Human Molecular Genetics

ARTICLES:

S Rouquier, C Friedman, C Delettre, G van den Engh, A Blancher, B Crouau-Roy, BJ Trask, and D Giorgi

A gene recently inactivated in human defines a new olfactory receptor family in mammals
Hum. Mol. Genet. 1998 7: 1337-1345; doi:10.1093/hmg/7.9.1337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Du, M Duanmu, D Witte, and GA Grabowski

Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage
Hum. Mol. Genet. 1998 7: 1347-1354; doi:10.1093/hmg/7.9.1347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Lunkes and JL Mandel

A cellular model that recapitulates major pathogenic steps of Huntington's disease
Hum. Mol. Genet. 1998 7: 1355-1361; doi:10.1093/hmg/7.9.1355 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ZR Yuan, T Kohsaka, T Ikegaya, T Suzuki, S Okano, J Abe, N Kobayashi, and M Yamada

Mutational analysis of the Jagged 1 gene in Alagille syndrome families
Hum. Mol. Genet. 1998 7: 1363-1369; doi:10.1093/hmg/7.9.1363 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AI Agulnik, A Zharkikh, H Boettger-Tong, T Bourgeron, K McElreavey, and CE Bishop

Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations
Hum. Mol. Genet. 1998 7: 1371-1377; doi:10.1093/hmg/7.9.1371 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Krushkal, M Xiong, R Ferrell, CF Sing, ST Turner, and E Boerwinkle

Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation
Hum. Mol. Genet. 1998 7: 1379-1383; doi:10.1093/hmg/7.9.1379 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PL Howard, GY Dally, MH Wong, A Ho, RG Weleber, DA Pillers, and PN Ray

Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina
Hum. Mol. Genet. 1998 7: 1385-1391; doi:10.1093/hmg/7.9.1385 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Ober, NJ Cox, M Abney, A Di Rienzo, ES Lander, B Changyaleket, H Gidley, B Kurtz, J Lee, M Nance, A Pettersson, J Prescott, A Richardson, E Schlenker, E Summerhill, S Willadsen, and R Parry

Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma
Hum. Mol. Genet. 1998 7: 1393-1398; doi:10.1093/hmg/7.9.1393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Okumoto, R Itoh, N Shimozawa, Y Suzuki, S Tamura, N Kondo, and Y Fujiki

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
Hum. Mol. Genet. 1998 7: 1399-1405; doi:10.1093/hmg/7.9.1399 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Heaney, H Shalev, K Elbedour, R Carmi, JB Staack, VC Sheffield, and DR Beier

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
Hum. Mol. Genet. 1998 7: 1407-1410; doi:10.1093/hmg/7.9.1407 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MT Geraghty, D Vaughn, AJ Nicholson, WW Lin, G Jimenez-Sanchez, C Obie, MP Flynn, D Valle, and CA Hu

Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia
Hum. Mol. Genet. 1998 7: 1411-1415; doi:10.1093/hmg/7.9.1411 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

NN Ninkina, MV Alimova-Kost, JW Paterson, L Delaney, BB Cohen, S Imreh, NV Gnuchev, AM Davies, and VL Buchman

Organization, expression and polymorphism of the human persyn gene
Hum. Mol. Genet. 1998 7: 1417-1424; doi:10.1093/hmg/7.9.1417 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Cooper, DC Rubinsztein, and W Amos

Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues
Hum. Mol. Genet. 1998 7: 1425-1429; doi:10.1093/hmg/7.9.1425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Walder, RA Norman, RL Hanson, P Schrauwen, M Neverova, CP Jenkinson, J Easlick, CH Warden, C Pecqueur, S Raimbault, D Ricquier, MHK Silver, AR Shuldiner, G Solanes, BB Lowell, WK Chung, RL Leibel, R Pratley, and E Ravussin

Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians
Hum. Mol. Genet. 1998 7: 1431-1435; doi:10.1093/hmg/7.9.1431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Sahly, K Gogat, A Kobetz, D Marchant, M Menasche, M Castel, F Revah, J Dufier, M Guerre-Millo, and MM Abitbol

Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation
Hum. Mol. Genet. 1998 7: 1437-1447; doi:10.1093/hmg/7.9.1437 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Doray, R Salomon, J Amiel, A Pelet, R Touraine, M Billaud, T Attie, B Bachy, A Munnich, and S Lyonnet

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]
Hum. Mol. Genet. 1998 7: 1449-1452; doi:10.1093/hmg/7.9.1449 [Abstract] [FREE Full Text] [Request Permissions]  

T Pastinen, M Perola, P Niini, J Terwilliger, V Salomaa, E Vartiainen, L Peltonen, and A Syvanen

Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population
Hum. Mol. Genet. 1998 7: 1453-1462; doi:10.1093/hmg/7.9.1453 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PW Faber, GT Barnes, J Srinidhi, J Chen, JF Gusella, and ME MacDonald

Huntingtin interacts with a family of WW domain proteins
Hum. Mol. Genet. 1998 7: 1463-1474; doi:10.1093/hmg/7.9.1463 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Anderson, HD Burns, P Enriquez-Harris, AOM Wilkie, and JK Heath

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
Hum. Mol. Genet. 1998 7: 1475-1483; doi:10.1093/hmg/7.9.1475 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Koutnikova, V Campuzano, and M Koenig

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
Hum. Mol. Genet. 1998 7: 1485-1489; doi:10.1093/hmg/7.9.1485 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EM McCarthy and JA Phillips, 3rd

Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
Hum. Mol. Genet. 1998 7: 1491-1496; doi:10.1093/hmg/7.9.1491 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Gottlieb, SD Hanes, JA Golden, RJ Oakey, and ML Budarf

Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain
Hum. Mol. Genet. 1998 7: 1497-1505; doi:10.1093/hmg/7.9.1497 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Holmes, MJ Arranz, JF Powell, DA Collier, and S Lovestone

5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease
Hum. Mol. Genet. 1998 7: 1507-1509; doi:10.1093/hmg/7.9.1507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC Lambert, C Berr, F Pasquier, A Delacourte, B Frigard, D Cottel, J Perez-Tur, V Mouroux, M Mohr, D Cecyre, D Galasko, C Lendon, J Poirier, J Hardy, D Mann, P Amouyel, and MC Chartier-Harlin

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease
Hum. Mol. Genet. 1998 7: 1511-1516; doi:10.1093/hmg/7.9.1511 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Marquardt, H Stohr, LA Passmore, F Kramer, A Rivera, and BH Weber

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
Hum. Mol. Genet. 1998 7: 1517-1525; doi:10.1093/hmg/7.9.1517 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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