Human Molecular Genetics

COMMENTARY:

Jørn Koch

Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA
Hum. Mol. Genet. 2000 9: 149-154; doi:10.1093/hmg/9.2.149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES:

Sakae Ikeda, Nima Shiva, Akihiro Ikeda, Richard S. Smith, Steven Nusinowitz, Grace Yan, T. Richard Lin, Sunny Chu, John R. Heckenlively, Michael A. North, Jürgen K. Naggert, Patsy M. Nishina, and Mabel P. Duyao

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
Hum. Mol. Genet. 2000 9: 155-163; doi:10.1093/hmg/9.2.155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francoise Fougerousse, Philip Bullen, Muriel Herasse, Susan Lindsay, Isabelle Richard, David Wilson, Laurence Suel, Muriel Durand, Steve Robson, Marc Abitbol, Jacques S. Beckmann, and Tom Strachan

Human–mouse differences in the embryonic expression patterns of developmental control genes and disease genes
Hum. Mol. Genet. 2000 9: 165-173; doi:10.1093/hmg/9.2.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Richard Saffery, Danielle V. Irvine, Belinda Griffiths, Paul Kalitsis, Linda Wordeman, and K.H. Andy Choo

Human centromeres and neocentromeres show identical distribution patterns of >20 functionally important kinetochore-associated proteins.
Hum. Mol. Genet. 2000 9: 175-185; doi:10.1093/hmg/9.2.175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elizabeth Earle, Alka Saxena, Andrew MacDonald, Damien F. Hudson, Lisa G. Shaffer, Richard Saffery, Michael R. Cancilla, Suzanne M. Cutts, Emily Howman, and K. H. Andy Choo

Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase
Hum. Mol. Genet. 2000 9: 187-194; doi:10.1093/hmg/9.2.187 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura L. Baxter, Timothy H. Moran, Joan T. Richtsmeier, Juan Troncoso, and Roger H. Reeves

Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse
Hum. Mol. Genet. 2000 9: 195-202; doi:10.1093/hmg/9.2.195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dirk Prawitt, Thorsten Enklaar, Gabi Klemm, Barbara Gärtner, Christian Spangenberg, Andreas Winterpacht, Michael Higgins, Jerry Pelletier, and Bernhard Zabel

Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression
Hum. Mol. Genet. 2000 9: 203-216; doi:10.1093/hmg/9.2.203 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dawn Belt Davis, Anthony J. Delmonte, Chantal T. Ly, and Elizabeth M. McNally

Myoferlin, a candidate gene and potential modifier of muscular dystrophy
Hum. Mol. Genet. 2000 9: 217-226; doi:10.1093/hmg/9.2.217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Antonio Faiella, Marius Wernig, G. Giacomo Consalez, Ute Hostick, Clementine Hofmann, Elisabeth Hustert, Edoardo Boncinelli, Rudi Balling, and Joseph H. Nadeau

A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression
Hum. Mol. Genet. 2000 9: 227-236; doi:10.1093/hmg/9.2.227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elisabet Ars, Eduard Serra, Judit García, Helena Kruyer, Antonia Gaona, Conxi Lázaro, and Xavier Estivill

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
Hum. Mol. Genet. 2000 9: 237-247; doi:10.1093/hmg/9.2.237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Orit Segev, Irina Chumakov, Zvi Nevo, David Givol, Liora Madar-Shapiro, Yuri Sheinin, Miron Weinreb, and Avner Yayon

Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3^G380R transgenic mice
Hum. Mol. Genet. 2000 9: 249-258; doi:10.1093/hmg/9.2.249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian L. Lorson and Elliot J. Androphy

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
Hum. Mol. Genet. 2000 9: 259-265; doi:10.1093/hmg/9.2.259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ryan A. Irvine, Han Ma, Mimi C. Yu, Ronald K. Ross, Michael R. Stallcup, and Gerhard A. Coetzee

Inhibition of p160-mediated coactivation with increasing androgen receptor polyglutamine length
Hum. Mol. Genet. 2000 9: 267-274; doi:10.1093/hmg/9.2.267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J.L. Bradley, J.C. Blake, S. Chamberlain, P.K. Thomas, J.M. Cooper, and A.H.V. Schapira

Clinical, biochemical and molecular genetic correlations in Friedreich’s ataxia
Hum. Mol. Genet. 2000 9: 275-282; doi:10.1093/hmg/9.2.275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ginevra Guanti, Nicoletta Resta, Cristiano Simone, Filomena Cariola, Ignazio Demma, Paola Fiorente, and Mattia Gentile

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis
Hum. Mol. Genet. 2000 9: 283-287; doi:10.1093/hmg/9.2.283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Eric Lacazette, Anne-Marie Gachon, and Gilles Pitiot

A novel human odorant-binding protein gene family resulting from genomic duplicons at 9q34: differential expression in the oral and genital spheres
Hum. Mol. Genet. 2000 9: 289-301; doi:10.1093/hmg/9.2.289 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W. Scheper, R. Zwart, P. van der Sluijs, W. Annaert, W.A. van Gool, and F. Baas

Alzheimer’s presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor
Hum. Mol. Genet. 2000 9: 303-310; doi:10.1093/hmg/9.2.303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bruce T. Lahn and David C. Page

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins
Hum. Mol. Genet. 2000 9: 311-319; doi:10.1093/hmg/9.2.311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 2000 9: 321; doi:10.1093/hmg/9.2.321 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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