Human Molecular Genetics

ARTICLES:

N Braverman, G Dodt, SJ Gould, and D Valle

An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes
Hum. Mol. Genet. 1998 7: 1195-1205; doi:10.1093/hmg/7.8.1195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Lemmers, SM van der Maarel, JC van Deutekom, MJ van der Wielen, G Deidda, HG Dauwerse, J Hewitt, M Hofker, E Bakker, GW Padberg, and RR Frants

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
Hum. Mol. Genet. 1998 7: 1207-1214; doi:10.1093/hmg/7.8.1207 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JS Harvey, WF Carey, and CP Morris

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype
Hum. Mol. Genet. 1998 7: 1215-1219; doi:10.1093/hmg/7.8.1215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AR Savage, MB Petersen, D Pettay, L Taft, K Allran, SB Freeman, G Karadima, D Avramopoulos, C Torfs, M Mikkelsen, TJ Hassold, and SL Sherman

Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans
Hum. Mol. Genet. 1998 7: 1221-1227; doi:10.1093/hmg/7.8.1221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JL Haines, HA Terwedow, K Burgess, MA Pericak-Vance, JB Rimmler, ER Martin, JR Oksenberg, R Lincoln, DY Zhang, DR Banatao, N Gatto, DE Goodkin, and SL Hauser

Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group
Hum. Mol. Genet. 1998 7: 1229-1234; doi:10.1093/hmg/7.8.1229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MG Marrosu, MR Murru, G Costa, R Murru, F Muntoni, and F Cucca

DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population
Hum. Mol. Genet. 1998 7: 1235-1237; doi:10.1093/hmg/7.8.1235 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TJ Watnick, MA Gandolph, H Weber, HP Neumann, and GG Germino

Gene conversion is a likely cause of mutation in PKD1
Hum. Mol. Genet. 1998 7: 1239-1243; doi:10.1093/hmg/7.8.1239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MJ Francis, EE Jones, ER Levy, S Ponnambalam, J Chelly, and AP Monaco

A Golgi localization signal identified in the Menkes recombinant protein
Hum. Mol. Genet. 1998 7: 1245-1252; doi:10.1093/hmg/7.8.1245 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RJ Ritchie, MG Mattei, and M Lalande

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
Hum. Mol. Genet. 1998 7: 1253-1260; doi:10.1093/hmg/7.8.1253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Klose, MR Ahmadian, M Schuelke, K Scheffzek, S Hoffmeyer, A Gewies, F Schmitz, D Kaufmann, H Peters, A Wittinghofer, and P Nurnberg

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1
Hum. Mol. Genet. 1998 7: 1261-1268; doi:10.1093/hmg/7.8.1261 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CL Lorson and EJ Androphy

The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]
Hum. Mol. Genet. 1998 7: 1269-1275; doi:10.1093/hmg/7.8.1269 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM Herrmann, S Ricard, V Nicaud, C Mallet, A Evans, JB Ruidavets, D Arveiler, G Luc, and F Cambien

The P-selectin gene is highly polymorphic: reduced frequency of the Pro715 allele carriers in patients with myocardial infarction
Hum. Mol. Genet. 1998 7: 1277-1284; doi:10.1093/hmg/7.8.1277 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AS Lia, H Seznec, H Hofmann-Radvanyi, F Radvanyi, C Duros, C Saquet, M Blanche, C Junien, and G Gourdon

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
Hum. Mol. Genet. 1998 7: 1285-1291; doi:10.1093/hmg/7.8.1285 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S La Fontaine, SD Firth, PJ Lockhart, H Brooks, RG Parton, J Camakaris, and JF Mercer

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1)
Hum. Mol. Genet. 1998 7: 1293-1300; doi:10.1093/hmg/7.8.1293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Nechiporuk, DP Huynh, K Figueroa, S Sahba, A Nechiporuk, and SM Pulst

The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression
Hum. Mol. Genet. 1998 7: 1301-1309; doi:10.1093/hmg/7.8.1301 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Bienvenu, V des Portes, A Saint Martin, N McDonell, P Billuart, A Carrie, MC Vinet, P Couvert, D Toniolo, HH Ropers, C Moraine, H van Bokhoven, JP Fryns, A Kahn, C Beldjord, and J Chelly

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
Hum. Mol. Genet. 1998 7: 1311-1315; doi:10.1093/hmg/7.8.1311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Bernot, C da Silva, JL Petit, C Cruaud, C Caloustian, V Castet, M Ahmed-Arab, C Dross, M Dupont, D Cattan, N Smaoui, C Dode, C Pecheux, B Nedelec, J Medaxian, M Rozenbaum, I Rosner, M Delpech, G Grateau, J Demaille, J Weissenbach, and I Touitou

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
Hum. Mol. Genet. 1998 7: 1317-1325; doi:10.1093/hmg/7.8.1317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Sossey-Alaoui, AJ Hartung, R Guerrini, DK Manchester, A Posar, A Puche-Mira, E Andermann, WB Dobyns, and AK Srivastava

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects
Hum. Mol. Genet. 1998 7: 1327-1332; doi:10.1093/hmg/7.8.1327 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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