Human Molecular Genetics

ARTICLES:

Chee Yeun Chung, Hyemyung Seo, Kai Christian Sonntag, Andrew Brooks, Ling Lin, and Ole Isacson

Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1709-1725; doi:10.1093/hmg/ddi178 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Susan J. Nixon, Jeremy Wegner, Charles Ferguson, Pierre-François Méry, John F. Hancock, Peter D. Currie, Brian Key, Monte Westerfield, and Robert G. Parton

Zebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1727-1743; doi:10.1093/hmg/ddi179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hsiang-Yu Yuan, Jin-Jer Chen, M.T. Michael Lee, Ju-Chieh Wung, Ying-Fu Chen, Min-Ji Charng, Ming-Jen Lu, Chi-Ren Hung, Chun-Yu Wei, Chien-Hsiun Chen, Jer-Yuarn Wu, and Yuan-Tsong Chen

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1745-1751; doi:10.1093/hmg/ddi180 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marc Cruts, Rosa Rademakers, Ilse Gijselinck, Julie van der Zee, Bart Dermaut, Tim de Pooter, Peter de Rijk, Jurgen Del-Favero, and Christine van Broeckhoven

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1753-1762; doi:10.1093/hmg/ddi182 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Theo G.M.F. Gorgels, Xiaofeng Hu, George L. Scheffer, Allard C. van der Wal, Johan Toonstra, Paulus T.V.M. de Jong, Toin H. van Kuppevelt, Christiaan N. Levelt, Anneke de Wolf, Willem J.P. Loves, Rik J. Scheper, Ron Peek, and Arthur A.B. Bergen

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1763-1773; doi:10.1093/hmg/ddi183 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicole Hance, Mats I. Ekstrand, and Aleksandra Trifunovic

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1775-1783; doi:10.1093/hmg/ddi184 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennie N. Jeyapalan, Helen Varley, Jenny L. Foxon, Raphael E. Pollock, Alec J. Jeffreys, Jeremy D. Henson, Roger R. Reddel, and Nicola J. Royle

Activation of the ALT pathway for telomere maintenance can affect other sequences in the human genome
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1785-1794; doi:10.1093/hmg/ddi185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hilde Van Esch, Karen Hollanders, Liesbeth Badisco, Cindy Melotte, Paul Van Hummelen, Joris Robert Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen, and Guy Froyen

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1795-1803; doi:10.1093/hmg/ddi186 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephen J. Newhouse, Chris Wallace, Richard Dobson, Charles Mein, Janine Pembroke, Martin Farrall, David Clayton, Morris Brown, Nilesh Samani, Anna Dominiczak, John M. Connell, John Webster, G. Mark Lathrop, Mark Caulfield, and Patricia B. Munroe

Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1805-1814; doi:10.1093/hmg/ddi187 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tiziana Bachetti, Ivana Matera, Silvia Borghini, Marco Di Duca, Roberto Ravazzolo, and Isabella Ceccherini

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1815-1824; doi:10.1093/hmg/ddi188 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rocio Ruiz, John Lin, Alison Forgie, Davide Foletti, David Shelton, Arnon Rosenthal, and Lucia Tabares

Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1825-1837; doi:10.1093/hmg/ddi189 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catherine Wilson, Shelley Idziaszczyk, Lee Parry, Carol Guy, David F.R. Griffiths, Edward Lazda, Rosemary A.L. Bayne, Andrew J.H. Smith, Julian R. Sampson, and Jeremy P. Cheadle

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1839-1850; doi:10.1093/hmg/ddi190 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catherine M. Watson, Gregory J. Pelka, Tatiana Radziewic, Mona D. Shahbazian, John Christodoulou, Sarah L. Williamson, and Patrick P.L. Tam

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2³⁰⁸ allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1851-1861; doi:10.1093/hmg/ddi191 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Andrew D. Strand, Aaron K. Aragaki, Dennis Shaw, Thomas Bird, Janice Holton, Christopher Turner, Stephen J. Tapscott, Sarah J. Tabrizi, Anthony H. Schapira, Charles Kooperberg, and James M. Olson

Gene expression in Huntington's disease skeletal muscle: a potential biomarker
Human Molecular Genetics Advance Access published on May 11, 2005
Hum. Mol. Genet. 2005 14: 1863-1876; doi:10.1093/hmg/ddi192 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Elizabeth O'Connor, Birgit Eisenhaber, Jane Dalley, Tao Wang, Caroline Missen, Neil Bulleid, Paul N. Bishop, and Dorothy Trump

Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein
Human Molecular Genetics Advance Access published on May 19, 2005
Hum. Mol. Genet. 2005 14: 1877-1887; doi:10.1093/hmg/ddi194 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hua-Qin Wang, Yoshifumi Nakaya, Zhenyu Du, Takuya Yamane, Michiko Shirane, Takashi Kudo, Masatoshi Takeda, Koichi Takebayashi, Yoichi Noda, Keiichi I. Nakayama, and Masaki Nishimura

Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2
Human Molecular Genetics Advance Access published on May 19, 2005
Hum. Mol. Genet. 2005 14: 1889-1902; doi:10.1093/hmg/ddi195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Benjamin M. Shykind

Regulation of odorant receptors: one allele at a time
Hum. Mol. Genet. 2005 14: 1903; doi:10.1093/hmg/ddi193 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

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 dog
Hum. Mol. Genet. 2005 14: 1905-1906; doi:10.1093/hmg/ddi201 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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