Human Molecular Genetics

REPORTS:

Matthew A. Brown, Sarah Edwards, Emma Hoyle, Sarah Campbell, Steven Laval, Ann K. Daly, Kevin D. Pile, Andrei Calin, Alan Ebringer, Daniel E. Weeks, and B. Paul Wordsworth

Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis
Hum. Mol. Genet. 2000 9: 1563-1566; doi:10.1093/hmg/9.11.1563 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daniel R. Scoles, Duong P. Huynh, Mercy S. Chen, Stephen P. Burke, David H. Gutmann, and Stefan-M. Pulst

The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate
Hum. Mol. Genet. 2000 9: 1567-1574; doi:10.1093/hmg/9.11.1567 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena V. Semina, Jeffrey C. Murray, Rebecca Reiter, Ronald F. Hrstka, and Jochen Graw

Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice
Hum. Mol. Genet. 2000 9: 1575-1585; doi:10.1093/hmg/9.11.1575 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nadya Blagitko, Susanne Mergenthaler, Ute Schulz, Hartmut A. Wollmann, William Craigen, Thomas Eggermann, Hans-Hilger Ropers, and Vera M. Kalscheuer

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
Hum. Mol. Genet. 2000 9: 1587-1595; doi:10.1093/hmg/9.11.1587 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Claudia Mitchell, Alexandre Mignon, Jacques E. Guidotti, Sandrine Besnard, Monique Fabre, Nicolas Duverger, David Parlier, Alain Tedgui, Axel Kahn, and Hélène Gilgenkrantz

Therapeutic liver repopulation in a mouse model of hypercholesterolemia
Hum. Mol. Genet. 2000 9: 1597-1602; doi:10.1093/hmg/9.11.1597 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tomoko Iwata, Lin Chen, Cui-ling Li, Dmitry A. Ovchinnikov, Richard R. Behringer, Clair A. Francomano, and Chu-Xia Deng

A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos
Hum. Mol. Genet. 2000 9: 1603-1613; doi:10.1093/hmg/9.11.1603 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Riko Klootwijk, Barbara Franke, Catharina E. E. M. van der Zee, Roelie T. de Boer, Wiljan Wilms, Frans A. Hol, and Edwin C. M. Mariman

A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects
Hum. Mol. Genet. 2000 9: 1615-1622; doi:10.1093/hmg/9.11.1615 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thomas A. Ebersole, Andrew Ross, Elma Clark, Niolette McGill, Dirk Schindelhauer, Howard Cooke, and Brenda Grimes

Mammalian artificial chromosome formation from circular alphoid input DNA does not require telomere repeats
Hum. Mol. Genet. 2000 9: 1623-1631; doi:10.1093/hmg/9.11.1623 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Oliver Gimm, Tania Attié-Bitach, Jacqueline A. Lees, Michel Vekemans, and Charis Eng

Expression of the PTEN tumour suppressor protein during human development
Hum. Mol. Genet. 2000 9: 1633-1639; doi:10.1093/hmg/9.11.1633 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Oxana Ibraghimov-Beskrovnaya, Nikolay O. Bukanov, Lincoln C. Donohue, William R. Dackowski, Katherine W. Klinger, and Gregory M. Landes

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1
Hum. Mol. Genet. 2000 9: 1641-1649; doi:10.1093/hmg/9.11.1641 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Karin Ried, Merran Finnis, Lynne Hobson, Marie Mangelsdorf, Sonia Dayan, Julie K. Nancarrow, Erica Woollatt, Gabriel Kremmidiotis, Alison Gardner, Deon Venter, Elizabeth Baker, and Robert I. Richards

Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells
Hum. Mol. Genet. 2000 9: 1651-1663; doi:10.1093/hmg/9.11.1651 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroki Kurahashi, Tamim H. Shaikh, Ping Hu, Bruce A. Roe, Beverly S. Emanuel, and Marcia L. Budarf

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
Hum. Mol. Genet. 2000 9: 1665-1670; doi:10.1093/hmg/9.11.1665 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pamela L. Strissel, Reiner Strick, Ronald J. Tomek, Bruce A. Roe, Janet D. Rowley, and Nancy J. Zeleznik-Le

DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis
Hum. Mol. Genet. 2000 9: 1671-1679; doi:10.1093/hmg/9.11.1671 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Juan J. Fuentes, Lali Genescà, Tami J. Kingsbury, Kyle W. Cunningham, Mercè Pérez-Riba, Xavier Estivill, and Susana de la Luna

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways
Hum. Mol. Genet. 2000 9: 1681-1690; doi:10.1093/hmg/9.11.1681 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liina Lonka, Aija Kyttälä, Susanna Ranta, Anu Jalanko, and Anna-Elina Lehesjoki

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
Hum. Mol. Genet. 2000 9: 1691-1697; doi:10.1093/hmg/9.11.1691 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jun Tohyama, Marie T. Vanier, Kinuko Suzuki, Takanori Ezoe, Junko Matsuda, and Kunihiko Suzuki

Paradoxical influence of acid ß-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)
Hum. Mol. Genet. 2000 9: 1699-1707; doi:10.1093/hmg/9.11.1699 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Daryl A. Scott, Rong Wang, Trisha M. Kreman, Mike Andrews, Joshua M. McDonald, Jeffrey R. Bishop, Richard J.H. Smith, Lawrence P. Karniski, and Val C. Sheffield

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
Hum. Mol. Genet. 2000 9: 1709-1715; doi:10.1093/hmg/9.11.1709 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

Erratum
Hum. Mol. Genet. 2000 9: 1717; doi:10.1093/hmg/9.11.1717 [PDF] [Request Permissions]  

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