Human Molecular Genetics

ARTICLES:

Zhoutao Chen, Andrew C. Karaplis, Susan L. Ackerman, Igor P. Pogribny, Stepan Melnyk, Suzanne Lussier-Cacan, Moy Fong Chen, Aditya Pai, Simon W.M. John, Richard S. Smith, Teodoro Bottiglieri, Pamela Bagley, Jacob Selhub, Michael A. Rudnicki, S. Jill James, and Rima Rozen

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition
Hum. Mol. Genet. 2001 10: 433-443; doi:10.1093/hmg/10.5.433 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ian C. Lawrance, Claudio Fiocchi, and Shukti Chakravarti

Ulcerative colitis and Crohn’s disease: distinctive gene expression profiles and novel susceptibility candidate genes
Hum. Mol. Genet. 2001 10: 445-456; doi:10.1093/hmg/10.5.445 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Lin Chen, Cuiling Li, Wenhui Qiao, Xiaoling Xu, and Chuxia Deng

A Ser³⁶⁵Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia
Hum. Mol. Genet. 2001 10: 457-465; doi:10.1093/hmg/10.5.457 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jet Bliek, Saskia M. Maas, Jan M. Ruijter, Raoul C.M. Hennekam, Marielle Alders, Andries Westerveld, and Marcel M.A.M. Mannens

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Hum. Mol. Genet. 2001 10: 467-476; doi:10.1093/hmg/10.5.467 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Koumei Takeda, Hiroshi Inoue, Yukio Tanizawa, Yumiko Matsuzaki, Jun Oba, Yoshifumi Watanabe, Koh Shinoda, and Yoshitomo Oka

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
Hum. Mol. Genet. 2001 10: 477-484; doi:10.1093/hmg/10.5.477 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lourdes Estrada, Emmanuelle Caron, and Jerome L. Gorski

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane
Hum. Mol. Genet. 2001 10: 485-495; doi:10.1093/hmg/10.5.485 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sibylle Jablonka, Michael Bandilla, Stefan Wiese, Dirk Bühler, Brunhilde Wirth, Michael Sendtner, and Utz Fischer

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
Hum. Mol. Genet. 2001 10: 497-505; doi:10.1093/hmg/10.5.497 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hsun Tsai, Rachel E. Hardisty, Charlotte Rhodes, Amy E. Kiernan, Phil Roby, Zuzanna Tymowska-Lalanne, Philomena Mburu, Sohaila Rastan, A. Jackie Hunter, Steve D. M. Brown, and Karen P. Steel

The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti
Hum. Mol. Genet. 2001 10: 507-512; doi:10.1093/hmg/10.5.507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alex Duval, Sandra Rolland, Aurore Compoint, Emmanuel Tubacher, Barry Iacopetta, Gilles Thomas, and Richard Hamelin

Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers
Hum. Mol. Genet. 2001 10: 513-518; doi:10.1093/hmg/10.5.513 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M. Prakash Hande, Adayabalam S. Balajee, Andrei Tchirkov, Anthony Wynshaw-Boris, and Peter M. Lansdorp

Extra-chromosomal telomeric DNA in cells from Atm^–/– mice and patients with ataxia-telangiectasia
Hum. Mol. Genet. 2001 10: 519-528; doi:10.1093/hmg/10.5.519 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vittoria Petruzzella, Rosaria Vergari, Irene Puzziferri, Domenico Boffoli, Eleonora Lamantea, Massimo Zeviani, and Sergio Papa

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
Hum. Mol. Genet. 2001 10: 529-535; doi:10.1093/hmg/10.5.529 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wendy Balemans, Martin Ebeling, Neela Patel, Els Van Hul, Pam Olson, Marianna Dioszegi, Charlemagne Lacza, Wim Wuyts, Jenneke Van Den Ende, Patrick Willems, Auristela F. Paes-Alves, Suvimol Hill, Manuel Bueno, Feliciano J. Ramos, Paolo Tacconi, Frederik G. Dikkers, Constantine Stratakis, Klaus Lindpaintner, Brian Vickery, Dorothee Foernzler, and Wim Van Hul

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Hum. Mol. Genet. 2001 10: 537-543; doi:10.1093/hmg/10.5.537 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susan K. Service, Roel A. Ophoff, and Nelson B. Freimer

The genome-wide distribution of background linkage disequilibrium in a population isolate
Hum. Mol. Genet. 2001 10: 545-551; doi:10.1093/hmg/10.5.545 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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