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Titolo:
SEVERE PALMOPLANTAR HYPERKERATOSIS IN DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX CAUSED BY A MUTATION IN THE KERATIN-14 GENE (KRT14)
Autore:
SHEMANKO CS; MELLERIO JE; TIDMAN MJ; LANE EB; EADY RAJ;
Indirizzi:
INST EXPT CANC RES,KLIN TUMORBIOL,BREISACHER STR 117 D-79106 FREIBURGGERMANY UNIV DUNDEE,DEPT ANAT & PHYSIOL,CRC LABS DUNDEE DD1 4HN SCOTLAND UNIV EDINBURGH,ROYAL INFIRM EDINBURGH,DEPT DERMATOL EDINBURGH EH3 9YWMIDLOTHIAN SCOTLAND UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,ST THOMAS HOSP LONDON SE17EH ENGLAND
Titolo Testata:
Journal of investigative dermatology
fascicolo: 5, volume: 111, anno: 1998,
pagine: 893 - 895
SICI:
0022-202X(1998)111:5<893:SPHIDE>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
KNOCKOUT; SEQUENCE; DISEASE; DOMAIN;
Keywords:
BLISTERING SKIN DISEASES; KERATIN INTERMEDIATE FILAMENTS; HELIX INITIATION MOTIF;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
C.S. Shemanko et al., "SEVERE PALMOPLANTAR HYPERKERATOSIS IN DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX CAUSED BY A MUTATION IN THE KERATIN-14 GENE (KRT14)", Journal of investigative dermatology, 111(5), 1998, pp. 893-895

Abstract

Mutant keratins 5 or 14 are implicated in the etiology of epidermolysis bullosa simplex (EBS), The catalog of mutations has established certain patterns of mutation clusters from which it may be possible, along with associated biochemical data, to predict phenotypic severity. Itis becoming apparent that some of these assumptions may now require modification, We report a mutation in the gene encoding keratin 14 (KRT14) that changes the predicted amino acid at position 119, at the start of the helix initiation motif, from methionine to threonine (K14 M119T) in a patient with an EBS Dowling-Meara phenotype with severe palmo-plantar hyperkeratosis, This demonstrates that the three major types of EBS can arise front missense mutations in the same codon, The findings suggest that the specific nature of the missense mutation, in the context of the protein sequence, can contribute far more to the clinical severity than previously thought. The different EBS subtypes shouldbe viewed as gradations of clinical severity rather than distinct genetic diseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 14:04:25