Human Molecular Genetics

ARTICLES:

TF Tsai, YH Jiang, J Bressler, D Armstrong, and AL Beaudet

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
Hum. Mol. Genet. 1999 8: 1357-1364; doi:10.1093/hmg/8.8.1357 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Stinchi, R Lullmann-Rauch, D Hartmann, R Coenen, T Beccari, A Orlacchio, K von Figura, and P Saftig

Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
Hum. Mol. Genet. 1999 8: 1365-1372; doi:10.1093/hmg/8.8.1365 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ZE Smith and DR Higgs

The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression
Hum. Mol. Genet. 1999 8: 1373-1386; doi:10.1093/hmg/8.8.1373 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Cainarca, S Messali, A Ballabio, and G Meroni

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle
Hum. Mol. Genet. 1999 8: 1387-1396; doi:10.1093/hmg/8.8.1387 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Buchner, E Montini, G Andolfi, N Quaderi, S Cainarca, S Messali, MT Bassi, A Ballabio, G Meroni, and B Franco

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development
Hum. Mol. Genet. 1999 8: 1397-1407; doi:10.1093/hmg/8.8.1397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Ema, S Ikegami, T Hosoya, J Mimura, H Ohtani, K Nakao, K Inokuchi, M Katsuki, and Y Fujii-Kuriyama

Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome
Hum. Mol. Genet. 1999 8: 1409-1415; doi:10.1093/hmg/8.8.1409 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Guiducci, F Ascenzioni, C Auriche, E Piccolella, AM Guerrini, and P Donini

Use of a human minichromosome as a cloning and expression vector for mammalian cells
Hum. Mol. Genet. 1999 8: 1417-1424; doi:10.1093/hmg/8.8.1417 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Fransen, M Verstreken, WI Verhagen, FL Wuyts, PL Huygen, P D'Haese, NG Robertson, CC Morton, WT McGuirt, RJ Smith, F Declau, PH Van de Heyning, and G Van Camp

High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene
Hum. Mol. Genet. 1999 8: 1425-1429; doi:10.1093/hmg/8.8.1425 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Yajima, S Sato, T Kimura, K Yasumoto, S Shibahara, CR Goding, and H Yamamoto

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness
Hum. Mol. Genet. 1999 8: 1431-1441; doi:10.1093/hmg/8.8.1431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Skoog, FM van't Hooft, B Kallin, S Jovinge, S Boquist, J Nilsson, P Eriksson, and A Hamsten

A common functional polymorphism (C-->A substitution at position -863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha
Hum. Mol. Genet. 1999 8: 1443-1449; doi:10.1093/hmg/8.8.1443 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Ratovitski, LB Corson, J Strain, P Wong, DW Cleveland, VC Culotta, and DR Borchelt

Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds
Hum. Mol. Genet. 1999 8: 1451-1460; doi:10.1093/hmg/8.8.1451 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, J Bodurtha, C Crowe, MA Curtis, M Dasouki, T Dunn, H Feit, MT Geraghty, JM Graham, Jr, SV Hodgson, A Hunter, BR Korf, D Manchester, S Miesfeldt, VA Murday, KL Nathanson, M Parisi, B Pober, C Romano, and C Eng

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Hum. Mol. Genet. 1999 8: 1461-1472; doi:10.1093/hmg/8.8.1461 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ID Goodyer, EE Jones, AP Monaco, and MJ Francis

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization
Hum. Mol. Genet. 1999 8: 1473-1478; doi:10.1093/hmg/8.8.1473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DP Smith, J Spicer, A Smith, S Swift, and A Ashworth

The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase
Hum. Mol. Genet. 1999 8: 1479-1485; doi:10.1093/hmg/8.8.1479 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Kimura, E Noguchi, M Shibasaki, T Arinami, Y Yokouchi, K Takeda, K Yamakawa- Kobayashi, A Matsui, and H Hamaguchi

Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population
Hum. Mol. Genet. 1999 8: 1487-1490; doi:10.1093/hmg/8.8.1487 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Alwazzan, E Newman, MG Hamshere, and JD Brook

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
Hum. Mol. Genet. 1999 8: 1491-1497; doi:10.1093/hmg/8.8.1491 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Bianchi, Z Shen, AT Dennis, SG Priori, C Napolitano, E Ronchetti, R Bryskin, PJ Schwartz, and AM Brown

Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome
Hum. Mol. Genet. 1999 8: 1499-1507; doi:10.1093/hmg/8.8.1499 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EG van Grunsven, PA Mooijer, P Aubourg, and RJ Wanders

Enoyl-CoA hydratase deficiency: identification of a new type of D- bifunctional protein deficiency
Hum. Mol. Genet. 1999 8: 1509-1516; doi:10.1093/hmg/8.8.1509 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JN de Villiers, R Hillermann, L Loubser, and MJ Kotze

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
Hum. Mol. Genet. 1999 8: 1517-1522; doi:10.1093/hmg/8.8.1517 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM Houten, GJ Romeijn, J Koster, RG Gray, P Darbyshire, GP Smit, JB de Klerk, M Duran, KM Gibson, RJ Wanders, and HR Waterham

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Hum. Mol. Genet. 1999 8: 1523-1528; doi:10.1093/hmg/8.8.1523 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C De Jonghe, M Cruts, EA Rogaeva, C Tysoe, A Singleton, H Vanderstichele, W Meschino, B Dermaut, I Vanderhoeven, H Backhovens, E Vanmechelen, CM Morris, J Hardy, DC Rubinsztein, PH St George-Hyslop, and C Van Broeckhoven

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
Hum. Mol. Genet. 1999 8: 1529-1540; doi:10.1093/hmg/8.8.1529 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

X Guillonneau, NI Piriev, M Danciger, CA Kozak, AV Cideciyan, SG Jacobson, and DB Farber

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus
Hum. Mol. Genet. 1999 8: 1541-1546; doi:10.1093/hmg/8.8.1541 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Ambrosini and JF Mercer

Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
Hum. Mol. Genet. 1999 8: 1547-1555; doi:10.1093/hmg/8.8.1547 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ML Kimberland, V Divoky, J Prchal, U Schwahn, W Berger, and HH Kazazian, Jr

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells
Hum. Mol. Genet. 1999 8: 1557-1560; doi:10.1093/hmg/8.8.1557 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Schmucker, Y Tang, and M Kressel

Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules
Hum. Mol. Genet. 1999 8: 1561-1570; doi:10.1093/hmg/8.8.1561 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Kirschner, T Rosenberg, R Schultz-Heienbrok, S Lenzner, S Feil, R Roepman, FP Cremers, HH Ropers, and W Berger

RPGR transcription studies in mouse and human tissues reveal a retina- specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
Hum. Mol. Genet. 1999 8: 1571-1578; doi:10.1093/hmg/8.8.1571 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Dixon, J Gazzard, SS Chaudhry, N Sampson, BA Schulte, and KP Steel

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice
Hum. Mol. Genet. 1999 8: 1579-1584; doi:10.1093/hmg/8.8.1579 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Corrigendum
Hum. Mol. Genet. 1999 8: 1585; doi:10.1093/hmg/8.8.1585 [PDF] [Request Permissions]  

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