Human Molecular Genetics

REVIEWS:

EE Eichler

Repetitive conundrums of centromere structure and function
Hum. Mol. Genet. 1999 8: 151-155; doi:10.1093/hmg/8.2.151 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ARTICLES:

A Al-Chalabi, PM Andersen, P Nilsson, B Chioza, JL Andersson, C Russ, CE Shaw, JF Powell, and PN Leigh

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
Hum. Mol. Genet. 1999 8: 157-164; doi:10.1093/hmg/8.2.157 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Hanson, A Churchill, J Love, R Axton, T Moore, M Clarke, F Meire, and V van Heyningen

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
Hum. Mol. Genet. 1999 8: 165-172; doi:10.1093/hmg/8.2.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EP Leeflang, S Tavare, P Marjoram, CO Neal, J Srinidhi, H MacFarlane, ME MacDonald, JF Gusella, M de Young, NS Wexler, and N Arnheim

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic [correction of amitotic] mutation mechanism [published erratum appears in Hum Mol Genet 1999 Apr;8(4):717]
Hum. Mol. Genet. 1999 8: 173-183; doi:10.1093/hmg/8.2.173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PL Dahia, RC Aguiar, J Alberta, JB Kum, S Caron, H Sill, DJ Marsh, J Ritz, A Freedman, C Stiles, and C Eng

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies
Hum. Mol. Genet. 1999 8: 185-193; doi:10.1093/hmg/8.2.185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SM Duthie, TB Nesterova, EJ Formstone, AM Keohane, BM Turner, SM Zakian, and N Brockdorff

Xist RNA exhibits a banded localization on the inactive X chromosome and is excluded from autosomal material in cis
Hum. Mol. Genet. 1999 8: 195-204; doi:10.1093/hmg/8.2.195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MS Jackson, M Rocchi, G Thompson, T Hearn, M Crosier, J Guy, D Kirk, L Mulligan, A Ricco, S Piccininni, R Marzella, L Viggiano, and N Archidiacono

Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations
Hum. Mol. Genet. 1999 8: 205-215; doi:10.1093/hmg/8.2.205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AE Barry, EV Howman, MR Cancilla, R Saffery, and KH Choo

Sequence analysis of an 80 kb human neocentromere
Hum. Mol. Genet. 1999 8: 217-227; doi:10.1093/hmg/8.2.217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Hemberger, H Himmelbauer, HP Neumann, KH Plate, G Schwarzkopf, and R Fundele

Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues
Hum. Mol. Genet. 1999 8: 229-236; doi:10.1093/hmg/8.2.229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Kehoe, F Wavrant-De Vrieze, R Crook, WS Wu, P Holmans, I Fenton, G Spurlock, N Norton, H Williams, N Williams, S Lovestone, J Perez-Tur, M Hutton, MC Chartier-Harlin, S Shears, K Roehl, J Booth, W Van Voorst, D Ramic, J Williams, A Goate, J Hardy, and MJ Owen

A full genome scan for late onset Alzheimer's disease
Hum. Mol. Genet. 1999 8: 237-245; doi:10.1093/hmg/8.2.237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Devuyst, PT Christie, PJ Courtoy, R Beauwens, and RV Thakker

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
Hum. Mol. Genet. 1999 8: 247-257; doi:10.1093/hmg/8.2.247 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Bjorses, M Pelto-Huikko, J Kaukonen, J Aaltonen, L Peltonen, and I Ulmanen

Localization of the APECED protein in distinct nuclear structures
Hum. Mol. Genet. 1999 8: 259-266; doi:10.1093/hmg/8.2.259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DH Gutmann, L Sherman, L Seftor, C Haipek, K Hoang Lu, and M Hendrix

Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading
Hum. Mol. Genet. 1999 8: 267-275; doi:10.1093/hmg/8.2.267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Rinderle, HM Christensen, S Schweiger, H Lehrach, and ML Yaspo

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers
Hum. Mol. Genet. 1999 8: 277-290; doi:10.1093/hmg/8.2.277 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Smyth, MA Narang, T Evans, C Heimann, Y Nakamura, G Chenevix-Trench, T Pietsch, C Wicking, and BJ Wainwright

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32
Hum. Mol. Genet. 1999 8: 291-297; doi:10.1093/hmg/8.2.291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Swaroop, QL Wang, W Wu, J Cook, C Coats, S Xu, S Chen, DJ Zack, and PA Sieving

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function
Hum. Mol. Genet. 1999 8: 299-305; doi:10.1093/hmg/8.2.299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Kyo, M Parkes, Y Takei, H Nishimori, P Vyas, J Satsangi, J Simmons, H Nagawa, S Baba, D Jewell, T Muto, GM Lathrop, and Y Nakamura

Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene, MUC3
Hum. Mol. Genet. 1999 8: 307-311; doi:10.1093/hmg/8.2.307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YQ Wu, HA Heilstedt, JA Bedell, KM May, DE Starkey, JD McPherson, SK Shapira, and LG Shaffer

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
Hum. Mol. Genet. 1999 8: 313-321; doi:10.1093/hmg/8.2.313 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Feng, AB Seymour, S Jiang, A To, AA Peden, EK Novak, L Zhen, ME Rusiniak, EM Eicher, MS Robinson, MB Gorin, and RT Swank

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky- Pudlak syndrome and night blindness
Hum. Mol. Genet. 1999 8: 323-330; doi:10.1093/hmg/8.2.323 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Yamakawa-Kobayashi, H Yanagi, H Fukayama, C Hirano, Y Shimakura, N Yamamoto, T Arinami, S Tsuchiya, and H Hamaguchi

Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey
Hum. Mol. Genet. 1999 8: 331-336; doi:10.1093/hmg/8.2.331 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Farber, B Dittrich, K Buiting, and B Horsthemke

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
Hum. Mol. Genet. 1999 8: 337-343; doi:10.1093/hmg/8.2.337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JM Serratosa, P Gomez-Garre, ME Gallardo, B Anta, DB de Bernabe, D Lindhout, PB Augustijn, CA Tassinari, RM Malafosse, M Topcu, D Grid, C Dravet, SF Berkovic, and SR de Cordoba

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
Hum. Mol. Genet. 1999 8: 345-352; doi:10.1093/hmg/8.2.345 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Manilal, CA Sewry, A Pereboev, N Man, P Gobbi, S Hawkes, DR Love, and GE Morris

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
Hum. Mol. Genet. 1999 8: 353-359; doi:10.1093/hmg/8.2.353 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YJ de Kok, SJ Bom, TM Brunt, MH Kemperman, E van Beusekom, SD van der Velde- Visser, NG Robertson, CC Morton, PL Huygen, WI Verhagen, HG Brunner, CW Cremers, and FP Cremers

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
Hum. Mol. Genet. 1999 8: 361-366; doi:10.1093/hmg/8.2.361 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MM Ameyaw, ES Collie-Duguid, RH Powrie, D Ofori-Adjei, and HL McLeod

Thiopurine methyltransferase alleles in British and Ghanaian populations
Hum. Mol. Genet. 1999 8: 367-370; doi:10.1093/hmg/8.2.367 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YY Hon, MY Fessing, CH Pui, MV Relling, EY Krynetski, and WE Evans

Polymorphism of the thiopurine S-methyltransferase gene in African- Americans
Hum. Mol. Genet. 1999 8: 371-376; doi:10.1093/hmg/8.2.371 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AM Keohane, AL Barlow, J Waters, D Bourn, and BM Turner

H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes
Hum. Mol. Genet. 1999 8: 377-383; doi:10.1093/hmg/8.2.377 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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