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Titolo:
A NEW KERATIN 2E MUTATION IN ICHTHYOSIS BULLOSA OF SIEMENS
Autore:
JONES DO; WATTS C; MILLS C; SHARPE G; MARKS R; BOWDEN PE;
Indirizzi:
UNIV WALES COLL MED,DEPT DERMATOL,HEATH PK CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL MED,DEPT DERMATOL CARDIFF CF4 4XN S GLAM WALES ROYAL GWENT HOSP NEWPORT NPT 2VB GWENT WALES UNIV LIVERPOOL LIVERPOOL L69 3BX MERSEYSIDE ENGLAND
Titolo Testata:
Journal of investigative dermatology
fascicolo: 3, volume: 108, anno: 1997,
pagine: 354 - 356
SICI:
0022-202X(1997)108:3<354:ANK2MI>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
EPIDERMOLYTIC HYPERKERATOSIS; INTERMEDIATE FILAMENTS; DISEASE SEVERITY; POINT MUTATIONS; ROD DOMAIN; SIMPLEX; GENE; EXPRESSION; MOSAICISM;
Keywords:
INTERMEDIATE FILAMENT; GENODERMATOSIS; EPIDERMOLYSIS; SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
D.O. Jones et al., "A NEW KERATIN 2E MUTATION IN ICHTHYOSIS BULLOSA OF SIEMENS", Journal of investigative dermatology, 108(3), 1997, pp. 354-356

Abstract

Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skincondition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution, Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear aggregates, IBS has been linked to the type LT keratin cluster on chromosome 12q, and K2e mutations have recently been identified in IBS patients. We have studied genomic DNA from two IBS families and in both cases heterozygous point mutations were found in the 2B helical domain. of K2e. One family had an established mutation in codon 493 (E493K), whereas the other had an unreported mutation. in the adjacent codon(E494K). Both mutations were confirmed by allele-specific PCR, These data reinforce the hypothesis that mutations in the TYRKLLEGEE motif of the 2B helix are deleterious to keratin filament network integrity and provide further evidence for the involvement of K2e mutations In IBS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:21:11