Human Molecular Genetics

ARTICLES:

Christopher A. Wassif, Pinjun Zhu, Lisa Kratz, Patrycja A. Krakowiak, Kevin P. Battaile, Forrest F. Weight, Alexander Grinberg, Robert D. Steiner, Ngozi A. Nwokoro, Richard I. Kelley, Randall R. Stewart, and Forbes D. Porter

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome
Hum. Mol. Genet. 2001 10: 555-564; doi:10.1093/hmg/10.6.555 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Barbro C. Holm, Hong Wei Xu, Lena Jacobsson, Anders Larsson, Holger Luthman, and Johnny C. Lorentzen

Rats made congenic for Oia3 on chromosome 10 become susceptible to squalene-induced arthritis
Hum. Mol. Genet. 2001 10: 565-572; doi:10.1093/hmg/10.6.565 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Min-Xin Guan, Nathan Fischel-Ghodsian, and Giuseppe Attardi

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
Hum. Mol. Genet. 2001 10: 573-580; doi:10.1093/hmg/10.6.573 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alistair E. T. Newall, Sarah Duthie, Emma Formstone, Tatyana Nesterova, Maria Alexiou, Colette Johnston, Marie-Laure Caparros, and Neil Brockdorff

Primary non-random X inactivation associated with disruption of Xist promoter regulation
Hum. Mol. Genet. 2001 10: 581-589; doi:10.1093/hmg/10.6.581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shamil Sunyaev, Vasily Ramensky, Ina Koch, Warren Lathe III, Alexey S. Kondrashov, and Peer Bork

Prediction of deleterious human alleles
Hum. Mol. Genet. 2001 10: 591-597; doi:10.1093/hmg/10.6.591 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liang-Ping Weng, Jessica L. Brown, and Charis Eng

PTEN coordinates G₁ arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model
Hum. Mol. Genet. 2001 10: 599-604; doi:10.1093/hmg/10.6.599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liang-Ping Weng, Wendy M. Smith, Jessica L. Brown, and Charis Eng

PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model
Hum. Mol. Genet. 2001 10: 605-616; doi:10.1093/hmg/10.6.605 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stefano Cairo, Giuseppe Merla, Fabrizia Urbinati, Andrea Ballabio, and Alexandre Reymond

WBSCR14, a gene mapping to the Williams–Beuren syndrome deleted region, is a new member of the Mlx transcription factor network
Hum. Mol. Genet. 2001 10: 617-627; doi:10.1093/hmg/10.6.617 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ulrike Holtkemper, Burkhard Rolf, Carsten Hohoff, Peter Forster, and Bernd Brinkmann

Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques
Hum. Mol. Genet. 2001 10: 629-633; doi:10.1093/hmg/10.6.629 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiaoyin Shan, Roland L. Dunbrack, Jr, Scott A. Christopher, and Warren D. Kruger

Mutations in the regulatory domain of cystathionine ß–synthase can functionally suppress patient-derived mutations in cis
Hum. Mol. Genet. 2001 10: 635-643; doi:10.1093/hmg/10.6.635 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephanie B. Fulmer-Smentek and Uta Francke

Association of acetylated histones with paternally expressed genes in the Prader–Willi deletion region
Hum. Mol. Genet. 2001 10: 645-652; doi:10.1093/hmg/10.6.645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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