Human Molecular Genetics

ARTICLES:

Michal Caspi, Roee Atlas, Ayelet Kantor, Tamar Sapir, and Orly Reiner

Interaction between LIS1 and doublecortin, two lissencephaly gene products
Hum. Mol. Genet. 2000 9: 2205-2213. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hanan Lamlum, Nada Al Tassan, Emma Jaeger, Ian Frayling, Oliver Sieber, Faisal Bin Reza, Maria Eckert, Andrew Rowan, Ella Barclay, Wendy Atkin, Christopher Williams, John Gilbert, Jeremy Cheadle, Jennie Bell, Richard Houlston, Walter Bodmer, Julian Sampson, and Ian Tomlinson

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q
Hum. Mol. Genet. 2000 9: 2215-2221. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

François Blondeau, Jocelyn Laporte, Stephane Bodin, Giulio Superti-Furga, Bernard Payrastre, and Jean-Louis Mandel

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
Hum. Mol. Genet. 2000 9: 2223-2229. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Natalie A. Little, Nicholas D. Hastie, and Rachel C. Davies

Identification of WTAP, a novel Wilms’ tumour 1-associating protein
Hum. Mol. Genet. 2000 9: 2231-2239. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takefumi Furuya, Jennifer L. Salstrom, Shawna McCall-Vining, Grant W. Cannon, Bina Joe, Elaine F. Remmers, Marie M. Griffiths, and Ronald L. Wilder

Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier loci
Hum. Mol. Genet. 2000 9: 2241-2250. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Subramaniam Ganesh, Kishan Lal Agarwala, Kazunori Ueda, Takumi Akagi, Keiko Shoda, Takeo Usui, Tsutomu Hashikawa, Hiroyuki Osada, Antonio V. Delgado-Escueta, and Kazuhiro Yamakawa

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
Hum. Mol. Genet. 2000 9: 2251-2261. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bruce M. Cattanach, Josephine Peters, Simon Ball, and Carol Rasberry

Two imprinted gene mutations: three phenotypes
Hum. Mol. Genet. 2000 9: 2263-2273. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jean-Charles Lambert, Louisa Goumidi, Fabienne Wavrant-De Vrièze, Bernard Frigard, Judith M. Harris, Alistair Cummings, John Coates, Florence Pasquier, Dominique Cottel, Marianne Gaillac, David St Clair, David M.A. Mann, John Hardy, Corinne L. Lendon, Philippe Amouyel, and Marie-Christine Chartier-Harlin

The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer’s disease
Hum. Mol. Genet. 2000 9: 2275-2280. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroshi Tanahashi and Takeshi Tabira

Alzheimer’s disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein
Hum. Mol. Genet. 2000 9: 2281-2289. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chao Sun, Helen Skaletsky, Steve Rozen, Jörg Gromoll, Eberhard Nieschlag, Robert Oates, and David C. Page

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
Hum. Mol. Genet. 2000 9: 2291-2296. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alessandro Beghini, Carla B. Ripamonti, Paolo Peterlongo, Gaia Roversi, Roberto Cairoli, Enrica Morra, and Lidia Larizza

RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia
Hum. Mol. Genet. 2000 9: 2297-2304. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jennifer D. Davidson, Brigit Riley, Eric N. Burright, Lisa A. Duvick, Huda Y. Zoghbi, and Harry T. Orr

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein
Hum. Mol. Genet. 2000 9: 2305-2312. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J. Paul Mounsey, Dilaawar J. Mistry, Cui Wei Ai, Sita Reddy, and J. Randall Moorman

Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase
Hum. Mol. Genet. 2000 9: 2313-2320. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Angelo Calado, Fernando M.S. Tomé, Bernard Brais, G.A. Rouleau, Uwe Kühn, Elmar Wahle, and Maria Carmo-Fonseca

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
Hum. Mol. Genet. 2000 9: 2321-2328. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Peter Francis, Jean-Ju Chung, Masato Yasui, Vanita Berry, Anthony Moore, M. Keith Wyatt, Graeme Wistow, Shomi S. Bhattacharya, and Peter Agre

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts
Hum. Mol. Genet. 2000 9: 2329-2334. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ralf Herrmann, Volker Straub, Martina Blank, Christian Kutzick, Nicola Franke, Eva Neuen Jacob, Hans-Gerd Lenard, Stephan Kröger, and Thomas Voit

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
Hum. Mol. Genet. 2000 9: 2335-2340. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

José M. Rodríguez, David E. Timm, Gregory P. Titus, D. Beltrán-Valero de Bernabé, O. Criado, Heather A. Mueller, S. Rodríguez de Córdoba, and M.A. Peñalva

Structural and functional analysis of mutations in alkaptonuria
Hum. Mol. Genet. 2000 9: 2341-2350. [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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