Human Molecular Genetics

ARTICLES:

J Wang, A Pansky, JM Venuti, D Yaffe, and U Nudel

A sea urchin gene encoding dystrophin-related proteins
Hum. Mol. Genet. 1998 7: 581-588; doi:10.1093/hmg/7.4.581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RG Roberts and M Bobrow

Dystrophins in vertebrates and invertebrates
Hum. Mol. Genet. 1998 7: 589-595; doi:10.1093/hmg/7.4.589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Dao, D Frank, N Qian, D O'Keefe, RJ Vosatka, CP Walsh, and B Tycko

IMPT1, an imprinted gene similar to polyspecific transporter and multi- drug resistance genes
Hum. Mol. Genet. 1998 7: 597-608; doi:10.1093/hmg/7.4.597 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Yu, AD Bailey, and AM Weiner

Metaphase fragility of the human RNU1 and RNU2 loci is induced by actinomycin D through a p53-dependent pathway
Hum. Mol. Genet. 1998 7: 609-617; doi:10.1093/hmg/7.4.609 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Gregersen, VS Winter, MJ Corydon, TJ Corydon, P Rinaldo, A Ribes, G Martinez, MJ Bennett, C Vianey-Saban, A Bhala, DE Hale, W Lehnert, S Kmoch, M Roig, E Riudor, H Eiberg, BS Andresen, P Bross, LA Bolund, and S Kolvraa

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria
Hum. Mol. Genet. 1998 7: 619-627; doi:10.1093/hmg/7.4.619 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EA Lindsay, EL Harvey, PJ Scambler, and A Baldini

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene
Hum. Mol. Genet. 1998 7: 629-635; doi:10.1093/hmg/7.4.629 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Smedley, R Hamoudi, J Clark, W Warren, M Abdul-Rauf, G Somers, D Venter, K Fagan, C Cooper, and J Shipley

The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP
Hum. Mol. Genet. 1998 7: 637-642; doi:10.1093/hmg/7.4.637 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MA Jobling, N Bouzekri, and PG Taylor

Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1)
Hum. Mol. Genet. 1998 7: 643-653; doi:10.1093/hmg/7.4.643 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Bouzekri, PG Taylor, MF Hammer, and MA Jobling

Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization
Hum. Mol. Genet. 1998 7: 655-659; doi:10.1093/hmg/7.4.655 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Bugge, A Collins, MB Petersen, J Fisher, C Brandt, JM Hertz, L Tranebjaerg, C de Lozier-Blanchet, P Nicolaides, K Brondum-Nielsen, N Morton, and M Mikkelsen

Non-disjunction of chromosome 18
Hum. Mol. Genet. 1998 7: 661-669; doi:10.1093/hmg/7.4.661 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NE Faulkner, B Vig, CJ Echeverri, L Wordeman, and RB Vallee

Localization of motor-related proteins and associated complexes to active, but not inactive, centromeres
Hum. Mol. Genet. 1998 7: 671-677; doi:10.1093/hmg/7.4.671 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Cardoso, S Timsit, L Villard, M Khrestchatisky, M Fontes, and L Colleaux

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
Hum. Mol. Genet. 1998 7: 679-684; doi:10.1093/hmg/7.4.679 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SR Twigg, HD Burns, M Oldridge, JK Heath, and AO Wilkie

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3
Hum. Mol. Genet. 1998 7: 685-691; doi:10.1093/hmg/7.4.685 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DE Merry, Y Kobayashi, CK Bailey, AA Taye, and KH Fischbeck

Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy
Hum. Mol. Genet. 1998 7: 693-701; doi:10.1093/hmg/7.4.693 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CA Hodgkinson, A Nakayama, H Li, LB Swenson, K Opdecamp, JH Asher, Jr, H Arnheiter, and T Glaser

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2
Hum. Mol. Genet. 1998 7: 703-708; doi:10.1093/hmg/7.4.703 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Klamt, A Koziell, F Poulat, P Wieacker, P Scambler, P Berta, and M Gessler

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
Hum. Mol. Genet. 1998 7: 709-714; doi:10.1093/hmg/7.4.709 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SK Mahadevaiah, T Odorisio, DJ Elliott, A Rattigan, M Szot, SH Laval, LL Washburn, JR McCarrey, BM Cattanach, R Lovell-Badge, and PS Burgoyne

Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities
Hum. Mol. Genet. 1998 7: 715-727; doi:10.1093/hmg/7.4.715 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JE Mickle, M Macek, Jr, SB Fulmer-Smentek, MM Egan, E Schwiebert, W Guggino, R Moss, and GR Cutting

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
Hum. Mol. Genet. 1998 7: 729-735; doi:10.1093/hmg/7.4.729 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Greenfield, L Carrel, D Pennisi, C Philippe, N Quaderi, P Siggers, K Steiner, PP Tam, AP Monaco, HF Willard, and P Koopman

The UTX gene escapes X inactivation in mice and humans
Hum. Mol. Genet. 1998 7: 737-742; doi:10.1093/hmg/7.4.737 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

XY Wen, DM Bryce, and ML Breitman

Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism
Hum. Mol. Genet. 1998 7: 743-750; doi:10.1093/hmg/7.4.743 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JR Vaughan, MJ Farrer, ZK Wszolek, T Gasser, A Durr, Y Agid, V Bonifati, G DeMichele, G Volpe, S Lincoln, M Breteler, G Meco, A Brice, CD Marsden, J Hardy, and NW Wood

Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)
Hum. Mol. Genet. 1998 7: 751-753; doi:10.1093/hmg/7.4.751 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Le Beau, FV Rassool, ME Neilly, R Espinosa, 3rd, TW Glover, DI Smith, and TW McKeithan

Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction
Hum. Mol. Genet. 1998 7: 755-761; doi:10.1093/hmg/7.4.755 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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