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Titolo:
A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1
Autore:
MERCIER M; WINTER H; LABREZE C; CHAPALAIN V; SURLEVEBAZEILLE JE; TAIEB A; ROGERS MA; SCHWEITZER J;
Indirizzi:
GERMAN CANC RES CTR,RES PROGRAM 2,NEUENHEIMERFELD 280 D-69120 HEIDELBERG GERMANY GERMAN CANC RES CTR,RES PROGRAM 2 D-69120 HEIDELBERG GERMANY HOP PELLEGRIN ENTFANTS,PEDIAT DERMATOL UNIT BORDEAUX FRANCE UNIV BORDEAUX 1,DEPT CELL REGULAT FACTORS,INST BIOL ANIM F-33405 TALENCE FRANCE
Titolo Testata:
Journal of investigative dermatology
fascicolo: 1, volume: 111, anno: 1998,
pagine: 169 - 172
SICI:
0022-202X(1998)111:1<169:AVMPAW>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
ICHTHYOSIS BULLOSA; GENE-CLUSTER; ROD DOMAIN; SIEMENS; 2E; SEQUENCE;
Keywords:
HAIR DISEASE; HUMAN; KERATIN GENE; POINT MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
M. Mercier et al., "A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1", Journal of investigative dermatology, 111(1), 1998, pp. 169-172

Abstract

Monilethrix is a rare human hair disorder with autosomal dominant transmission that can be caused by mutations in hair keratins, Up until now, pathogenic mutations in the type II hair cortex keratins hHb6 and hHb1 were restricted to a highly conserved glutamic acid residue Glu413 (Glu117 of the 2B subdomains) in the EIA-TYRRLLwEG (E) under bar E helix termination motif of the two keratins. The critical glutamic acidresidue was substituted either by a lysine or, less frequently, by anaspartic acid residue. Here we report a novel mutation in a French monilethrix family, which again consists of a lysine substitution of another highly conserved glutamic acid residue, Glu402 (Glu106 of the 2B subdomain), in the (E) under bar LATYRRLLEGEE motif of hHb1. Family members bearing the hHb1 Glu402Lys mutation exhibit a particularly variable disease phenotype, The pedigree comprises two infant members, one with pronounced dystrophic alopecia, follicular keratosis, and clear-cut moniliform hair, and one with no hair loss at all and moniliform hair detectable only by electron microscopy, as well as an adult individual without any clinically or electron microscopically detectable symptoms, but with clear historical proof of the disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 03:11:24