Human Molecular Genetics

ARTICLES:

J Houtek, P Klement, D Floryk, H Antonicka, J Hermanska, M Kalous, H Hansikova, H Hout'kova, SK Chowdhury, t Rosipal, S Kmoch, L Stratilova, and J Zeman

A novel deficiency of mitochondrial ATPase of nuclear origin
Hum. Mol. Genet. 1999 8: 1967-1974; doi:10.1093/hmg/8.11.1967 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Amack, AP Paguio, and MS Mahadevan

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
Hum. Mol. Genet. 1999 8: 1975-1984; doi:10.1093/hmg/8.11.1975 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GP Larson, S Ding, RG Lafreniere, GA Rouleau, and TG Krontiris

Instability of the EPM1 minisatellite
Hum. Mol. Genet. 1999 8: 1985-1988; doi:10.1093/hmg/8.11.1985 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Geneste, C Bidaud, GD Vita, RM Hofstra, S Tartare-Deckert, CH Buys, GM Lenoir, M Santoro, and M Billaud

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site
Hum. Mol. Genet. 1999 8: 1989-1999; doi:10.1093/hmg/8.11.1989 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TH Lindner, PR Njolstad, Y Horikawa, L Bostad, GI Bell, and O Sovik

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta
Hum. Mol. Genet. 1999 8: 2001-2008; doi:10.1093/hmg/8.11.2001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Wilson, D Leclerc, DS Rosenblatt, and RA Gravel

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
Hum. Mol. Genet. 1999 8: 2009-2016; doi:10.1093/hmg/8.11.2009 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Gromoll, GF Weinbauer, H Skaletsky, S Schlatt, M Rocchietti-March, DC Page, and E Nieschlag

The old world monkey DAZ (Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome
Hum. Mol. Genet. 1999 8: 2017-2024; doi:10.1093/hmg/8.11.2017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CL Scholtz, AV Peeters, CF Hoogendijk, R Thiart, JN Villiers, R Hillermann, J Liu, AD Marais, and MJ Kotze

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a south african family with familial hypercholesterolaemia
Hum. Mol. Genet. 1999 8: 2025-2030; doi:10.1093/hmg/8.11.2025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GC Black, R Perveen, R Bonshek, M Cahill, J Clayton-Smith, IC Lloyd, and D McLeod

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis
Hum. Mol. Genet. 1999 8: 2031-2035; doi:10.1093/hmg/8.11.2031 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Jiang, P Pakarinen, FP Zhang, T El-Hefnawy, P Koskimies, K Pettersson, and I Huhtaniemi

A common polymorphic allele of the human luteinizing hormone beta- subunit gene: additional mutations and differential function of the promoter sequence
Hum. Mol. Genet. 1999 8: 2037-2046; doi:10.1093/hmg/8.11.2037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, and S Tsuji

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? [In Process Citation]
Hum. Mol. Genet. 1999 8: 2047-2053; doi:10.1093/hmg/8.11.2047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Brandt, L Schleithoff, K Jurkat-Rott, W Klingler, C Baur, and F Lehmann-Horn

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test
Hum. Mol. Genet. 1999 8: 2055-2062; doi:10.1093/hmg/8.11.2055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SD Cramer, PM Ferree, K Lin, DS Milliner, and RP Holmes

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II
Hum. Mol. Genet. 1999 8: 2063-2069; doi:10.1093/hmg/8.11.2063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Glaser, D Myrtek, Y Rumpler, K Schiebel, M Hauwy, GA Rappold, and W Schempp

Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates [In Process Citation]
Hum. Mol. Genet. 1999 8: 2071-2078; doi:10.1093/hmg/8.11.2071 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Ezer, M Bayes, O Elomaa, D Schlessinger, and J Kere

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
Hum. Mol. Genet. 1999 8: 2079-2086; doi:10.1093/hmg/8.11.2079 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Ogorelkova, A Gruber, and G Utermann

Molecular basis of congenital lp(a) deficiency: a frequent apo(a) 'null' mutation in caucasians
Hum. Mol. Genet. 1999 8: 2087-2096; doi:10.1093/hmg/8.11.2087 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Chavanas, Y Gache, J Vailly, J Kanitakis, L Pulkkinen, J Uitto, J Ortonne, and G Meneguzzi

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
Hum. Mol. Genet. 1999 8: 2097-2105; doi:10.1093/hmg/8.11.2097 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Petris and JF Mercer

The menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal
Hum. Mol. Genet. 1999 8: 2107-2115; doi:10.1093/hmg/8.11.2107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MA Jobling, E Heyer, P Dieltjes, and P Knijff

Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1
Hum. Mol. Genet. 1999 8: 2117-2120; doi:10.1093/hmg/8.11.2117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SJ Bowne, SP Daiger, MM Hims, MM Sohocki, KA Malone, AB McKie, JR Heckenlively, DG Birch, CF Inglehearn, SS Bhattacharya, A Bird, and LS Sullivan

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 1999 8: 2121-2128; doi:10.1093/hmg/8.11.2121 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 2129; doi:10.1093/hmg/8.11.2129 [PDF] [Request Permissions]  

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