Human Molecular Genetics

ARTICLES:

Y Oike, A Hata, T Mamiya, T Kaname, Y Noda, M Suzuki, H Yasue, T Nabeshima, K Araki, and K Yamamura

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism
Hum. Mol. Genet. 1999 8: 387-396; doi:10.1093/hmg/8.3.387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Schilling, MW Becher, AH Sharp, HA Jinnah, K Duan, JA Kotzuk, HH Slunt, T Ratovitski, JK Cooper, NA Jenkins, NG Copeland, DL Price, CA Ross, and DR Borchelt

Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Hum. Mol. Genet. 1999 8: 397-407; doi:10.1093/hmg/8.3.397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Mustapha, D Weil, S Chardenoux, S Elias, E El-Zir, JS Beckmann, J Loiselet, and C Petit

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
Hum. Mol. Genet. 1999 8: 409-412; doi:10.1093/hmg/8.3.409 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TM Wagner, K Hirtenlehner, P Shen, R Moeslinger, D Muhr, E Fleischmann, H Concin, W Doeller, A Haid, AH Lang, P Mayer, E Petru, E Ropp, G Langbauer, E Kubista, O Scheiner, P Underhill, J Mountain, M Stierer, C Zielinski, and P Oefner

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717-9]
Hum. Mol. Genet. 1999 8: 413-423; doi:10.1093/hmg/8.3.413 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Wong, J Yang, P Cavadini, C Gellera, B Lonnerdal, F Taroni, and G Cortopassi

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
Hum. Mol. Genet. 1999 8: 425-430; doi:10.1093/hmg/8.3.425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Wang, J Darling, JS Zhang, H Huang, W Liu, and DI Smith

Allele-specific late replication and fragility of the most active common fragile site, FRA3B
Hum. Mol. Genet. 1999 8: 431-437; doi:10.1093/hmg/8.3.431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AB Skvorak, Z Weng, AJ Yee, NG Robertson, and CC Morton

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness
Hum. Mol. Genet. 1999 8: 439-452; doi:10.1093/hmg/8.3.439 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Takiyama, K Sakoe, M Amaike, M Soutome, T Ogawa, I Nakano, and M Nishizawa

Single sperm analysis of the CAG repeats in the gene for dentatorubral- pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases
Hum. Mol. Genet. 1999 8: 453-457; doi:10.1093/hmg/8.3.453 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TH Huang, MR Perry, and DE Laux

Methylation profiling of CpG islands in human breast cancer cells
Hum. Mol. Genet. 1999 8: 459-470; doi:10.1093/hmg/8.3.459 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LK Sprunger, A Escayg, S Tallaksen-Greene, RL Albin, and MH Meisler

Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3
Hum. Mol. Genet. 1999 8: 471-479; doi:10.1093/hmg/8.3.471 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CL Winchester, RK Ferrier, A Sermoni, BJ Clark, and KJ Johnson

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
Hum. Mol. Genet. 1999 8: 481-492; doi:10.1093/hmg/8.3.481 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Surono, Y Takeshima, T Wibawa, M Ikezawa, I Nonaka, and M Matsuo

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
Hum. Mol. Genet. 1999 8: 493-500; doi:10.1093/hmg/8.3.493 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

BJ van de Sluis, M Breen, M Nanji, M van Wolferen, P de Jong, MM Binns, PL Pearson, J Kuipers, J Rothuizen, DW Cox, C Wijmenga, and BA van Oost

Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13- p16
Hum. Mol. Genet. 1999 8: 501-507; doi:10.1093/hmg/8.3.501 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Koptides, C Hadjimichael, P Koupepidou, A Pierides, and C Constantinou Deltas

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease
Hum. Mol. Genet. 1999 8: 509-513; doi:10.1093/hmg/8.3.509 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Ding, GP Larson, K Foldenauer, G Zhang, and TG Krontiris

Distinct mutation patterns of breast cancer-associated alleles of the HRAS1 minisatellite locus
Hum. Mol. Genet. 1999 8: 515-521; doi:10.1093/hmg/8.3.515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Kremmidiotis, IL Lensink, RL Bilton, E Woollatt, TK Chataway, GR Sutherland, and DF Callen

The Batten disease gene product (CLN3p) is a Golgi integral membrane protein
Hum. Mol. Genet. 1999 8: 523-531; doi:10.1093/hmg/8.3.523 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Ji, MJ Walkowicz, K Buiting, DK Johnson, RE Tarvin, EM Rinchik, B Horsthemke, L Stubbs, and RD Nicholls

The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
Hum. Mol. Genet. 1999 8: 533-542; doi:10.1093/hmg/8.3.533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Hughes, CJ Ward, R Aspinwall, R Butler, and PC Harris

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein
Hum. Mol. Genet. 1999 8: 543-549; doi:10.1093/hmg/8.3.543 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 551; doi:10.1093/hmg/8.3.551 [PDF] [Request Permissions]  

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