Human Molecular Genetics

ARTICLES

Get checked abstract Layla Parker-Katiraee, Eleni Bousiaki, David Monk, Gudrun E. Moore, Kazuhiko Nakabayashi, and Stephen W. Scherer

Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues
Human Molecular Genetics Advance Access published on August 4, 2008
Hum. Mol. Genet. 2008 17: 3263-3270; doi:10.1093/hmg/ddn222 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Irina Kramerova, Elena Kudryashova, Benjamin Wu, Coen Ottenheijm, Henk Granzier, and Melissa J. Spencer

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle
Human Molecular Genetics Advance Access published on August 1, 2008
Hum. Mol. Genet. 2008 17: 3271-3280; doi:10.1093/hmg/ddn223 [Abstract] [Full Text] [PDF] [Request Permissions]  

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

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities
Human Molecular Genetics Advance Access published on August 2, 2008
Hum. Mol. Genet. 2008 17: 3281-3290; doi:10.1093/hmg/ddn224 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

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

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
Human Molecular Genetics Advance Access published on August 4, 2008
Hum. Mol. Genet. 2008 17: 3291-3302; doi:10.1093/hmg/ddn225 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hibiki Kawamata and Giovanni Manfredi

Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria
Human Molecular Genetics Advance Access published on August 13, 2008
Hum. Mol. Genet. 2008 17: 3303-3317; doi:10.1093/hmg/ddn226 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Dale R. Nyholt, K. Steven LaForge, Mikko Kallela, Kirsi Alakurtti, Verneri Anttila, Markus Färkkilä, Eija Hämaläinen, Jaakko Kaprio, Mari A. Kaunisto, Andrew C. Heath, Grant W. Montgomery, Hartmut Göbel, Unda Todt, Michel D. Ferrari, Lenore J. Launer, Rune R. Frants, Gisela M. Terwindt, Boukje de Vries, W.M. Monique Verschuren, Jan Brand, Tobias Freilinger, Volker Pfaffenrath, Andreas Straube, Dennis G. Ballinger, Yiping Zhan, Mark J. Daly, David R. Cox, Martin Dichgans, Arn M.J.M. van den Maagdenberg, Christian Kubisch, Nicholas G. Martin, Maija Wessman, Leena Peltonen, and Aarno Palotie

A high-density association screen of 155 ion transport genes for involvement with common migraine
Human Molecular Genetics Advance Access published on August 2, 2008
Hum. Mol. Genet. 2008 17: 3318-3331; doi:10.1093/hmg/ddn227 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Chun-Hung Chan, Hannah M. Mitchison, and David A. Pearce

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models
Human Molecular Genetics Advance Access published on August 4, 2008
Hum. Mol. Genet. 2008 17: 3332-3339; doi:10.1093/hmg/ddn228 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Dan Zou, Christopher Erickson, Eun-Hee Kim, Dongzhu Jin, Bernd Fritzsch, and Pin-Xian Xu

Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear
Human Molecular Genetics Advance Access published on August 4, 2008
Hum. Mol. Genet. 2008 17: 3340-3356; doi:10.1093/hmg/ddn229 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Nan Zhong and Jin Xu

Synergistic activation of the human MnSOD promoter by DJ-1 and PGC-1: regulation by SUMOylation and oxidation
Human Molecular Genetics Advance Access published on August 8, 2008
Hum. Mol. Genet. 2008 17: 3357-3367; doi:10.1093/hmg/ddn230 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

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

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice
Human Molecular Genetics Advance Access published on August 5, 2008
Hum. Mol. Genet. 2008 17: 3368-3379; doi:10.1093/hmg/ddn231 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Johanna Pispa, Marja Pummila, Philip A. Barker, Irma Thesleff, and Marja L. Mikkola

Edar and Troy signalling pathways act redundantly to regulate initiation of hair follicle development
Human Molecular Genetics Advance Access published on August 9, 2008
Hum. Mol. Genet. 2008 17: 3380-3391; doi:10.1093/hmg/ddn232 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

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

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations
Human Molecular Genetics Advance Access published on August 7, 2008
Hum. Mol. Genet. 2008 17: 3392-3398; doi:10.1093/hmg/ddn233 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Michael P. Walker, T.K. Rajendra, Luciano Saieva, Jennifer L. Fuentes, Livio Pellizzoni, and A. Gregory Matera

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
Human Molecular Genetics Advance Access published on August 8, 2008
Hum. Mol. Genet. 2008 17: 3399-3410; doi:10.1093/hmg/ddn234 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

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

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction
Human Molecular Genetics Advance Access published on August 12, 2008
Hum. Mol. Genet. 2008 17: 3426-3434; doi:10.1093/hmg/ddn236 [Abstract] [Full Text] [PDF] [Request Permissions]  

CORRIGENDUM

David J. Lloyd, Sandy Bohan, and Nicholas Gekakis

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice
Hum. Mol. Genet. 2008 17: 3435; doi:10.1093/hmg/ddn254 [Extract] [Full Text] [PDF] [Request Permissions]  

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

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
Human Molecular Genetics Advance Access published on September 23, 2008
Hum. Mol. Genet. 2008 17: 3436; doi:10.1093/hmg/ddn259 [Extract] [Full Text] [PDF] [Request Permissions]  

FRONT-MATTER/BACK-MATTER

Cover Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn328 [PDF] [Request Permissions]  

Editorial Board
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn329 [PDF] [Request Permissions]  

Subscription Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn330 [PDF] [Request Permissions]  

Contents Page
Hum. Mol. Genet. 2008 17: NP; doi:10.1093/hmg/ddn331 [PDF] [Request Permissions]  

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