Human Molecular Genetics

ARTICLES:

Juergen Neesen, Renate Kirschner, Matthias Ochs, Andreas Schmiedl, Barbara Habermann, Christian Mueller, Adolf Friedrich Holstein, Thomas Nuesslein, Ibrahim Adham, and Wolfgang Engel

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency
Hum. Mol. Genet. 2001 10: 1117-1128; doi:10.1093/hmg/10.11.1117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Yeon-Jeong Kim, Satoru Noguchi, Yukiko K. Hayashi, Toshifumi Tsukahara, Takao Shimizu, and Kiichi Arahata

The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression
Hum. Mol. Genet. 2001 10: 1129-1139; doi:10.1093/hmg/10.11.1129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa J. Cushman, Dawn E. Watkins-Chow, Michelle L. Brinkmeier, Lori T. Raetzman, Amy L. Radak, Ricardo V. Lloyd, and Sally A. Camper

Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility
Hum. Mol. Genet. 2001 10: 1141-1153; doi:10.1093/hmg/10.11.1141 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sharon A. Pitts, Harjit S. Kullar, Tatjana Stankovic, Grant S. Stewart, James I. K. Last, Tina Bedenham, Susan J. Armstrong, Maria Piane, Luciana Chessa, A. Malcolm R. Taylor, and Philip J. Byrd

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
Hum. Mol. Genet. 2001 10: 1155-1162; doi:10.1093/hmg/10.11.1155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tokuyuki Shinohara, Kazuma Tomizuka, Shinichi Miyabara, Shoko Takehara, Yasuhiro Kazuki, Jun Inoue, Motonobu Katoh, Hironobu Nakane, Akihiro Iino, Atsuko Ohguma, Shiro Ikegami, Kaoru Inokuchi, Isao Ishida, Roger H. Reeves, and Mitsuo Oshimura

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down’s syndrome
Hum. Mol. Genet. 2001 10: 1163-1175; doi:10.1093/hmg/10.11.1163 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Uwe Schwahn, Nicole Paland, Sandra Techritz, Steffen Lenzner, and Wolfgang Berger

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein
Hum. Mol. Genet. 2001 10: 1177-1183; doi:10.1093/hmg/10.11.1177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David N. Finegold, Mark A. Kimak, Elizabeth C. Lawrence, Kara L. Levinson, Elizabeth M. Cherniske, Barbara R. Pober, Jean W. Dunlap, and Robert E. Ferrell

Truncating mutations in FOXC2 cause multiple lymphedema syndromes
Hum. Mol. Genet. 2001 10: 1185-1189; doi:10.1093/hmg/10.11.1185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Matsuda, Marie T. Vanier, Yuko Saito, Jun Tohyama, Kinuko Suzuki, and Kunihiko Suzuki

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse
Hum. Mol. Genet. 2001 10: 1191-1199; doi:10.1093/hmg/10.11.1191 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anne-Sophie Lebre, Laure Jamot, Junko Takahashi, Nathalie Spassky, Corinne Leprince, Nicole Ravisé, Cécilia Zander, Hiroto Fujigasaki, Polonka Kussel-Andermann, Charles Duyckaerts, Jacques H. Camonis, and Alexis Brice

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions
Hum. Mol. Genet. 2001 10: 1201-1213; doi:10.1093/hmg/10.11.1201 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Edward Blair, Charles Redwood, Houman Ashrafian, Marisa Oliveira, John Broxholme, Bronwyn Kerr, Anthony Salmon, Ingegerd Östman-Smith, and Hugh Watkins

Mutations in the ₂ subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis
Hum. Mol. Genet. 2001 10: 1215-1220; doi:10.1093/hmg/10.11.1215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vanna Geromel, Noman Kadhom, Irène Cebalos-Picot, Olivier Ouari, Ange Polidori, Arnold Munnich, Agnès Rötig, and Pierre Rustin

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
Hum. Mol. Genet. 2001 10: 1221-1228; doi:10.1093/hmg/10.11.1221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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