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Titolo:
PRIMERS FOR EXON-SPECIFIC AMPLIFICATION OF THE KRT5 GENE - IDENTIFICATION OF NOVEL AND RECURRENT MUTATIONS IN EPIDERMOLYSIS-BULLOSA SIMPLEXPATIENTS
Autore:
STEPHENS K; EHRLICH P; WEAVER M; LE R; SPENCER A; SYBERT VP;
Indirizzi:
UNIV WASHINGTON,DIV MED GENET,DEPT MED,1959 NE PACIFIC,HSB ROOM I-204,BOX 357720 SEATTLE WA 98195 UNIV WASHINGTON,DEPT PATHOL SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT SEATTLE WA 98195 CHILDRENS HOSP & MED CTR SEATTLE WA 98105
Titolo Testata:
Journal of investigative dermatology
fascicolo: 3, volume: 108, anno: 1997,
pagine: 349 - 353
SICI:
0022-202X(1997)108:3<349:PFEAOT>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN KERATIN-14; DOWLING-MEARA; ICHTHYOSIS BULLOSA; POINT MUTATIONS; WEBER-COCKAYNE; ROD DOMAIN; DISEASE; DIAGNOSIS; SKIN; ABNORMALITIES;
Keywords:
INTERMEDIATE FILAMENTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
K. Stephens et al., "PRIMERS FOR EXON-SPECIFIC AMPLIFICATION OF THE KRT5 GENE - IDENTIFICATION OF NOVEL AND RECURRENT MUTATIONS IN EPIDERMOLYSIS-BULLOSA SIMPLEXPATIENTS", Journal of investigative dermatology, 108(3), 1997, pp. 349-353

Abstract

The KRT5 and KRT14 genes encode the proteins keratin 5 and 14, respectively, which are the primary structural components of the 10-nm intermediate filaments of the mitotic epidermal basal cells, A single mutation in either gene can disrupt the keratin intermediate filament cytoskeleton, resulting in the skin fragility and blistering that is characteristic of the group ofinherited disorders known as epidermolysis bullosa simplex. We have established a mutation detection system that facilitates KRT5 gene analysis from leukocyte genomic DNA, obviating the need for a skin sample or keratinocyte culture for cDNA synthesis, KRT5 intronic regions that flanked each exon were sequenced and sets of facing intronic primers were designed for specific amplification of each of the nine KRT5 exons, Direct sequencing of KRT5-amplified exons identified three novel missense mutations. One mutation recurred in two unrelated patients with sporadic EBS. This glutamate to lysine substitution (E477K), located in the highly conserved KLLEGE motif at the endof the central rod domain, is the third recurrent mutation identifiedin dominant epidermolysis bullosa simplex disease. The corresponding glutamate in keratin 2e was previously reported to be frequently mutated in ichthyosis bullosa of Siemens, suggesting that this highly conserved residue may be a potential mutational hot spot in other type II keratins or nonkeratin intermediate filament proteins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 12:41:44