Human Molecular Genetics

ARTICLES:

M Bayes, AJ Hartung, S Ezer, J Pispa, I Thesleff, AK Srivastava, and J Kere

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
Hum. Mol. Genet. 1998 7: 1661-1669; doi:10.1093/hmg/7.11.1661 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Cichon, M Anker, IR Vogt, H Rohleder, M Putzstuck, A Hillmer, SA Farooq, KS Al- Dhafri, M Ahmad, S Haque, M Rietschel, P Propping, R Kruse, and MM Nothen

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia [published erratum appears in Hum Mol Genet 1998 Nov;7(12):1987-8]
Hum. Mol. Genet. 1998 7: 1671-1679; doi:10.1093/hmg/7.11.1671 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Ding, MC Beckers, S Plaisance, P Marynen, D Collen, and A Belayew

Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements
Hum. Mol. Genet. 1998 7: 1681-1694; doi:10.1093/hmg/7.11.1681 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MP Nicolino, JP Puech, EJ Kremer, AJ Reuser, C Mbebi, M Verdiere-Sahuque, A Kahn, and L Poenaru

Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
Hum. Mol. Genet. 1998 7: 1695-1702; doi:10.1093/hmg/7.11.1695 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Laporte, F Blondeau, A Buj-Bello, D Tentler, C Kretz, N Dahl, and JL Mandel

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human
Hum. Mol. Genet. 1998 7: 1703-1712; doi:10.1093/hmg/7.11.1703 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Mazeyrat, N Saut, CA Sargent, S Grimmond, G Longepied, IE Ehrmann, PS Ellis, A Greenfield, NA Affara, and MJ Mitchell

The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region
Hum. Mol. Genet. 1998 7: 1713-1724; doi:10.1093/hmg/7.11.1713 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

IE Ehrmann, PS Ellis, S Mazeyrat, S Duthie, N Brockdorff, MG Mattei, MA Gavin, NA Affara, GM Brown, E Simpson, MJ Mitchell, and DM Scott

Characterization of genes encoding translation initiation factor eIF- 2gamma in mouse and human: sex chromosome localization, escape from X- inactivation and evolution
Hum. Mol. Genet. 1998 7: 1725-1737; doi:10.1093/hmg/7.11.1725 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Larriba, L Bassas, J Gimenez, MD Ramos, A Segura, V Nunes, X Estivill, and T Casals

Testicular CFTR splice variants in patients with congenital absence of the vas deferens
Hum. Mol. Genet. 1998 7: 1739-1743; doi:10.1093/hmg/7.11.1739 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Keavney, CA McKenzie, JM Connell, C Julier, PJ Ratcliffe, E Sobel, M Lathrop, and M Farrall

Measured haplotype analysis of the angiotensin-I converting enzyme gene
Hum. Mol. Genet. 1998 7: 1745-1751; doi:10.1093/hmg/7.11.1745 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Kubisch, T Schmidt-Rose, B Fontaine, AH Bretag, and TJ Jentsch

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence
Hum. Mol. Genet. 1998 7: 1753-1760; doi:10.1093/hmg/7.11.1753 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Vankeerberghen, L Wei, M Jaspers, JJ Cassiman, B Nilius, and H Cuppens

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator
Hum. Mol. Genet. 1998 7: 1761-1769; doi:10.1093/hmg/7.11.1761 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Ried, E Rao, K Schiebel, and GA Rappold

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL
Hum. Mol. Genet. 1998 7: 1771-1778; doi:10.1093/hmg/7.11.1771 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KF Benson, M Horwitz, J Wolff, K Friend, E Thompson, S White, RI Richards, WH Raskind, and TD Bird

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients
Hum. Mol. Genet. 1998 7: 1779-1786; doi:10.1093/hmg/7.11.1779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Rottier, CN Hahn, LW Mann, M del Pilar Martin, RJ Smeyne, K Suzuki, and A d'Azzo

Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA
Hum. Mol. Genet. 1998 7: 1787-1794; doi:10.1093/hmg/7.11.1787 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KL Marsh, J Dixon, and MJ Dixon

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle
Hum. Mol. Genet. 1998 7: 1795-1800; doi:10.1093/hmg/7.11.1795 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Barrientos and CT Moraes

Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear- mitochondrial communication
Hum. Mol. Genet. 1998 7: 1801-1808; doi:10.1093/hmg/7.11.1801 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Stevanin, P Giunti, GDS Belal, A Durr, M Ruberg, N Wood, and A Brice

De novo expansion of intermediate alleles in spinocerebellar ataxia 7
Hum. Mol. Genet. 1998 7: 1809-1813; doi:10.1093/hmg/7.11.1809 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AG Bijvoet, MA Kroos, FR Pieper, M Van der Vliet, HA De Boer, AT Van der Ploeg, MP Verbeet, and AJ Reuser

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice
Hum. Mol. Genet. 1998 7: 1815-1824; doi:10.1093/hmg/7.11.1815 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Dumanchin, A Camuzat, D Campion, P Verpillat, D Hannequin, B Dubois, P Saugier-Veber, C Martin, C Penet, F Charbonnier, Y Agid, T Frebourg, and A Brice

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism
Hum. Mol. Genet. 1998 7: 1825-1829; doi:10.1093/hmg/7.11.1825 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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