Human Molecular Genetics

REVIEWS:

D Kipling

Mammalian telomerase: catalytic subunit and knockout mice
Hum. Mol. Genet. 1997 6: 1999-2004; doi:10.1093/hmg/6.12.1999 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SE Andrew, YP Goldberg, and MR Hayden

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
Hum. Mol. Genet. 1997 6: 2005-2010; doi:10.1093/hmg/6.12.2005 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES:

A Kilian, DD Bowtell, HE Abud, GR Hime, DJ Venter, PK Keese, EL Duncan, RR Reddel, and RA Jefferson

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types
Hum. Mol. Genet. 1997 6: 2011-2019; doi:10.1093/hmg/6.12.2011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Qian, D Frank, D O'Keefe, D Dao, L Zhao, L Yuan, Q Wang, M Keating, C Walsh, and B Tycko

The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis
Hum. Mol. Genet. 1997 6: 2021-2029; doi:10.1093/hmg/6.12.2021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Heckel, N Brass, U Fischer, N Blin, I Steudel, O Tureci, O Fackler, KD Zang, and E Meese

cDNA cloning and chromosomal mapping of a predicted coiled-coil proline- rich protein immunogenic in meningioma patients
Hum. Mol. Genet. 1997 6: 2031-2041; doi:10.1093/hmg/6.12.2031 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Brodsky, T Barnes, J Bleskan, L Becker, M Cox, and D Patterson

The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome
Hum. Mol. Genet. 1997 6: 2043-2050; doi:10.1093/hmg/6.12.2043 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Drouin, M Angers, N Dallaire, TM Rose, W Khandjian, and F Rousseau

Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region
Hum. Mol. Genet. 1997 6: 2051-2060; doi:10.1093/hmg/6.12.2051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Harland, R Meloni, N Gruis, E Pinney, S Brookes, NK Spurr, AM Frischauf, V Bataille, G Peters, J Cuzick, P Selby, DT Bishop, and JN Bishop

Germline mutations of the CDKN2 gene in UK melanoma families
Hum. Mol. Genet. 1997 6: 2061-2067; doi:10.1093/hmg/6.12.2061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Laitinen, P Kauppi, J Ignatius, T Ruotsalainen, MJ Daly, H Kaariainen, L Kruglyak, H Laitinen, A de la Chapelle, ES Lander, LA Laitinen, and J Kere

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population
Hum. Mol. Genet. 1997 6: 2069-2076; doi:10.1093/hmg/6.12.2069 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Julier, M Delepine, B Keavney, J Terwilliger, S Davis, DE Weeks, T Bui, X Jeunemaitre, G Velho, P Froguel, P Ratcliffe, P Corvol, F Soubrier, and GM Lathrop

Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10
Hum. Mol. Genet. 1997 6: 2077-2085; doi:10.1093/hmg/6.12.2077 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CB Eckman, ND Mehta, R Crook, J Perez-tur, G Prihar, E Pfeiffer, N Graff- Radford, P Hinder, D Yager, B Zenk, LM Refolo, CM Prada, SG Younkin, M Hutton, and J Hardy

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)
Hum. Mol. Genet. 1997 6: 2087-2089; doi:10.1093/hmg/6.12.2087 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MF Adam, A Belmouden, P Binisti, AP Brezin, F Valtot, A Bechetoille, JC Dascotte, B Copin, L Gomez, A Chaventre, JF Bach, and HJ Garchon

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
Hum. Mol. Genet. 1997 6: 2091-2097; doi:10.1093/hmg/6.12.2091 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Mak, KA Jarvi, J Zielenski, P Durie, and LC Tsui

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens
Hum. Mol. Genet. 1997 6: 2099-2107; doi:10.1093/hmg/6.12.2099 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EV Semina, RS Reiter, and JC Murray

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19
Hum. Mol. Genet. 1997 6: 2109-2116; doi:10.1093/hmg/6.12.2109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Wang, J Forman-Kay, Y Luo, M Luo, YH Chow, J Plumb, JD Friesen, LC Tsui, HH Heng, JL Woolford Jr, and J Hu

Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome
Hum. Mol. Genet. 1997 6: 2117-2126; doi:10.1093/hmg/6.12.2117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Meguro, K Mitsuya, H Sui, K Shigenami, H Kugoh, M Nakao, and M Oshimura

Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer
Hum. Mol. Genet. 1997 6: 2127-2133; doi:10.1093/hmg/6.12.2127 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MD Kaytor, EN Burright, LA Duvick, HY Zoghbi, and HT Orr

Increased trinucleotide repeat instability with advanced maternal age
Hum. Mol. Genet. 1997 6: 2135-2139; doi:10.1093/hmg/6.12.2135 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Sathasivam, S Baxendale, L Mangiarini, F Bertaux, C Hetherington, I Kanazawa, H Lehrach, and GP Bates

Aberrant processing of the Fugu HD (FrHD) mRNA in mouse cells and in transgenic mice
Hum. Mol. Genet. 1997 6: 2141-2149; doi:10.1093/hmg/6.12.2141 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC Lambert, J Perez-Tur, MJ Dupire, D Galasko, D Mann, P Amouyel, J Hardy, A Delacourte, and MC Chartier-Harlin

Distortion of allelic expression of apolipoprotein E in Alzheimer's disease
Hum. Mol. Genet. 1997 6: 2151-2154; doi:10.1093/hmg/6.12.2151 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AC Jones, CE Daniells, RG Snell, M Tachataki, SA Idziaszczyk, M Krawczak, JR Sampson, and JP Cheadle

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
Hum. Mol. Genet. 1997 6: 2155-2161; doi:10.1093/hmg/6.12.2155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Carrasquillo, J Zlotogora, S Barges, and A Chakravarti

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations
Hum. Mol. Genet. 1997 6: 2163-2172; doi:10.1093/hmg/6.12.2163 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, AH Osborn, HH Dahl, A Middleton, MJ Houseman, C Dode, S Marlin, A Boulila-ElGaied, M Grati, H Ayadi, S BenArab, P Bitoun, G Lina-Granade, J Godet, M Mustapha, J Loiselet, E El-Zir, A Aubois, A Joannard, and C Petit

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
Hum. Mol. Genet. 1997 6: 2173-2177; doi:10.1093/hmg/6.12.2173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Tyson, L Tranebjaerg, S Bellman, C Wren, JF Taylor, J Bathen, B Aslaksen, SJ Sorland, O Lund, S Malcolm, M Pembrey, S Bhattacharya, and M Bitner-Glindzicz

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
Hum. Mol. Genet. 1997 6: 2179-2185; doi:10.1093/hmg/6.12.2179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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