Human Molecular Genetics

ARTICLES:

Nadege Bondurand, Veronique Pingault, Derk E. Goerich, Nicole Lemort, Elisabeth Sock, Cedric Le Caignec, Michael Wegner, and Michel Goossens

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
Hum. Mol. Genet. 2000 9: 1907-1917; doi:10.1093/hmg/9.13.1907 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Paul Chapple, Alison J. Hardcastle, Celene Grayson, L.A. Spackman, Keith R. Willison, and Michael E. Cheetham

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane
Hum. Mol. Genet. 2000 9: 1919-1926; doi:10.1093/hmg/9.13.1919 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

John R. Forbes and Diane W. Cox

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
Hum. Mol. Genet. 2000 9: 1927-1935; doi:10.1093/hmg/9.13.1927 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tessa Carrel, Smita M. Purandare, Wilbur Harrison, Frederick Elder, Terry Fox, Brett Casey, and Gail E. Herman

The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus
Hum. Mol. Genet. 2000 9: 1937-1942; doi:10.1093/hmg/9.13.1937 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cheryl L. Glenn, William Y.S. Wang, Adam V. Benjafield, and Brian J. Morris

Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor
Hum. Mol. Genet. 2000 9: 1943-1949; doi:10.1093/hmg/9.13.1943 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cristina Has, Leena Bruckner-Tuderman, Dietmar Müller, Michaela Floeth, Elzo Folkers, Diana Donnai, and Heiko Traupe

The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism
Hum. Mol. Genet. 2000 9: 1951-1955; doi:10.1093/hmg/9.13.1951 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Claudia Gaspar, Merhdad Jannatipour, Patrick Dion, Janet Laganière, Jorge Sequeiros, Bernard Brais, and Guy A. Rouleau

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation
Hum. Mol. Genet. 2000 9: 1957-1966; doi:10.1093/hmg/9.13.1957 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sudhir Marathe, Silvia R.P. Miranda, Cecilia Devlin, Anthony Johns, George Kuriakose, Kevin Jon Williams, Edward H. Schuchman, and Ira Tabas

Creation of a mouse model for non-neurological (type B) Niemann–Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function
Hum. Mol. Genet. 2000 9: 1967-1976; doi:10.1093/hmg/9.13.1967 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gunter Meister, Dirk Bühler, Bernhard Laggerbauer, Monika Zobawa, Friedrich Lottspeich, and Utz Fischer

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
Hum. Mol. Genet. 2000 9: 1977-1986; doi:10.1093/hmg/9.13.1977 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aileen J. McGettrick, Vroni Knott, Anthony Willis, and Penny A. Handford

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context
Hum. Mol. Genet. 2000 9: 1987-1994; doi:10.1093/hmg/9.13.1987 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nobuyuki Shimozawa, Yasuyuki Suzuki, Zhongyi Zhang, Atsushi Imamura, Kamran Ghaedi, Yukio Fujiki, and Naomi Kondo

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures
Hum. Mol. Genet. 2000 9: 1995-1999; doi:10.1093/hmg/9.13.1995 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yong-Xing Zhou, Xiaoling Xu, Lin Chen, Cuiling Li, Steven G. Brodie, and Chu-Xia Deng

A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
Hum. Mol. Genet. 2000 9: 2001-2008; doi:10.1093/hmg/9.13.2001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nihar Ranjan Jana, Motomasa Tanaka, Guang-hui Wang, and Nobuyuki Nukina

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity
Hum. Mol. Genet. 2000 9: 2009-2018; doi:10.1093/hmg/9.13.2009 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rachelle H. Crosbie, Leland E. Lim, Steven A. Moore, Michio Hirano, Arthur P. Hays, Simon W. Maybaum, Huguette Collin, Sherri A. Dovico, Catherine A. Stolle, Michel Fardeau, Fernando M.S. Tomé, and Kevin P. Campbell

Molecular and genetic characterization of sarcospan: insights into sarcoglycan–sarcospan interactions
Hum. Mol. Genet. 2000 9: 2019-2027; doi:10.1093/hmg/9.13.2019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Guy, C. Spalluto, A. McMurray, T. Hearn, M. Crosier, L. Viggiano, V. Miolla, N. Archidiacono, M. Rocchi, C. Scott, P.A. Lee, J. Sulston, J. Rogers, D. Bentley, and M.S. Jackson

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q
Hum. Mol. Genet. 2000 9: 2029-2042; doi:10.1093/hmg/9.13.2029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lucia Becherini, Luigi Gennari, Laura Masi, Riccardo Mansani, Francesco Massart, Annamaria Morelli, Alberto Falchetti, Stefano Gonnelli, Gianna Fiorelli, Annalisa Tanini, and Maria Luisa Brandi

Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor gene and their relationship to bone mass variation in postmenopausal Italian women
Hum. Mol. Genet. 2000 9: 2043-2050; doi:10.1093/hmg/9.13.2043 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andréa Laurato Sertié, Vitorio Sossi, AnaMaria A. Camargo, Mayana Zatz, Christina Brahe, and Maria Rita Passos-Bueno

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Hum. Mol. Genet. 2000 9: 2051-2058; doi:10.1093/hmg/9.13.2051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Uwe Kornak, Ansgar Schulz, Wilhelm Friedrich, Siegfried Uhlhaas, Bernhard Kremens, Thomas Voit, Carola Hasan, Udo Bode, Thomas J. Jentsch, and Christian Kubisch

Mutations in the a3 subunit of the vacuolar H⁺-ATPase cause infantile malignant osteopetrosis
Hum. Mol. Genet. 2000 9: 2059-2063; doi:10.1093/hmg/9.13.2059 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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