Human Molecular Genetics

ARTICLES:

AR Jeffs, SM Benjes, TL Smith, SJ Sowerby, and CM Morris

The BCR gene recombines preferentially with Alu elements in complex BCR- ABL translocations of chronic myeloid leukaemia
Hum. Mol. Genet. 1998 7: 767-776; doi:10.1093/hmg/7.5.767 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SH Li and XJ Li

Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats
Hum. Mol. Genet. 1998 7: 777-782; doi:10.1093/hmg/7.5.777 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JK Cooper, G Schilling, MF Peters, WJ Herring, AH Sharp, Z Kaminsky, J Masone, FA Khan, M Delanoy, DR Borchelt, VL Dawson, TM Dawson, and CA Ross

Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture
Hum. Mol. Genet. 1998 7: 783-790; doi:10.1093/hmg/7.5.783 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Coles, R Caswell, and DC Rubinsztein

Functional analysis of the Huntington's disease (HD) gene promoter
Hum. Mol. Genet. 1998 7: 791-800; doi:10.1093/hmg/7.5.791 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RB Bar-Sade, A Kruglikova, B Modan, E Gak, G Hirsh-Yechezkel, L Theodor, I Novikov, R Gershoni-Baruch, S Risel, MZ Papa, G Ben-Baruch, and E Friedman

The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim
Hum. Mol. Genet. 1998 7: 801-805; doi:10.1093/hmg/7.5.801 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TC Pan, RZ Zhang, MA Pericak-Vance, R Tandan, T Fries, JM Stajich, K Viles, JM Vance, ML Chu, and MC Speer

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
Hum. Mol. Genet. 1998 7: 807-812; doi:10.1093/hmg/7.5.807 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Lako, S Lindsay, P Bullen, DI Wilson, SC Robson, and T Strachan

A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain
Hum. Mol. Genet. 1998 7: 813-822; doi:10.1093/hmg/7.5.813 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RH Crosbie, V Straub, HY Yun, JC Lee, JA Rafael, JS Chamberlain, VL Dawson, TM Dawson, and KP Campbell

mdx muscle pathology is independent of nNOS perturbation
Hum. Mol. Genet. 1998 7: 823-829; doi:10.1093/hmg/7.5.823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Guidotti, S Akli, L Castelnau-Ptakhine, A Kahn, and L Poenaru

Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells
Hum. Mol. Genet. 1998 7: 831-838; doi:10.1093/hmg/7.5.831 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EP Treacy, BR Akerman, LML Chow, R Youil, C Bibeau, J Lin, AG Bruce, M Knight, DM Danks, JR Cashman, and SM Forrest

Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication
Hum. Mol. Genet. 1998 7: 839-845; doi:10.1093/hmg/7.5.839 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Ofman, EH Hettema, EM Hogenhout, U Caruso, AO Muijsers, and RJ Wanders

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
Hum. Mol. Genet. 1998 7: 847-853; doi:10.1093/hmg/7.5.847 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Manilal, D Recan, CA Sewry, M Hoeltzenbein, S Llense, F Leturcq, N Deburgrave, J Barbot, N Man, F Muntoni, M Wehnert, J Kaplan, and GE Morris

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
Hum. Mol. Genet. 1998 7: 855-864; doi:10.1093/hmg/7.5.855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Chang, MJ Rosenberg, H Morton, CA Francomano, and LG Biesecker

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI
Hum. Mol. Genet. 1998 7: 865-870; doi:10.1093/hmg/7.5.865 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EM McNally, E de Sa Moreira, DJ Duggan, CG Bonnemann, MP Lisanti, HGW Lidov, M Vainzof, MR Passos-Bueno, EP Hoffman, M Zatz, and LM Kunkel

Caveolin-3 in muscular dystrophy
Hum. Mol. Genet. 1998 7: 871-877; doi:10.1093/hmg/7.5.871 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MC Fondaneche, J Villard, W Wiszniewski, E Jouanguy, A Etzioni, F Le Deist, A Peijnenburg, JL Casanova, W Reith, B Mach, A Fischer, and B Lisowska- Grospierre

Genetic and molecular definition of complementation group D in MHC class II deficiency
Hum. Mol. Genet. 1998 7: 879-885; doi:10.1093/hmg/7.5.879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Baumer, F Dutly, D Balmer, M Riegel, T Tukel, M Krajewska-Walasek, and AA Schinzel

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions
Hum. Mol. Genet. 1998 7: 887-894; doi:10.1093/hmg/7.5.887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Karnik, M Paris, BR Williams, G Casey, J Crowe, and P Chen

Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer progression and metastasis
Hum. Mol. Genet. 1998 7: 895-903; doi:10.1093/hmg/7.5.895 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Christodoulou, M Tsingis, C Stavrou, A Eleftheriou, P Papapavlou, PC Patsalis, P Ioannou, A Pierides, and C Constantinou Deltas

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
Hum. Mol. Genet. 1998 7: 905-911; doi:10.1093/hmg/7.5.905 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Holmberg, C Duyckaerts, A Durr, G Cancel, I Gourfinkel-An, P Damier, B Faucheux, Y Trottier, EC Hirsch, Y Agid, and A Brice

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions
Hum. Mol. Genet. 1998 7: 913-918; doi:10.1093/hmg/7.5.913 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MQ Zhang

Statistical features of human exons and their flanking regions
Hum. Mol. Genet. 1998 7: 919-932; doi:10.1093/hmg/7.5.919 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Brindle, Y Song, E Rogaeva, S Premkumar, G Levesque, G Yu, M Ikeda, M Nishimura, A Paterson, S Sorbi, R Duara, L Farrer, and P St George-Hyslop

Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease
Hum. Mol. Genet. 1998 7: 933-935; doi:10.1093/hmg/7.5.933 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AB Singleton, G Smith, AM Gibson, R Woodward, RH Perry, PG Ince, JA Edwardson, and CM Morris

No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease
Hum. Mol. Genet. 1998 7: 937-939; doi:10.1093/hmg/7.5.937 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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