Human Molecular Genetics

REPORTS:

Martha M. Pao, Masakazu Tsutsumi, Gangning Liang, Eva Uzvolgyi, Felicidad A. Gonzales, and Peter A. Jones

The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells
Hum. Mol. Genet. 2001 10: 903-910; doi:10.1093/hmg/10.9.903 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sanjaya Singh, Lian Y. Chao, Rajnikant Mishra, Jonathan Davies, and Grady F. Saunders

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
Hum. Mol. Genet. 2001 10: 911-918; doi:10.1093/hmg/10.9.911 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yuji Tanaka, Simone Engelender, Shuichi Igarashi, Raghuram K. Rao, Tracy Wanner, Rudolph E. Tanzi, Akira Sawa, Valina L. Dawson, Ted M. Dawson, and Christopher A. Ross

Inducible expression of mutant -synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis
Hum. Mol. Genet. 2001 10: 919-926; doi:10.1093/hmg/10.9.919 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H. Hulková, M. Cervenková, J. Ledvinová, M. Tochácková, M. Hrebícek, H. Poupetová, A. Befekadu, L. Berná, B.C. Paton, K. Harzer, A. Böör, F. Smíd, and M. Elleder

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Hum. Mol. Genet. 2001 10: 927-940; doi:10.1093/hmg/10.9.927 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philippe Couvert, Thierry Bienvenu, Cecile Aquaviva, Karine Poirier, Claude Moraine, Chantal Gendrot, Alain Verloes, Christian Andrès, Anne Celine Le Fevre, Isabelle Souville, Julie Steffann, Vincent des Portes, Hans-Hilger Ropers, Helger G. Yntema, Jean-Pierre Fryns, Sylvain Briault, Jamel Chelly, and Beldjord Cherif

MECP2 is highly mutated in X-linked mental retardation
Hum. Mol. Genet. 2001 10: 941-946; doi:10.1093/hmg/10.9.941 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Núria López-Bigas, Montserrat Olivé, Raquel Rabionet, Orit Ben-David, Juan Antonio Martínez-Matos, Olga Bravo, Isabel Banchs, Victor Volpini, Paolo Gasparini, Karen B. Avraham, Isidre Ferrer, Maria Lourdes Arbonés, and Xavier Estivill

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
Hum. Mol. Genet. 2001 10: 947-952; doi:10.1093/hmg/10.9.947 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Outi Elomaa, Kati Pulkkinen, Ulf Hannelius, Marja Mikkola, Ulpu Saarialho-Kere, and Juha Kere

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein
Hum. Mol. Genet. 2001 10: 953-962; doi:10.1093/hmg/10.9.953 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher J. Bean, Patricia A. Hunt, Elise A. Millie, and Terry J. Hassold

Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone
Hum. Mol. Genet. 2001 10: 963-972; doi:10.1093/hmg/10.9.963 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

International Molecular Genetic Study of Autism Consortium

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
Hum. Mol. Genet. 2001 10: 973-982; doi:10.1093/hmg/10.9.973 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jani Saarela, Minna Laine, Carita Oinonen, Carina von Schantz, Anu Jalanko, Juha Rouvinen, and Leena Peltonen

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations
Hum. Mol. Genet. 2001 10: 983-995; doi:10.1093/hmg/10.9.983 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elizabeth A. Lindsay and Antonio Baldini

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region
Hum. Mol. Genet. 2001 10: 997-1002; doi:10.1093/hmg/10.9.997 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Hum. Mol. Genet. 2001 10: 1003; doi:10.1093/hmg/10.9.1003 [PDF] [Request Permissions]  

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