Human Molecular Genetics

ARTICLES:

Sara Pich, Daniel Bach, Paz Briones, Marc Liesa, Marta Camps, Xavier Testar, Manuel Palacín, and Antonio Zorzano

The Charcot–Marie–Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1405-1415; doi:10.1093/hmg/ddi149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Manuel Pelé, Laurent Tiret, Jean-Louis Kessler, Stéphane Blot, and Jean-Jacques Panthier

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1417-1427; doi:10.1093/hmg/ddi151 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Hind Guenou, Karim Kaabeche, Sandrine Le Mée, and Pierre J. Marie

A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre–Chotzen syndrome
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1429-1439; doi:10.1093/hmg/ddi152 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Adèle Faucherre, Pierrette Desbois, Fumiko Nagano, Véronique Satre, Joël Lunardi, Gérard Gacon, and Olivier Dorseuil

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1441-1448; doi:10.1093/hmg/ddi153 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sepideh Zareparsi, Monika Buraczynska, Kari E.H. Branham, Sapna Shah, Donna Eng, Mingyao Li, Hemant Pawar, Beverly M. Yashar, Sayoko E. Moroi, Paul R. Lichter, Howard R. Petty, Julia E. Richards, Gonçalo R. Abecasis, Victor M. Elner, and Anand Swaroop

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1449-1455; doi:10.1093/hmg/ddi154 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kristin A. Waite, Michelle R. Sinden, and Charis Eng

Phytoestrogen exposure elevates PTEN levels
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1457-1463; doi:10.1093/hmg/ddi155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ming-De Yan, Chih-Chen Hong, Gi-Ming Lai, Ann-Lii Cheng, Ya-Wen Lin, and Shuang-En Chuang

Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1465-1474; doi:10.1093/hmg/ddi156 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa Mee, Heli Honkala, Outi Kopra, Jouni Vesa, Saara Finnilä, Ilona Visapää, Tzu-Kang Sang, George R. Jackson, Riitta Salonen, Marjo Kestilä, and Leena Peltonen

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1475-1488; doi:10.1093/hmg/ddi157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, Enrico Lucarelli, Veena K. Parnaik, Giuseppe Novelli, Manfred Wehnert, Vittoria Cenni, Nadir M. Maraldi, Stefano Squarzoni, and Giovanna Lattanzi

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1489-1502; doi:10.1093/hmg/ddi158 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Claire L. Navarro, Juan Cadiñanos, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, Jose M. Freije, Pierre Cau, Raoul C.M. Hennekam, Carlos López-Otín, Catherine Badens, and Nicolas Lévy

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1503-1513; doi:10.1093/hmg/ddi159 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Yingben Xue, Andrew C. Karaplis, Geoffrey N. Hendy, David Goltzman, and Dengshun Miao

Genetic models show that parathyroid hormone and 1,25-dihydroxyvitamin D₃ play distinct and synergistic roles in postnatal mineral ion homeostasis and skeletal development
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1515-1528; doi:10.1093/hmg/ddi160 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nakisa Nowroozi, Simona Raffioni, Tracy Wang, Barbara L. Apostol, Ralph A. Bradshaw, and Leslie Michels Thompson

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1529-1538; doi:10.1093/hmg/ddi161 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Thai H. Ho, Donnie Bundman, Dawna L. Armstrong, and Thomas A. Cooper

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1539-1547; doi:10.1093/hmg/ddi162 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sarah E. Owens, Karl W. Broman, Tim Wiltshire, J. Bradford Elmore, Kevin M. Bradley, Jeffrey R. Smith, and E. Michelle Southard-Smith

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10^Dom model of Hirschsprung disease
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1549-1558; doi:10.1093/hmg/ddi163 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Guy Kol, Galit Lev-Maor, and Gil Ast

Human–mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation
Human Molecular Genetics Advance Access published on April 27, 2005
Hum. Mol. Genet. 2005 14: 1559-1568; doi:10.1093/hmg/ddi164 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Simon C. Warby, Edmond Y. Chan, Martina Metzler, Lu Gan, Roshni R. Singaraja, Susan F. Crocker, Harold A. Robertson, and Michael R. Hayden

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo
Human Molecular Genetics Advance Access published on April 20, 2005
Hum. Mol. Genet. 2005 14: 1569-1577; doi:10.1093/hmg/ddi165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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