Human Molecular Genetics

ARTICLES:

Outi Kopra, Jouni Vesa, Carina von Schantz, Tuula Manninen, Helena Minye, Anna-Liisa Fabritius, Juhani Rapola, Otto P. van Diggelen, Janna Saarela, Anu Jalanko, and Leena Peltonen

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2893-2906; doi:10.1093/hmg/ddh312 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yuki Hitomi, Naoyuki Tsuchiya, Aya Kawasaki, Jun Ohashi, Takeshi Suzuki, Chieko Kyogoku, Toru Fukazawa, Sasitorn Bejrachandra, Usanee Siriboonrit, Dasnayanee Chandanayingyong, Puan Suthipinittharm, Betty P. Tsao, Hiroshi Hashimoto, Zen-ichiro Honda, and Katsushi Tokunaga

CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2907-2917; doi:10.1093/hmg/ddh318 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Maria Giovanna Marrosu, Costantino Motzo, Raffaele Murru, Rosanna Lampis, Gianna Costa, Patrizia Zavattari, Daniela Contu, Elisabetta Fadda, Eleonora Cocco, and Francesco Cucca

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone
Human Molecular Genetics Advance Access published on October 7, 2004
Hum. Mol. Genet. 2004 13: 2919-2924; doi:10.1093/hmg/ddh319 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marianne Hammarsund, Mikael Lerner, Chaoyong Zhu, Mats Merup, Monika Jansson, Gösta Gahrton, Hanneke Kluin-Nelemans, Stefan Einhorn, Dan Grandér, Olle Sangfelt, and Martin Corcoran

Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2925-2936; doi:10.1093/hmg/ddh315 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Emma Bolderson, Jennifer Scorah, Thomas Helleday, Carl Smythe, and Mark Meuth

ATM is required for the cellular response to thymidine induced replication fork stress
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2937-2945; doi:10.1093/hmg/ddh316 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Judy Cossins, Richard Webster, Susan Maxwell, Georgina Burke, Angela Vincent, and David Beeson

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition
Human Molecular Genetics Advance Access published on October 7, 2004
Hum. Mol. Genet. 2004 13: 2947-2957; doi:10.1093/hmg/ddh320 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takeshi Hirota, Ichiro Ieiri, Hiroshi Takane, Shinji Maegawa, Masakiyo Hosokawa, Kaoru Kobayashi, Kan Chiba, Eiji Nanba, Mitsuo Oshimura, Tetsuo Sato, Shun Higuchi, and Kenji Otsubo

Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2959-2969; doi:10.1093/hmg/ddh313 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stormy J. Chamberlain, Karen A. Johnstone, Amanda J. DuBose, Thomas A. Simon, Marisa S. Bartolomei, James L. Resnick, and Camilynn I. Brannan

Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2971-2977; doi:10.1093/hmg/ddh314 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vera Gorbunova, Andrei Seluanov, David Mittelman, and John H. Wilson

Genome-wide demethylation destabilizes CTG·CAG trinucleotide repeats in mammalian cells
Human Molecular Genetics Advance Access published on September 30, 2004
Hum. Mol. Genet. 2004 13: 2979-2989; doi:10.1093/hmg/ddh317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wu-Yan Chen, Yong-Yong Shi, Yong-Lan Zheng, Xin-Zhi Zhao, Guang-Ji Zhang, Sheng-Qi Chen, Pei-Di Yang, and Lin He

Case–control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8
Human Molecular Genetics Advance Access published on October 15, 2004
Hum. Mol. Genet. 2004 13: 2991-2995; doi:10.1093/hmg/ddh322 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aurora Pujol, Isidre Ferrer, Carme Camps, Elisabeth Metzger, Colette Hindelang, Noëlle Callizot, Montse Ruiz, Teresa Pàmpols, Marisa Giròs, and Jean Louis Mandel

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy
Human Molecular Genetics Advance Access published on October 15, 2004
Hum. Mol. Genet. 2004 13: 2997-3006; doi:10.1093/hmg/ddh323 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Oliver Stehling, Hans-Peter Elsässer, Bernd Brückel, Ulrich Mühlenhoff, and Roland Lill

Iron–sulfur protein maturation in human cells: evidence for a function of frataxin
Human Molecular Genetics Advance Access published on October 27, 2004
Hum. Mol. Genet. 2004 13: 3007-3015; doi:10.1093/hmg/ddh324 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kaisu Luiro, Kristiina Yliannala, Laura Ahtiainen, Heidi Maunu, Irma Järvelä, Aija Kyttälä, and Anu Jalanko

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
Human Molecular Genetics Advance Access published on October 7, 2004
Hum. Mol. Genet. 2004 13: 3017-3027; doi:10.1093/hmg/ddh321 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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