Human Molecular Genetics

REVIEWS:

JAM Graves, MJ Wakefield, and R Toder

The origin and evolution of the pseudoautosomal regions of human sex chromosomes
Hum. Mol. Genet. 1998 7: 1991-1996; doi:10.1093/hmg/7.13.1991 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES:

A Bulfone, C Gattuso, A Marchitiello, C Pardini, E Boncinelli, G Borsani, S Banfi, and A Ballabio

The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function
Hum. Mol. Genet. 1998 7: 1997-2006; doi:10.1093/hmg/7.13.1997 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

BJ Trask, H Massa, V Brand-Arpon, K Chan, C Friedman, OT Nguyen, E Eichler, G van den Engh, S Rouquier, H Shizuya, and D Giorgi

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome
Hum. Mol. Genet. 1998 7: 2007-2020; doi:10.1093/hmg/7.13.2007 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TM Strom, K Hortnagel, S Hofmann, F Gekeler, C Scharfe, W Rabl, KD Gerbitz, and T Meitinger

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
Hum. Mol. Genet. 1998 7: 2021-2028; doi:10.1093/hmg/7.13.2021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DT Pilz, N Matsumoto, S Minnerath, P Mills, JG Gleeson, KM Allen, CA Walsh, AJ Barkovich, WB Dobyns, DH Ledbetter, and ME Ross

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
Hum. Mol. Genet. 1998 7: 2029-2037; doi:10.1093/hmg/7.13.2029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Lonnqvist, D Reinhardt, L Sakai, and L Peltonen

Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations
Hum. Mol. Genet. 1998 7: 2039-2044; doi:10.1093/hmg/7.13.2039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Al-Chalabi, PM Andersen, B Chioza, C Shaw, PC Sham, W Robberecht, G Matthijs, W Camu, SL Marklund, L Forsgren, G Rouleau, NG Laing, PV Hurse, T Siddique, PN Leigh, and JF Powell

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor
Hum. Mol. Genet. 1998 7: 2045-2050; doi:10.1093/hmg/7.13.2045 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Kluwe and VF Mautner

Mosaicism in sporadic neurofibromatosis 2 patients
Hum. Mol. Genet. 1998 7: 2051-2055; doi:10.1093/hmg/7.13.2051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SP Wang, JD Marth, LL Oligny, M Vachon, MF Robert, L Ashmarina, and GA Mitchell

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice
Hum. Mol. Genet. 1998 7: 2057-2062; doi:10.1093/hmg/7.13.2057 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Petris, J Camakaris, M Greenough, S LaFontaine, and JFB Mercer

A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network
Hum. Mol. Genet. 1998 7: 2063-2071; doi:10.1093/hmg/7.13.2063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RE Ferrell, KL Levinson, JH Esman, MA Kimak, EC Lawrence, MM Barmada, and DN Finegold

Hereditary lymphedema: evidence for linkage and genetic heterogeneity
Hum. Mol. Genet. 1998 7: 2073-2078; doi:10.1093/hmg/7.13.2073 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KR Peterson, PA Navas, Q Li, and G Stamatoyannopoulos

LCR-dependent gene expression in beta-globin YAC transgenics: detailed structural studies validate functional analysis even in the presence of fragmented YACs
Hum. Mol. Genet. 1998 7: 2079-2088; doi:10.1093/hmg/7.13.2079 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Imamura, S Tamura, N Shimozawa, Y Suzuki, Z Zhang, T Tsukamoto, T Orii, N Kondo, T Osumi, and Y Fujiki

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders
Hum. Mol. Genet. 1998 7: 2089-2094; doi:10.1093/hmg/7.13.2089 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Zucman-Rossi, P Legoix, H Der Sarkissian, G Cheret, F Sor, A Bernardi, L Cazes, S Giraud, E Ollagnon, G Lenoir, and G Thomas

NF2 gene in neurofibromatosis type 2 patients
Hum. Mol. Genet. 1998 7: 2095-2101; doi:10.1093/hmg/7.13.2095 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Murakami, H Ohto, U Ikeda, K Shimada, T Momoi, and K Kawakami

Promoter of mDMAHP/Six5: differential utilization of multiple transcription initiation sites and positive/negative regulatory elements
Hum. Mol. Genet. 1998 7: 2103-2112; doi:10.1093/hmg/7.13.2103 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Andreassen and B Olaisen

De novo mutations and allelic diversity at minisatellite locus D7S22 investigated by allele-specific four-state MVR-PCR analysis
Hum. Mol. Genet. 1998 7: 2113-2120; doi:10.1093/hmg/7.13.2113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EW Khandjian, B Bardoni, F Corbin, A Sittler, S Giroux, D Heitz, S Tremblay, C Pinset, D Montarras, F Rousseau, and J Mandel

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis
Hum. Mol. Genet. 1998 7: 2121-2128; doi:10.1093/hmg/7.13.2121 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Taboulet, M Frenkian, JL Frendo, N Feingold, A Jullienne, and MC de Vernejoul

Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women
Hum. Mol. Genet. 1998 7: 2129-2133; doi:10.1093/hmg/7.13.2129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Bonaldo, P Braghetta, M Zanetti, S Piccolo, D Volpin, and GM Bressan

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy
Hum. Mol. Genet. 1998 7: 2135-2140; doi:10.1093/hmg/7.13.2135 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A El Meziane, SK Lehtinen, IJ Holt, and HT Jacobs

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation
Hum. Mol. Genet. 1998 7: 2141-2147; doi:10.1093/hmg/7.13.2141 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Talbot, I Miguel-Aliaga, P Mohaghegh, CP Ponting, and KE Davies

Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex
Hum. Mol. Genet. 1998 7: 2149-2156; doi:10.1093/hmg/7.13.2149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DB Stairs, H Perry Gardner, SI Ha, NG Copeland, DJ Gilbert, NA Jenkins, and LA Chodosh

Cloning and characterization of Krct, a member of a novel subfamily of serine/threonine kinases
Hum. Mol. Genet. 1998 7: 2157-2166; doi:10.1093/hmg/7.13.2157 [Abstract] [FREE Full Text] [Request Permissions]  

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