Human Molecular Genetics

REPORTS:

Hanlee P. Ji and Mary-Claire King

A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency
Hum. Mol. Genet. 2001 10: 2737-2743; doi:10.1093/hmg/10.24.2737 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gregory E. Crawford, Qi Long Lu, Terry A. Partridge, and Jeffrey S. Chamberlain

Suppression of revertant fibers in mdx mice by expression of a functional dystrophin
Hum. Mol. Genet. 2001 10: 2745-2750; doi:10.1093/hmg/10.24.2745 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stephan Francke, Meera Manraj, Corinne Lacquemant, Cecile Lecoeur, Frédéric Leprêtre, Philippe Passa, Annick Hebe, Laetitia Corset, Solange Lee Kwai Yan, Saïda Lahmidi, Sarojini Jankee, Teman K. Gunness, Uday S. Ramjuttun, Vinod Balgobin, Christian Dina, and Philippe Froguel

A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27
Hum. Mol. Genet. 2001 10: 2751-2765; doi:10.1093/hmg/10.24.2751 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anneke I. den Hollander, Kevin Johnson, Yvette J. M. de Kok, Ansgar Klebes, Han G. Brunner, Elisabeth Knust, and Frans P. M. Cremers

CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
Hum. Mol. Genet. 2001 10: 2767-2773; doi:10.1093/hmg/10.24.2767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cody Buller, Xin Xu, Victoria Marquis, Ryan Schwanke, and Pin-Xian Xu

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome
Hum. Mol. Genet. 2001 10: 2775-2781; doi:10.1093/hmg/10.24.2775 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nadége Bondurand, Mathilde Girard, Véronique Pingault, Nicole Lemort, Odile Dubourg, and Michel Goossens

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10
Hum. Mol. Genet. 2001 10: 2783-2795; doi:10.1093/hmg/10.24.2783 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vip Viprakasit, Richard J. Gibbons, Bernard C. Broughton, John L. Tolmie, Donald Brown, Peter Lunt, Robin M. Winter, Stefano Marinoni, Miria Stefanini, Louise Brueton, Alan R. Lehmann, and Douglas R. Higgs

Mutations in the general transcription factor TFIIH result in ß-thalassaemia in individuals with trichothiodystrophy
Hum. Mol. Genet. 2001 10: 2797-2802; doi:10.1093/hmg/10.24.2797 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marc-Etienne Huot, Rachid Mazroui, Pierre Leclerc, and Edouard W. Khandjian

Developmental expression of the fragile X-related 1 proteins in mouse testis: association with microtubule elements
Hum. Mol. Genet. 2001 10: 2803-2811; doi:10.1093/hmg/10.24.2803 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard D. Emes and Chris P. Ponting

A new sequence motif linking lissencephaly, Treacher Collins and oral–facial–digital type 1 syndromes, microtubule dynamics and cell migration
Hum. Mol. Genet. 2001 10: 2813-2820; doi:10.1093/hmg/10.24.2813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Antoni Matilla, Carlos Gorbea, David D. Einum, Jeannette Townsend, Andrej Michalik, Christine van Broeckhoven, Christopher C. Jensen, Kelley J. Murphy, Louis J. Ptácek, and Ying-Hui Fu

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex
Hum. Mol. Genet. 2001 10: 2821-2831; doi:10.1093/hmg/10.24.2821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ingrid Eisenbarth, Andrea M. Striebel, Elke Moschgath, Walther Vogel, and Günter Assum

Long-range sequence composition mirrors linkage disequilibrium pattern in a 1.13 Mb region of human chromosome 22
Hum. Mol. Genet. 2001 10: 2833-2839; doi:10.1093/hmg/10.24.2833 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catia Andreassi, Jill Jarecki, Jianhua Zhou, Daniel D. Coovert, Umrao R. Monani, Xiaocum Chen, Mike Whitney, Brian Pollok, Minlei Zhang, Elliot Androphy, and Arthur H.M. Burghes

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
Hum. Mol. Genet. 2001 10: 2841-2849; doi:10.1093/hmg/10.24.2841 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.