Human Molecular Genetics

REVIEWS:

A Harris

Towards an ovine model of cystic fibrosis
Hum. Mol. Genet. 1997 6: 2191-2194; doi:10.1093/hmg/6.13.2191 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES:

S Kameya, E Araki, M Katsuki, A Mizota, E Adachi, K Nakahara, I Nonaka, S Sakuragi, S Takeda, and Y Nabeshima

Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina
Hum. Mol. Genet. 1997 6: 2195-2203; doi:10.1093/hmg/6.13.2195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Engelender, AH Sharp, V Colomer, MK Tokito, A Lanahan, P Worley, EL Holzbaur, and CA Ross

Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin
Hum. Mol. Genet. 1997 6: 2205-2212; doi:10.1093/hmg/6.13.2205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CE Kim, PM Gallagher, AB Guttormsen, H Refsum, PM Ueland, L Ose, I Folling, AS Whitehead, MY Tsai, and WD Kruger

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria
Hum. Mol. Genet. 1997 6: 2213-2221; doi:10.1093/hmg/6.13.2213 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Yamada, M Matsuki, Y Morishima, E Ueda, K Tabata, H Yasuno, M Suzuki, and K Yamanishi

Activation of the human transglutaminase 1 promoter in transgenic mice: terminal differentiation-specific expression of the TGM1-lacZ transgene in keratinized stratified squamous epithelia
Hum. Mol. Genet. 1997 6: 2223-2231; doi:10.1093/hmg/6.13.2223 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM Klauck, F Poustka, A Benner, KP Lesch, and A Poustka

Serotonin transporter (5-HTT) gene variants associated with autism?
Hum. Mol. Genet. 1997 6: 2233-2238; doi:10.1093/hmg/6.13.2233 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EA Shoubridge, T Johns, and G Karpati

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
Hum. Mol. Genet. 1997 6: 2239-2242; doi:10.1093/hmg/6.13.2239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Mitsuya, H Sui, M Meguro, H Kugoh, Y Jinno, N Niikawa, and M Oshimura

Paternal expression of WT1 in human fibroblasts and lymphocytes
Hum. Mol. Genet. 1997 6: 2243-2246; doi:10.1093/hmg/6.13.2243 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, F Levi-Acobas, C Cruaud, M Le Merrer, M Mathieu, R Konig, J Vigneron, J Weissenbach, C Petit, and D Weil

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
Hum. Mol. Genet. 1997 6: 2247-2255; doi:10.1093/hmg/6.13.2247 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Cartegni, MR di Barletta, R Barresi, S Squarzoni, P Sabatelli, N Maraldi, M Mora, C Di Blasi, F Cornelio, L Merlini, A Villa, F Cobianchi, and D Toniolo

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy
Hum. Mol. Genet. 1997 6: 2257-2264; doi:10.1093/hmg/6.13.2257 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JR Yates, I van Bakel, T Sepp, SJ Payne, DW Webb, NC Nevin, and AJ Green

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis
Hum. Mol. Genet. 1997 6: 2265-2269; doi:10.1093/hmg/6.13.2265 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Jiang, R Hong, SD Horowitz, X Kong, and R Hirschhorn

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity
Hum. Mol. Genet. 1997 6: 2271-2278; doi:10.1093/hmg/6.13.2271 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TC Hart, DW Bowden, J Bolyard, K Kula, K Hall, and JT Wright

Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21
Hum. Mol. Genet. 1997 6: 2279-2284; doi:10.1093/hmg/6.13.2279 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LV Debelenko, E Brambilla, SK Agarwal, JI Swalwell, MB Kester, IA Lubensky, Z Zhuang, SC Guru, P Manickam, SE Olufemi, SC Chandrasekharappa, JS Crabtree, YS Kim, C Heppner, AL Burns, AM Spiegel, SJ Marx, LA Liotta, FS Collins, WD Travis, and MR Emmert-Buck

Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung
Hum. Mol. Genet. 1997 6: 2285-2290; doi:10.1093/hmg/6.13.2285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DM Baird and NJ Royle

Sequences from higher primates orthologous to the human Xp/Yp telomere junction region reveal gross rearrangements and high levels of divergence
Hum. Mol. Genet. 1997 6: 2291-2299; doi:10.1093/hmg/6.13.2291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Fukagawa and WR Brown

Efficient conditional mutation of the vertebrate CENP-C gene
Hum. Mol. Genet. 1997 6: 2301-2308; doi:10.1093/hmg/6.13.2301 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Vehmanen, LS Friedman, H Eerola, M McClure, B Ward, L Sarantaus, T Kainu, K Syrjakoski, S Pyrhonen, OP Kallioniemi, T Muhonen, M Luce, TS Frank, and H Nevanlinna

Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes
Hum. Mol. Genet. 1997 6: 2309-2315; doi:10.1093/hmg/6.13.2309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Saunier, J Calado, R Heilig, F Silbermann, F Benessy, G Morin, M Konrad, M Broyer, MC Gubler, J Weissenbach, and C Antignac

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
Hum. Mol. Genet. 1997 6: 2317-2323; doi:10.1093/hmg/6.13.2317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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