Human Molecular Genetics

ARTICLES:

Sander M. Houten, Joost Frenkel, Ger T. Rijkers, Ronald J.A. Wanders, Wietse Kuis, and Hans R. Waterham

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome
Hum. Mol. Genet. 2002 11: 3115-3124; doi:10.1093/hmg/11.25.3115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daiki Adachi, Tsukasa Oda, Hiroshi Yagasaki, Keiko Nakasato, Toshiyasu Taniguchi, Alan D. D'Andrea, Shigetaka Asano, and Takayuki Yamashita

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants
Hum. Mol. Genet. 2002 11: 3125-3134; doi:10.1093/hmg/11.25.3125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dimitrios J. Stavropoulos, Paul S. Bradshaw, Xiaobin Li, Ivan Pasic, Kevin Truong, Mitsuhiko Ikura, Mark Ungrin, and M. Stephen Meyn

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis
Hum. Mol. Genet. 2002 11: 3135-3144; doi:10.1093/hmg/11.25.3135 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andrew J. Sharp, Hugh T. Spotswood, David O. Robinson, Bryan M. Turner, and Patricia A. Jacobs

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations
Hum. Mol. Genet. 2002 11: 3145-3156; doi:10.1093/hmg/11.25.3145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa L. Hall, Christine M. Clemson, Meg Byron, Karen Wydner, and Jeanne B. Lawrence

Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin
Hum. Mol. Genet. 2002 11: 3157-3165; doi:10.1093/hmg/11.25.3157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chun-Xiao Sun, Carrie Haipek, Daniel R. Scoles, Stefan M. Pulst, Marco Giovannini, Masayuki Komada, and David H. Gutmann

Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate
Hum. Mol. Genet. 2002 11: 3167-3178; doi:10.1093/hmg/11.25.3167 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daniel R. Scoles, Vu D. Nguyen, Yun Qin, Chun-Xiao Sun, Helen Morrison, David H. Gutmann, and Stefan-M. Pulst

Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling
Hum. Mol. Genet. 2002 11: 3179-3189; doi:10.1093/hmg/11.25.3179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria Rosaria Matarazzo, Maria Luigia De Bonis, Richard I. Gregory, Marcella Vacca, R. Scott Hansen, Grazia Mercadante, Michele D'Urso, Robert Feil, and Maurizio D'Esposito

Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes
Hum. Mol. Genet. 2002 11: 3191-3198; doi:10.1093/hmg/11.25.3191 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Li-Yuan Chen, Chi-Jiunn Pan, Jeng-Jer Shieh, and Janice Yang Chou

Structure–function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib
Hum. Mol. Genet. 2002 11: 3199-3207; doi:10.1093/hmg/11.25.3199 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Evelyne C. Deery, Eranga N. Vithana, Richard J. Newbold, Victoria A. Gallon, Shomi S. Bhattacharya, Martin. J. Warren, David M. Hunt, and Susan E. Wilkie

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
Hum. Mol. Genet. 2002 11: 3209-3219; doi:10.1093/hmg/11.25.3209 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick G. Buckley, Kiran K. Mantripragada, Magdalena Benetkiewicz, Isabel Tapia-Páez, Teresita Diaz de Ståhl, Magnus Rosenquist, Haider Ali, Caroline Jarbo, Cecilía de Bustos, Carina Hirvelä, Birgitta Sinder Wilén, Ingegerd Fransson, Charlotte Thyr, Britt-Inger Johnsson, Carl E.G. Bruder, Uwe Menzel, Martin Hergersberg, Nils Mandahl, Elisabeth Blennow, Anna Wedell, David M. Beare, John E. Collins, Ian Dunham, Donna Albertson, Daniel Pinkel, Boris C. Bastian, A. Fawad Faruqi, Roger S. Lasken, Koichi Ichimura, V. Peter Collins, and Jan P. Dumanski

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Hum. Mol. Genet. 2002 11: 3221-3229; doi:10.1093/hmg/11.25.3221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Manuel Sánchez-Martín, Arancha Rodríguez-García, Jesús Pérez-Losada, Ana Sagrera, Andrew P. Read, and Isidro Sánchez-García

SLUG (SNAI2) deletions in patients with Waardenburg disease
Hum. Mol. Genet. 2002 11: 3231-3236; doi:10.1093/hmg/11.25.3231 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Siddharth K. Prakash, Trena A. Cormier, Alanna E. McCall, Jesus J. Garcia, Rebecca Sierra, Bisong Haupt, Huda Y. Zoghbi, and Ignatia B. Van den Veyver

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome
Hum. Mol. Genet. 2002 11: 3237-3248; doi:10.1093/hmg/11.25.3237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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