Human Molecular Genetics

ARTICLES:

Kenji Araishi, Toshikuni Sasaoka, Michihiro Imamura, Satoru Noguchi, Hiroshi Hama, Eriko Wakabayashi, Mikiharu Yoshida, Tetsuro Hori, and Eijiro Ozawa

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in ß-sarcoglycan-deficient mice
Hum. Mol. Genet. 1999 8: 1589-1598; doi:10.1093/hmg/8.9.1589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David Horesh, Tamar Sapir, Fiona Francis, Sharon Grayer Wolf, Michal Caspi, Michael Elbaum, Jamel Chelly, and Orly Reiner

Doublecortin, a stabilizer of microtubules
Hum. Mol. Genet. 1999 8: 1599-1610; doi:10.1093/hmg/8.9.1599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anavaj Sakuntabhai, Susan Burge, Sarah Monk, and Alain Hovnanian

Spectrum of novel ATP2A2 mutations in patients with Darier’s disease
Hum. Mol. Genet. 1999 8: 1611-1619; doi:10.1093/hmg/8.9.1611 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Victor L. Ruiz-Perez, Simon A. Carter, Eugene Healy, Carole Todd, Jonathan L. Rees, Peter M. Steijlen, Andrew J. Carmichael, Helen M. Lewis, D. Hohl, Peter Itin, Anders Vahlquist, T. Gobello, C. Mazzanti, R. Reggazini, Gyula Nagy, Colin S. Munro, and Tom Strachan

ATP2A2 mutations in Darier’s disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
Hum. Mol. Genet. 1999 8: 1621-1630; doi:10.1093/hmg/8.9.1621 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nick J. O. Jacobsen, Ita Lyons, Bastiaan Hoogendoorn, Susan Burge, Pui-Yan Kwok, Michael C. O’Donovan, Nick Craddock, and Michael J. Owen

ATP2A2 mutations in Darier’s disease and their relationship to neuropsychiatric phenotypes
Hum. Mol. Genet. 1999 8: 1631-1636; doi:10.1093/hmg/8.9.1631 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joanna Coleman, Duncan M. Baird, and Nicola J. Royle

The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q
Hum. Mol. Genet. 1999 8: 1637-1646; doi:10.1093/hmg/8.9.1637 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jonathan M. Boutell, Philip Thomas, James W. Neal, Victoria J. Weston, James Duce, Peter S. Harper, and A. Lesley Jones

Aberrant interactions of transcriptional repressor proteins with the Huntington’s disease gene product, huntingtin
Hum. Mol. Genet. 1999 8: 1647-1655; doi:10.1093/hmg/8.9.1647 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael D. Kaytor, Lisa A. Duvick, Pamela J. Skinner, Michael D. Koob, Laura P. W. Ranum, and Harry T. Orr

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
Hum. Mol. Genet. 1999 8: 1657-1664; doi:10.1093/hmg/8.9.1657 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Olesia I. Buiakova, Jin Xu, Svetlana Lutsenko, Scott Zeitlin, Kamna Das, Shonit Das, Barbara M. Ross, Constantinos Mekios, I. Herbert Scheinberg, and T. Conrad Gilliam

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation
Hum. Mol. Genet. 1999 8: 1665-1671; doi:10.1093/hmg/8.9.1665 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ryusuke Toyama, Satoru Mukai, Atsushi Itagaki, Shigehiko Tamura, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Ronald J. A. Wanders, and Yukio Fujiki

Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants
Hum. Mol. Genet. 1999 8: 1673-1681; doi:10.1093/hmg/8.9.1673 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S. Odent, T. Attié-Bitach, M. Blayau, M. Mathieu, J. Augé, A. L. Delezoïde, J. Y. Le Gall, B. Le Marec, A. Munnich, V. David, and M. Vekemans

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
Hum. Mol. Genet. 1999 8: 1683-1689; doi:10.1093/hmg/8.9.1683 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andrew J. Williams, Melanie Murrell, Susan Brammah, Jim Minchenko, and John Christodoulou

A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G
Hum. Mol. Genet. 1999 8: 1691-1697; doi:10.1093/hmg/8.9.1691 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shea Ping Yip, Jenny U. Lovegrove, Naheed A. Rana, David A. Hopkinson, and David B. Whitehouse

Mapping recombination hotspots in human phosphoglucomutase (PGM1)
Hum. Mol. Genet. 1999 8: 1699-1706; doi:10.1093/hmg/8.9.1699 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angela Cox, Nicola J. Camp, Chris Cannings, Francesco S. di Giovine, Mark Dale, Jane Worthington, Sally John, William E. R. Ollier, Alan J. Silman, and Gordon W. Duff

Combined sib-TDT and TDT provide evidence for linkage of the interleukin-1 gene cluster to erosive rheumatoid arthritis
Hum. Mol. Genet. 1999 8: 1707-1713; doi:10.1093/hmg/8.9.1707 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

François Bertucci, Karine Bernard, Béatrice Loriod, Yi-Chung Chang, Samuel Granjeaud, Daniel Birnbaum, Catherine Nguyen, Konan Peck, and Bertrand R. Jordan

Sensitivity issues in DNA array-based expression measurements and performance of nylon microarrays for small samples
Hum. Mol. Genet. 1999 8: 1715-1722; doi:10.1093/hmg/8.9.1715 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shaun R. Donnelly, Tim E. Hawkins, and Stephen E. Moss

A conserved nuclear element with a role in mammalian gene regulation
Hum. Mol. Genet. 1999 8: 1723-1728; doi:10.1093/hmg/8.9.1723 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N. M. Williams, M. I. Rees, P. Holmans, N. Norton, A. G. Cardno, L. A. Jones, K. C. Murphy, R. D. Sanders, G. McCarthy, M. Y. Gray, I. Fenton, P. McGuffin, and M. J. Owen

A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs
Hum. Mol. Genet. 1999 8: 1729-1739; doi:10.1093/hmg/8.9.1729 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cécile Arnould, Christophe Philippe, Violaine Bourdon, Marie José Grégoire, Roland Berger, and Philippe Jonveaux

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor in acute promyelocytic-like leukaemia
Hum. Mol. Genet. 1999 8: 1741-1749; doi:10.1093/hmg/8.9.1741 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L. Vergani, R. Rossi, C. H. Brierley, M. Hanna, and I. J. Holt

Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human ° cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA
Hum. Mol. Genet. 1999 8: 1751-1755; doi:10.1093/hmg/8.9.1751 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daniela T. Pilz, Julie Kuc, Naomichi Matsumoto, Joann Bodurtha, Bruno Bernadi, Carlo A. Tassinari, William B. Dobyns, and David H. Ledbetter

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
Hum. Mol. Genet. 1999 8: 1757-1760; doi:10.1093/hmg/8.9.1757 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Akihiro Ikeda, Qing Yin Zheng, Philip Rosenstiel, Terry Maddatu, Aamir R. Zuberi, Derry C. Roopenian, Michael A. North, Jürgen K. Naggert, Kenneth R. Johnson, and Patsy M. Nishina

Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss
Hum. Mol. Genet. 1999 8: 1761-1767; doi:10.1093/hmg/8.9.1761 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martha Kalff-Suske, Anja Wild, Juliane Topp, Martina Wessling, Eva-Maria Jacobsen, Dorothea Bornholdt, Hartmut Engel, Heike Heuer, Cora M. Aalfs, Margreet G. E. M. Ausems, Rita Barone, Andreas Herzog, Peter Heutink, Tessa Homfray, Gabriele Gillessen-Kaesbach, Rainer König, Jürgen Kunze, Peter Meinecke, Dietmar Müller, Renata Rizzo, Sibylle Strenge, Andrea Superti-Furga, and Karl-Heinz Grzeschik

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome
Hum. Mol. Genet. 1999 8: 1769-1777; doi:10.1093/hmg/8.9.1769 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Raji P. Grewal, Geraldine Cancel, Esther P. Leeflang, Alexandra Dürr, Mary Sara McPeek, David Draghinas, Xiang Yao, Giovanni Stevanin, Marie-Odile Alnot, Alexis Brice, and Norman Arnheim

French Machado–Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis
Hum. Mol. Genet. 1999 8: 1779-1784; doi:10.1093/hmg/8.9.1779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nadège Bondurand, Kirsten Kuhlbrodt, Véronique Pingault, Janna Enderich, Marc Sajus, Niels Tommerup, Mette Warburg, Raoul C. M. Hennekam, Andrew P. Read, Michael Wegner, and Michel Goossens

A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies
Hum. Mol. Genet. 1999 8: 1785-1789; doi:10.1093/hmg/8.9.1785 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria D. Lalioti, Hamish S. Scott, and Stylianos E. Antonarakis

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1
Hum. Mol. Genet. 1999 8: 1791-1798; doi:10.1093/hmg/8.9.1791 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Reynir Arngrímsson, Sigrún Sigurardóttir, Michael L. Frigge, Ragnheiur I. Bjarnadóttir, Thorlákur Jónsson, Hreinn Stefánsson, Ásdís Baldursdóttir, Anna S. Einarsdóttir, Birgir Palsson, Steinunn Snorradóttir, A. M. A. Lachmeijer, Dan Nicolae, Augustine Kong, Birkir Thor Bragason, Jeffrey R. Gulcher, Reynir Tómas Geirsson, and Kári Stefánsson

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13
Hum. Mol. Genet. 1999 8: 1799-1805; doi:10.1093/hmg/8.9.1799 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zhen Li, Chris A. Karlovich, Matthew P. Fish, Matthew P. Scott, and Richard M. Myers

A putative Drosophila homolog of the Huntington’s disease gene
Hum. Mol. Genet. 1999 8: 1807-1815; doi:10.1093/hmg/8.9.1807 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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