Human Molecular Genetics

ARTICLES:

Koichiro Nakamura, Seon-Yong Jeong, Toshiki Uchihara, Midori Anno, Kazuo Nagashima, Toshiko Nagashima, Shu-ichi Ikeda, Shoji Tsuji, and Ichiro Kanazawa

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
Hum. Mol. Genet. 2001 10: 1441-1448; doi:10.1093/hmg/10.14.1441 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Aileen Kenneson, Fuping Zhang, Curt H. Hagedorn, and Stephen T. Warren

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
Hum. Mol. Genet. 2001 10: 1449-1454; doi:10.1093/hmg/10.14.1449 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rebecca K. Rowntree, Georges Vassaux, Tarra L. McDowell, Steve Howe, Amanda McGuigan, Marios Phylactides, Clare Huxley, and Ann Harris

An element in intron 1 of the CFTR gene augments intestinal expression in vivo
Hum. Mol. Genet. 2001 10: 1455-1464; doi:10.1093/hmg/10.14.1455 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jacques L. Michaud, Francine Boucher, Anna Melnyk, France Gauthier, Eleni Goshu, Emile Lévy, Grant A. Mitchell, Jean Himms-Hagen, and Chen-Ming Fan

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus
Hum. Mol. Genet. 2001 10: 1465-1473; doi:10.1093/hmg/10.14.1465 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takahiro Arima, Robert A. Drewell, Katharine L. Arney, Jun Inoue, Yoshio Makita, Akira Hata, Mitsuo Oshimura, Norio Wake, and M. Azim Surani

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus
Hum. Mol. Genet. 2001 10: 1475-1483; doi:10.1093/hmg/10.14.1475 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lawrence P. Karniski

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype
Hum. Mol. Genet. 2001 10: 1485-1490; doi:10.1093/hmg/10.14.1485 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tom R. Gaunt, Jacqueline A. Cooper, George J. Miller, Ian N.M. Day, and Sandra D. O’Dell

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males
Hum. Mol. Genet. 2001 10: 1491-1501; doi:10.1093/hmg/10.14.1491 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Valère Cacheux, Florence Dastot-Le Moal, Helena Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Meredith Wilson, David Mowat, and Michel Goossens

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
Hum. Mol. Genet. 2001 10: 1503-1510; doi:10.1093/hmg/10.14.1503 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher J. Cummings, Yaling Sun, Puneet Opal, Barbara Antalffy, Ruben Mestril, Harry T. Orr, Wolfgang H. Dillmann, and Huda Y. Zoghbi

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
Hum. Mol. Genet. 2001 10: 1511-1518; doi:10.1093/hmg/10.14.1511 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David H. Gutmann, Angela C. Hirbe, and Carrie A. Haipek

Functional analysis of neurofibromatosis 2 (NF2) missense mutations
Hum. Mol. Genet. 2001 10: 1519-1529; doi:10.1093/hmg/10.14.1519 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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