Human Molecular Genetics

ARTICLES:

John D.H. Stead, Jérôme Buard, John A. Todd, and Alec J. Jeffreys

Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes
Hum. Mol. Genet. 2000 9: 2929-2935; doi:10.1093/hmg/9.20.2929 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sha Sha Wang, Olivier Devuyst, Pierre J. Courtoy, Xi-Tao Wang, Hua Wang, Yanshu Wang, Rajesh V. Thakker, Sandra Guggino, and William B. Guggino

Mice lacking renal chloride channel, CLC-5, are a model for Dent’s disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
Hum. Mol. Genet. 2000 9: 2937-2945; doi:10.1093/hmg/9.20.2937 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia Zavattari, Elisabetta Deidda, Michael Whalen, Rosanna Lampis, Annapaola Mulargia, Miriam Loddo, Iain Eaves, Giuseppe Mastio, John A. Todd, and Francesco Cucca

Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection
Hum. Mol. Genet. 2000 9: 2947-2957; doi:10.1093/hmg/9.20.2947 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Rosanna Lampis, Laura Morelli, Mauro Congia, Maria Doloretta Macis, Annapaola Mulargia, Miriam Loddo, Stefano De Virgiliis, Maria Giovanna Marrosu, John A. Todd, and Francesco Cucca

The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case–control association studies in complex diseases
Hum. Mol. Genet. 2000 9: 2959-2965; doi:10.1093/hmg/9.20.2959 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia Zavattari, Rosanna Lampis, Annapaola Mulargia, Miriam Loddo, Efisio Angius, John A. Todd, and Francesco Cucca

Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia
Hum. Mol. Genet. 2000 9: 2967-2972; doi:10.1093/hmg/9.20.2967 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angela A.G. van Tilborg, Annie de Vries, Maarten de Bont, Lilian E. Groenfeld, Theo H. van der Kwast, and Ellen C. Zwarthoff

Molecular evolution of multiple recurrent cancers of the bladder
Hum. Mol. Genet. 2000 9: 2973-2980; doi:10.1093/hmg/9.20.2973 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

François Bertucci, Rémi Houlgatte, Athmane Benziane, Samuel Granjeaud, José Adélaïde, Rebecca Tagett, Béatrice Loriod, Jocelyne Jacquemier, Patrice Viens, Bertrand Jordan, Daniel Birnbaum, and Catherine Nguyen

Gene expression profiling of primary breast carcinomas using arrays of candidate genes
Hum. Mol. Genet. 2000 9: 2981-2991; doi:10.1093/hmg/9.20.2981 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H.G. Koch, J. McClay, E.-W. Loh, S. Higuchi, J.-H. Zhao, P. Sham, D. Ball, and I. W. Craig

Allele association studies with SSR and SNP markers at known physical distances within a 1 Mb region embracing the ALDH2 locus in the Japanese, demonstrates linkage disequilibrium extending up to 400 kb
Hum. Mol. Genet. 2000 9: 2993-2999; doi:10.1093/hmg/9.20.2993 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stéphanie Papin, Philippe Duquesnoy, Cécile Cazeneuve, Jacques Pantel, Maïté Coppey-Moisan, Catherine Dargemont, and Serge Amselem

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus
Hum. Mol. Genet. 2000 9: 3001-3009; doi:10.1093/hmg/9.20.3001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marilena d’Addio, Alessandro Pizzigoni, Maria Teresa Bassi, Cinzia Baschirotto, Caterina Valetti, Barbara Incerti, Maurizio Clementi, Michele De Luca, Andrea Ballabio, and Maria Vittoria Schiaffino

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
Hum. Mol. Genet. 2000 9: 3011-3018; doi:10.1093/hmg/9.20.3011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carlos Cardoso, Richard J. Leventer, Naomichi Matsumoto, Julie A. Kuc, Melissa B. Ramocki, Stephanie K. Mewborn, Laura L. Dudlicek, Lorraine F. May, Patti L. Mills, Soma Das, Daniela T. Pilz, William B. Dobyns, and David H. Ledbetter

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
Hum. Mol. Genet. 2000 9: 3019-3028; doi:10.1093/hmg/9.20.3019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takuya Watanabe, Akira Yoshimura, Yukio Mishima, Yoshiro Endo, Toshihiko Shiroishi, Tuyoshi Koide, Hiroyuki Sasaki, Hitoshi Asakura, and Ryo Kominami

Differential chromatin packaging of genomic imprinted regions between expressed and non-expressed alleles
Hum. Mol. Genet. 2000 9: 3029-3035; doi:10.1093/hmg/9.20.3029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lawrence S. Kirschner, Fabiano Sandrini, Juahdi Monbo, Jing-Ping Lin, J. Aidan Carney, and Constantine A. Stratakis

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
Hum. Mol. Genet. 2000 9: 3037-3046; doi:10.1093/hmg/9.20.3037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yasuko Hagiwara, Toshikuni Sasaoka, Kenji Araishi, Michihiro Imamura, Hiroshi Yorifuji, Ikuya Nonaka, Eijiro Ozawa, and Tateki Kikuchi

Caveolin-3 deficiency causes muscle degeneration in mice
Hum. Mol. Genet. 2000 9: 3047-3054; doi:10.1093/hmg/9.20.3047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Eduard Serra, Thorsten Rosenbaum, Ursula Winner, Rosa Aledo, Elisabet Ars, Xavier Estivill, Hans-Gerd Lenard, and Conxi Lázaro

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations
Hum. Mol. Genet. 2000 9: 3055-3064; doi:10.1093/hmg/9.20.3055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susan E. Wilkie, Richard J. Newbold, Evelyne Deery, Caroline E. Walker, Inez Stinton, Visvanathan Ramamurthy, James B. Hurley, Shomi S. Bhattacharya, Martin J. Warren, and David M. Hunt

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy
Hum. Mol. Genet. 2000 9: 3065-3073; doi:10.1093/hmg/9.20.3065 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia Rizzu, Marijke Joosse, Rivka Ravid, Andre Hoogeveen, Wouter Kamphorst, John C. van Swieten, Rob Willemsen, and Peter Heutink

Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients
Hum. Mol. Genet. 2000 9: 3075-3082; doi:10.1093/hmg/9.20.3075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Sasaki, Kinya Ishikawa, Kazuhiro Kobayashi, Eri Kondo-Iida, Masahisa Fukayama, Hidehiro Mizusawa, Sachio Takashima, Yoichi Sakakihara, Yusuke Nakamura, and Tatsushi Toda

Neuronal expression of the fukutin gene
Hum. Mol. Genet. 2000 9: 3083-3090; doi:10.1093/hmg/9.20.3083 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michihiro Imamura, Kenji Araishi, Satoru Noguchi, and Eijiro Ozawa

A sarcoglycan–dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system
Hum. Mol. Genet. 2000 9: 3091-3100; doi:10.1093/hmg/9.20.3091 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Françoise Muscatelli, Djoher Nora Abrous, Annick Massacrier, Irène Boccaccio, Michel Le Moal, Pierrre Cau, and Harold Cremer

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader–Willi syndrome
Hum. Mol. Genet. 2000 9: 3101-3110; doi:10.1093/hmg/9.20.3101 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

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