Human Molecular Genetics

ARTICLES:

Hiroki Kurahashi and Beverly S. Emanuel

Long AT-rich palindromes and the constitutional t(11;22) breakpoint
Hum. Mol. Genet. 2001 10: 2605-2617; doi:10.1093/hmg/10.23.2605 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Daiya Takai, Felicidad A. Gonzales, Yvonne C. Tsai, Mathew J. Thayer, and Peter A. Jones

Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer
Hum. Mol. Genet. 2001 10: 2619-2626; doi:10.1093/hmg/10.23.2619 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carlo Bastianutto, Jennifer A. Bestard, Karina Lahnakoski, Daniel Broere, Marianne De Visser, Manuela Zaccolo, Tullio Pozzan, Alessandra Ferlini, Francesco Muntoni, Tomaso Patarnello, and Henry J. Klamut

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy
Hum. Mol. Genet. 2001 10: 2627-2635; doi:10.1093/hmg/10.23.2627 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Li Liu, Stefania Cotta Doné, Jamshid Khoshnoodi, Alejandro Bertorello, Jorma Wartiovaara, Per-Olof Berggren, and Karl Tryggvason

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome
Hum. Mol. Genet. 2001 10: 2637-2644; doi:10.1093/hmg/10.23.2637 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard Paylor, Kellie L. McIlwain, Robin McAninch, Anna Nellis, Lisa A. Yuva-Paylor, Antonio Baldini, and Elizabeth A. Lindsay

Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
Hum. Mol. Genet. 2001 10: 2645-2650; doi:10.1093/hmg/10.23.2645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tetsuya Otsuki, Yusuke Furukawa, Keiko Ikeda, Hitoshi Endo, Takayuki Yamashita, Azusa Shinohara, Akihiko Iwamatsu, Keiya Ozawa, and Johnson M. Liu

Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex
Hum. Mol. Genet. 2001 10: 2651-2660; doi:10.1093/hmg/10.23.2651 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fyodor A. Kondrashov and Eugene V. Koonin

Origin of alternative splicing by tandem exon duplication
Hum. Mol. Genet. 2001 10: 2661-2669; doi:10.1093/hmg/10.23.2661 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Noah F. Shroyer, Richard Alan Lewis, Alexander N. Yatsenko, Theodore G. Wensel, and James R. Lupski

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
Hum. Mol. Genet. 2001 10: 2671-2678; doi:10.1093/hmg/10.23.2671 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark Harland, Sushila Mistry, D. Timothy Bishop, and Julia A. Newton Bishop

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees
Hum. Mol. Genet. 2001 10: 2679-2686; doi:10.1093/hmg/10.23.2679 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maren Runte, Alexander Hüttenhofer, Stephanie Groß, Martin Kiefmann, Bernhard Horsthemke, and Karin Buiting

The IC-SNURF–SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
Hum. Mol. Genet. 2001 10: 2687-2700; doi:10.1093/hmg/10.23.2687 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lily Ng, Alfons Rüsch, Lori L. Amma, Kristina Nordström, Lawrence C. Erway, Björn Vennström, and Douglas Forrest

Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor gene
Hum. Mol. Genet. 2001 10: 2701-2708; doi:10.1093/hmg/10.23.2701 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Junko Matsuda, Marie T. Vanier, Yuko Saito, Kinuko Suzuki, and Kunihiko Suzuki

Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor
Hum. Mol. Genet. 2001 10: 2709-2715; doi:10.1093/hmg/10.23.2709 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hervé Seznec, Onnik Agbulut, Nicolas Sergeant, Cédric Savouret, Antoine Ghestem, Nacira Tabti, Jean-Claude Willer, Lucie Ourth, Chantal Duros, Edith Brisson, Coralie Fouquet, Gillian Butler-Browne, André Delacourte, Claudine Junien, and Geneviève Gourdon

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities
Hum. Mol. Genet. 2001 10: 2717-2726; doi:10.1093/hmg/10.23.2717 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christine J. DiDonato, Christian L. Lorson, Yves De Repentigny, Louise Simard, Chantal Chartrand, Elliot J. Androphy, and Rashmi Kothary

Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing
Hum. Mol. Genet. 2001 10: 2727-2736; doi:10.1093/hmg/10.23.2727 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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