Human Molecular Genetics

ARTICLES:

I Miguel-Aliaga, E Culetto, DS Walker, HA Baylis, DB Sattelle, and KE Davies

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
Hum. Mol. Genet. 1999 8: 2133-2143; doi:10.1093/hmg/8.12.2133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AG Bijvoet, H Van Hirtum, MA Kroos, EH Van de Kamp, O Schoneveld, P Visser, JP Brakenhoff, M Weggeman, EJ van Corven, AT Van der Ploeg, and AJ Reuser

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
Hum. Mol. Genet. 1999 8: 2145-2153; doi:10.1093/hmg/8.12.2145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AD Simmons, MM Musy, CS Lopes, LY Hwang, YP Yang, and M Lovett

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses
Hum. Mol. Genet. 1999 8: 2155-2164; doi:10.1093/hmg/8.12.2155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Oka, G Tamiya, M Tomizawa, M Ota, Y Katsuyama, S Makino, T Shiina, M Yoshitome, M Iizuka, Y Sasao, K Iwashita, Y Kawakubo, J Sugai, A Ozawa, M Ohkido, M Kimura, S Bahram, and H Inoko

Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene
Hum. Mol. Genet. 1999 8: 2165-2170; doi:10.1093/hmg/8.12.2165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Pece-Barbara, U Cymerman, S Vera, DA Marchuk, and M Letarte

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
Hum. Mol. Genet. 1999 8: 2171-2181; doi:10.1093/hmg/8.12.2171 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Dahlman, E Wallstr#m, R Weissert, M Storch, B Kornek, L Jacobsson, C Linington, H Luthman, H Lassmann, and T Olsson

Linkage analysis of myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in the rat identifies a locus controlling demyelination on chromosome 18
Hum. Mol. Genet. 1999 8: 2183-2190; doi:10.1093/hmg/8.12.2183 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Sj#berg, CA Saavedra-Matiz, DR Rosen, EM Wijsman, K Borg, S H Horowitz, and T Sejersen

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
Hum. Mol. Genet. 1999 8: 2191-2198; doi:10.1093/hmg/8.12.2191 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Carter, S Ulrich, Y Oofuji, DA Williams, and ME Ross

Crooked tail (Cd) models human folate-responsive neural tube defects
Hum. Mol. Genet. 1999 8: 2199-2204; doi:10.1093/hmg/8.12.2199 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DO Robinson and PA Jacobs

The origin of the extra Y chromosome in males with a 47,XYY karyotype
Hum. Mol. Genet. 1999 8: 2205-2209; doi:10.1093/hmg/8.12.2205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RM John, M Hodges, P Little, SC Barton, and MA Surani

A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline
Hum. Mol. Genet. 1999 8: 2211-2219; doi:10.1093/hmg/8.12.2211 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Z Zhou and D Vollrath

A cellular assay distinguishes normal and mutant TIGR/myocilin protein
Hum. Mol. Genet. 1999 8: 2221-2228; doi:10.1093/hmg/8.12.2221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

WL Kimber, P Hsieh, S Hirotsune, L Yuva-Paylor, HF Sutherland, A Chen, P Ruiz- Lozano, SL Hoogstraten-Miller, KR Chien, R Paylor, PJ Scambler, and A Wynshaw- Boris

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse
Hum. Mol. Genet. 1999 8: 2229-2237; doi:10.1093/hmg/8.12.2229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NC Jones, PG Farlie, J Minichiello, and DF Newgreen

Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle
Hum. Mol. Genet. 1999 8: 2239-2245; doi:10.1093/hmg/8.12.2239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Koizumi, J Nozaki, T Ohura, T Kayo, Y Wada, J Nezu, R Ohashi, I Tamai, Y Shoji, G Takada, S Kibira, T Matsuishi, and A Tsuji

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
Hum. Mol. Genet. 1999 8: 2247-2254; doi:10.1093/hmg/8.12.2247 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DM Gordon, Q Shi, A Dancis, and D Pain

Maturation of frataxin within mammalian and yeast mitochondria: one- step processing by matrix processing peptidase
Hum. Mol. Genet. 1999 8: 2255-2262; doi:10.1093/hmg/8.12.2255 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AL Greene, JR Snipe, DA Gordenin, and MA Resnick

Functional analysis of human FEN1 in Saccharomyces cerevisiae and its role in genome stability
Hum. Mol. Genet. 1999 8: 2263-2273; doi:10.1093/hmg/8.12.2263 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Toompuu, V Tiranti, M Zeviani, and HT Jacobs

Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
Hum. Mol. Genet. 1999 8: 2275-2283; doi:10.1093/hmg/8.12.2275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Lopes, S Tardieu, K Silander, I Blair, A Vandenberghe, F Palau, M Ruberg, A Brice, and E LeGuern

Homologous DNA exchanges in humans can be explained by the yeast double- strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP
Hum. Mol. Genet. 1999 8: 2285-2292; doi:10.1093/hmg/8.12.2285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RW Burman, BW Popovich, PB Jacky, and MS Turker

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation- dependent instability in cell hybrids that is independent of DNA methylation
Hum. Mol. Genet. 1999 8: 2293-2302; doi:10.1093/hmg/8.12.2293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Kondo-Iida, K Kobayashi, M Watanabe, J Sasaki, T Kumagai, H Koide, K Saito, M Osawa, Y Nakamura, and T Toda

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
Hum. Mol. Genet. 1999 8: 2303-2309; doi:10.1093/hmg/8.12.2303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Zhou, Y Chen, L Zhou, K Thirunavukkarasu, J Hecht, D Chitayat, BD Gelb, S Pirinen, SA Berry, CR Greenberg, G Karsenty, and B Lee

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
Hum. Mol. Genet. 1999 8: 2311-2316; doi:10.1093/hmg/8.12.2311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Chiurazzi, MG Pomponi, R Pietrobono, CE Bakker, G Neri, and BA Oostra

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene
Hum. Mol. Genet. 1999 8: 2317-2323; doi:10.1093/hmg/8.12.2317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Sahoo, EW Johnson, JW Thomas, PM Kuehl, TL Jones, CG Dokken, JW Touchman, CJ Gallione, SQ Lee-Lin, B Kosofsky, JH Kurth, DN Louis, G Mettler, L Morrison, A Gil-Nagel, SS Rich, JM Zabramski, MS Boguski, ED Green, and DA Marchuk

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
Hum. Mol. Genet. 1999 8: 2325-2333; doi:10.1093/hmg/8.12.2325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 2335; doi:10.1093/hmg/8.12.2335 [PDF] [Request Permissions]  

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