Human Molecular Genetics

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Kimberly Lieuallen, Len A. Pennacchio, Morgan Park, Richard M. Myers, and Gregory G. Lennon

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes
Hum. Mol. Genet. 2001 10: 1867-1871; doi:10.1093/hmg/10.18.1867 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. Krausz, L. Quintana-Murci, E. Rajpert-De Meyts, N. Jørgensen, M.A. Jobling, Z.H. Rosser, N.E. Skakkebaek, and K. McElreavey

Identification of a Y chromosome haplogroup associated with reduced sperm counts
Hum. Mol. Genet. 2001 10: 1873-1877; doi:10.1093/hmg/10.18.1873 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jeffrey D. Amack and Mani S. Mahadevan

The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation
Hum. Mol. Genet. 2001 10: 1879-1887; doi:10.1093/hmg/10.18.1879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aaron R. Ellison, Joan Lofing, and Grant A. Bitter

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human–yeast MLH1 proteins in Saccharomyces cerevisiae
Hum. Mol. Genet. 2001 10: 1889-1900; doi:10.1093/hmg/10.18.1889 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A. Barton, S. Eyre, A. Myerscough, B. Brintnell, D. Ward, W.E.R. Ollier, J.C. Lorentzen, L. Klareskog, A. Silman, S. John, The Arthritis Rheumatism Campaign National Repository, and J. Worthington

High resolution linkage and association mapping identifies a novel rheumatoid arthritis susceptibility locus homologous to one linked to two rat models of inflammatory arthritis
Hum. Mol. Genet. 2001 10: 1901-1906; doi:10.1093/hmg/10.18.1901 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Keisuke Kurose, Stacy Hoshaw-Woodard, Adewale Adeyinka, Stanley Lemeshow, Peter H. Watson, and Charis Eng

Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour–microenvironment interactions
Hum. Mol. Genet. 2001 10: 1907-1913; doi:10.1093/hmg/10.18.1907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xavier Altafaj, Mara Dierssen, Carmela Baamonde, Eulàlia Martí, Joana Visa, Jordi Guimerà, Marta Oset, Juan Ramón González, Jesús Flórez, Cristina Fillat, and Xavier Estivill

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down’s syndrome
Hum. Mol. Genet. 2001 10: 1915-1923; doi:10.1093/hmg/10.18.1915 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thierry Bordet, Jeanne-Claire Lesbordes, Saïd Rouhani, Laëtitia Castelnau-Ptakhine, Henning Schmalbruch, Georg Haase, and Axel Kahn

Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice
Hum. Mol. Genet. 2001 10: 1925-1933; doi:10.1093/hmg/10.18.1925 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Manuela M. Santos, Keiichi Ohshima, and Massimo Pandolfo

Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
Hum. Mol. Genet. 2001 10: 1935-1944; doi:10.1093/hmg/10.18.1935 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria Antonietta Cerone, J. Arturo Londono-Vallejo, and Silvia Bacchetti

Telomere maintenance by telomerase and by recombination can coexist in human cells
Hum. Mol. Genet. 2001 10: 1945-1952; doi:10.1093/hmg/10.18.1945 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennifer V. Grobelny, Michelle Kulp-McEliece, and Dominique Broccoli

Effects of reconstitution of telomerase activity on telomere maintenance by the alternative lengthening of telomeres (ALT) pathway
Hum. Mol. Genet. 2001 10: 1953-1961; doi:10.1093/hmg/10.18.1953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laurie Jo Kurihara, Tateki Kikuchi, Keiji Wada, and Shirley M. Tilghman

Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia
Hum. Mol. Genet. 2001 10: 1963-1970; doi:10.1093/hmg/10.18.1963 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mridul Mukherji, Winnie Chien, Nadia J. Kershaw, Ian J. Clifton, Christopher J. Schofield, Anthony S. Wierzbicki, and Matthew D. Lloyd

Structure–function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum’s disease
Hum. Mol. Genet. 2001 10: 1971-1982; doi:10.1093/hmg/10.18.1971 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tushar K. Ghosh, Elizabeth A. Packham, Andrew J. Bonser, Thelma E. Robinson, Stephen J. Cross, and J. David Brook

Characterization of the TBX5 binding site and analysis of mutations that cause Holt–Oram syndrome
Hum. Mol. Genet. 2001 10: 1983-1994; doi:10.1093/hmg/10.18.1983 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Heidi G.E. Sutherland, Gail K. Mumford, Kathryn Newton, Lisa V. Ford, Rachel Farrall, Graham Dellaire, Javier F. Cáceres, and Wendy A. Bickmore

Large-scale identification of mammalian proteins localized to nuclear sub-compartments
Hum. Mol. Genet. 2001 10: 1995-2011; doi:10.1093/hmg/10.18.1995 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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