Human Molecular Genetics

ARTICLES:

R Sarig, V Mezger-Lallemand, I Gitelman, C Davis, O Fuchs, D Yaffe, and U Nudel

Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development
Hum. Mol. Genet. 1999 8: 1-10; doi:10.1093/hmg/8.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Borsani, A DeGrandi, A Ballabio, A Bulfone, L Bernard, S Banfi, C Gattuso, M Mariani, M Dixon, D Donnai, K Metcalfe, R Winter, M Robertson, R Axton, A Brown, V van Heyningen, and I Hanson

EYA4, a novel vertebrate gene related to Drosophila eyes absent
Hum. Mol. Genet. 1999 8: 11-23; doi:10.1093/hmg/8.1.11 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AS Hackam, R Singaraja, T Zhang, L Gan, and MR Hayden

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease
Hum. Mol. Genet. 1999 8: 25-33; doi:10.1093/hmg/8.1.25 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Li, L Chen, T Iwata, M Kitagawa, XY Fu, and CX Deng

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
Hum. Mol. Genet. 1999 8: 35-44; doi:10.1093/hmg/8.1.35 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Ylikorkala, E Avizienyte, IP Tomlinson, M Tiainen, S Roth, A Loukola, A Hemminki, M Johansson, P Sistonen, D Markie, K Neale, R Phillips, P Zauber, T Twama, J Sampson, H Jarvinen, TP Makela, and LA Aaltonen

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer
Hum. Mol. Genet. 1999 8: 45-51; doi:10.1093/hmg/8.1.45 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

X Lu, NA Timchenko, and LT Timchenko

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
Hum. Mol. Genet. 1999 8: 53-60; doi:10.1093/hmg/8.1.53 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Esposito, F Gianfrancesco, A Ciccodicola, L Montanini, S Mumm, M D'Urso, and A Forabosco

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
Hum. Mol. Genet. 1999 8: 61-67; doi:10.1093/hmg/8.1.61 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

N Sandoval, M Platzer, A Rosenthal, T Dork, R Bendix, B Skawran, M Stuhrmann, RD Wegner, K Sperling, S Banin, Y Shiloh, A Baumer, U Bernthaler, H Sennefelder, M Brohm, BH Weber, and D Schindler

Characterization of ATM gene mutations in 66 ataxia telangiectasia families
Hum. Mol. Genet. 1999 8: 69-79; doi:10.1093/hmg/8.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Farrer, K Gwinn-Hardy, M Muenter, FW DeVrieze, R Crook, J Perez-Tur, S Lincoln, D Maraganore, C Adler, S Newman, K MacElwee, P McCarthy, C Miller, C Waters, and J Hardy

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
Hum. Mol. Genet. 1999 8: 81-85; doi:10.1093/hmg/8.1.81 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SG Katz, SS Schneider, A Bartuski, BJ Trask, H Massa, J Overhauser, M Lalande, PM Lansdorp, and GA Silverman

An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA
Hum. Mol. Genet. 1999 8: 87-92; doi:10.1093/hmg/8.1.87 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DJ Grainger, K Heathcote, M Chiano, H Snieder, PR Kemp, JC Metcalfe, ND Carter, and TD Spector

Genetic control of the circulating concentration of transforming growth factor type beta1
Hum. Mol. Genet. 1999 8: 93-97; doi:10.1093/hmg/8.1.93 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Sato, M Oyake, K Nakamura, K Nakao, Y Fukusima, O Onodera, S Igarashi, H Takano, K Kikugawa, Y Ishida, T Shimohata, R Koide, T Ikeuchi, H Tanaka, N Futamura, R Matsumura, T Takayanagi, F Tanaka, G Sobue, O Komure, M Takahashi, A Sano, Y Ichikawa, J Goto, and I Kanazawa

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
Hum. Mol. Genet. 1999 8: 99-106; doi:10.1093/hmg/8.1.99 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Campeau, L Dupuis, D Leclerc, and RA Gravel

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene
Hum. Mol. Genet. 1999 8: 107-113; doi:10.1093/hmg/8.1.107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

VC Wheeler, W Auerbach, JK White, J Srinidhi, A Auerbach, A Ryan, MP Duyao, V Vrbanac, M Weaver, JF Gusella, AL Joyner, and ME MacDonald

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
Hum. Mol. Genet. 1999 8: 115-122; doi:10.1093/hmg/8.1.115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Delot, LM King, MD Briggs, WR Wilcox, and DH Cohn

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
Hum. Mol. Genet. 1999 8: 123-128; doi:10.1093/hmg/8.1.123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Fang, E Lev-Lehman, TF Tsai, T Matsuura, CS Benton, JS Sutcliffe, SL Christian, T Kubota, DJ Halley, H Meijers-Heijboer, S Langlois, JM Graham, Jr, J Beuten, PJ Willems, DH Ledbetter, and AL Beaudet

The spectrum of mutations in UBE3A causing Angelman syndrome
Hum. Mol. Genet. 1999 8: 129-135; doi:10.1093/hmg/8.1.129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YS Cong, J Wen, and S Bacchetti

The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter
Hum. Mol. Genet. 1999 8: 137-142; doi:10.1093/hmg/8.1.137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DK Armstrong, KE McKenna, PE Purkis, KJ Green, RA Eady, IM Leigh, and AE Hughes

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
Hum. Mol. Genet. 1999 8: 143-148; doi:10.1093/hmg/8.1.143 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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