgarbi, Gianluca;
Casalena, Gabriella;
Cenacchi, Giovanna;
Malena, Adriana;
Frezza, Christian;
Carrara, Franco;
Angelini, Corrado;
Scorrano, Luca;
Salviati, Leonardo;
Vergani, Lodovica

Publication type:

Article

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3303, doi. 10.1093/hmg/ddn226

By:

Kawamata, Hibiki;
Manfredi, Giovanni

Publication type:

Article

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3368, doi. 10.1093/hmg/ddn231

By:

Jiang, Si-Tse;
Chiou, Yuan-Yow;
Wang, Ellian;
Lin, Hsiu-Kuan;
Lee, Sue-Ping;
Lu, Hsin-Yi;
Wang, Chi-Kuang Leo;
Tang, Ming-Jer;
Li, Hung

Publication type:

Article

Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3263, doi. 10.1093/hmg/ddn222

By:

Parker-Katiraee, Layla;
Bousiaki, Eleni;
Monk, David;
Moore, Gudrun E.;
Nakabayashi, Kazuhiko;
Scherer, Stephen W.

Publication type:

Article

Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3340, doi. 10.1093/hmg/ddn229

By:

Zou, Dan;
Erickson, Christopher;
Kim, Eun-Hee;
Jin, Dongzhu;
Fritzsch, Bernd;
Xu, Pin-Xian

Publication type:

Article

Synergistic activation of the human MnSOD promoter by DJ-1 and PGC-1α: regulation by SUMOylation and oxidation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3357, doi. 10.1093/hmg/ddn230

By:

Zhong, Nan;
Xu, Jin

Publication type:

Article

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3281, doi. 10.1093/hmg/ddn224

By:

Yu, Yong;
Chu, Po-Yin;
Bowser, David N.;
Keating, Damien J.;
Dubach, Daphne;
Harper, Ian;
Tkalcevic, Josephine;
Finkelstein, David I.;
Pritchard, Melanie A.

Publication type:

Article

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 21, p. 3399, doi. 10.1093/hmg/ddn234

By:

Walker, Michael P.;
Rajendra, T.K.;
Saieva, Luciano;
Fuentes, Jennifer L.;
Pellizzoni, Livio;
Matera, A. Gregory

Publication type:

Article