Human Molecular Genetics

ARTICLES:

M. F. Moffatt, J. A. Traherne, G. R. Abecasis, and W. O. C. M. Cookson

Single nucleotide polymorphism and linkage disequilibrium within the TCR / locus
Hum. Mol. Genet. 2000 9: 1011-1019; doi:10.1093/hmg/9.7.1011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard S. Smith, Adriana Zabaleta, Tsutomu Kume, Olga V. Savinova, Susan H. Kidson, Janice E. Martin, Darryl Y. Nishimura, Wallace L. M. Alward, Brigid L. M. Hogan, and Simon W. M. John

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
Hum. Mol. Genet. 2000 9: 1021-1032; doi:10.1093/hmg/9.7.1021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mikiharu Yoshida, Hiroshi Hama, Michiko Ishikawa-Sakurai, Michihiro Imamura, Yuji Mizuno, Kenji Araishi, Eriko Wakabayashi-Takai, Satoru Noguchi, Toshikuni Sasaoka, and Eijiro Ozawa

Biochemical evidence for association of dystrobrevin with the sarcoglycan–sarcospan complex as a basis for understanding sarcoglycanopathy
Hum. Mol. Genet. 2000 9: 1033-1040; doi:10.1093/hmg/9.7.1033 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Agnieszka Seyda, Gillian McEachern, Richard Haas, and Brian H. Robinson

Sequential deletion of C-terminal amino acids of the E₁ component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E₁₂ß₂ tetramers: implications for patients with PDH deficiency
Hum. Mol. Genet. 2000 9: 1041-1048; doi:10.1093/hmg/9.7.1041 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jesper Ekelund, Dirk Lichtermann, Iiris Hovatta, Pekka Ellonen, Jaana Suvisaari, Joseph D. Terwilliger, Hannu Juvonen, Teppo Varilo, Ritva Arajärvi, Marja-Liisa Kokko-Sahin, Jouko Lönnqvist, and Leena Peltonen

Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22
Hum. Mol. Genet. 2000 9: 1049-1057; doi:10.1093/hmg/9.7.1049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Lynn Rutkowski, Kunsheng Wu, David H. Gutmann, Philip J. Boyer, and Eric Legius

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
Hum. Mol. Genet. 2000 9: 1059-1066; doi:10.1093/hmg/9.7.1059 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sandra D. Dreyer, Roy Morello, Michael S. German, Bernhard Zabel, Andreas Winterpacht, Gregory P. Lunstrum, William A. Horton, Kerby C. Oberg, and Brendan Lee

LMX1B transactivation and expression in nail–patella syndrome
Hum. Mol. Genet. 2000 9: 1067-1074; doi:10.1093/hmg/9.7.1067 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kiven E. Lukong, Marc-André Elsliger, Yuan Chang, Catherine Richard, George Thomas, William Carey, Anna Tylki-Szymanska, Barbara Czartoryska, Tina Buchholz, German Rodríguez Criado, Silvia Palmeri, and Alexey V. Pshezhetsky

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex
Hum. Mol. Genet. 2000 9: 1075-1085; doi:10.1093/hmg/9.7.1075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yujing Liu, Yun-Ping Wu, Ryuichi Wada, Edward B. Neufeld, Katherine A. Mullin, April C. Howard, Peter G. Pentchev, Marie T. Vanier, Kinuko Suzuki, and Richard L. Proia

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann–Pick C disease mouse
Hum. Mol. Genet. 2000 9: 1087-1092; doi:10.1093/hmg/9.7.1087 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Louise Campbell, Kara M. D. Hunter, Payam Mohaghegh, Jonathon M. Tinsley, Michael A. Brasch, and Kay E. Davies

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?
Hum. Mol. Genet. 2000 9: 1093-1100; doi:10.1093/hmg/9.7.1093 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V. A. Smelt, A. Upton, J. Adjaye, M. A. Payton, S. Boukouvala, N. Johnson, H. J. Mardon, and E. Sim

Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos
Hum. Mol. Genet. 2000 9: 1101-1107; doi:10.1093/hmg/9.7.1101 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. L. Wiggs, R. R. Allingham, A. Hossain, J. Kern, J. Auguste, E. A. DelBono, B. Broomer, F. Lennon Graham, M. Hauser, M. Pericak-Vance, and J. L. Haines

Genome-wide scan for adult onset primary open angle glaucoma
Hum. Mol. Genet. 2000 9: 1109-1117; doi:10.1093/hmg/9.7.1109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jeremy P. Cheadle, Harinder Gill, Nick Fleming, Julie Maynard, Alison Kerr, Helen Leonard, Michael Krawczak, David N. Cooper, Sally Lynch, Nick Thomas, Helen Hughes, Maj Hulten, David Ravine, Julian R. Sampson, and Angus Clarke

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
Hum. Mol. Genet. 2000 9: 1119-1129; doi:10.1093/hmg/9.7.1119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ralf Sudbrak, Joanna Brown, Carol Dobson-Stone, Simon Carter, Juliane Ramser, Jacqueline White, Eugene Healy, Manel Dissanayake, Marc Larrègue, Marc Perrussel, Hans Lehrach, Colin S. Munro, Tom Strachan, Susan Burge, Alain Hovnanian, and Anthony P. Monaco

Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca²⁺ pump
Hum. Mol. Genet. 2000 9: 1131-1140; doi:10.1093/hmg/9.7.1131 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 2000 9: 1141-1142; doi:10.1093/hmg/9.7.1141 [PDF] [Request Permissions]  

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