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Titolo:
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus
Autore:
Terrinoni, A; Puddu, P; Didona, B; De Laurenzi, V; Candi, E; Smith, FJD; McLean, WHI; Melino, G;
Indirizzi:
Univ Roma Tor Vergata, Dept Expt Med F153D26, IDI IRCCS, Biochem Lab, I-00133 Rome, Italy Univ Roma Tor Vergata Rome Italy I-00133 iochem Lab, I-00133 Rome, Italy Div IDI IRCCS 5A, Rome, Italy Div IDI IRCCS 5A Rome ItalyDiv IDI IRCCS 5A, Rome, Italy Univ Dundee, Dept Mol & Cellular Pathol, Human Genet Unit, Epithelial Genet Grp, Dundee DD1 4HN, Scotland Univ Dundee Dundee Scotland DD1 4HN Genet Grp, Dundee DD1 4HN, Scotland
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 6, volume: 114, anno: 2000,
pagine: 1136 - 1140
SICI:
0022-202X(200006)114:6<1136:AMITVD>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORNIFIED CELL-ENVELOPE; KERATIN INTERMEDIATE FILAMENTS; PACHYONYCHIA-CONGENITA; II KERATINS; EPIDERMOLYTIC HYPERKERATOSIS; VOHWINKELS-SYNDROME; GENE-MUTATIONS; GLYCINE LOOPS; COILED-COIL; 2 FAMILIES;
Keywords:
intermediate filaments; keratin 16; keratin; mutation; palmoplantar keratoderma;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Melino, G Univ Roma Tor Vergata, Dept Expt Med F153D26, IDI IRCCS, BiochemLab, Via Tor Vergata 135, I-00133 Rome, Italy Univ Roma Tor Vergata Via Tor Vergata 135 Rome Italy I-00133 ly
Citazione:
A. Terrinoni et al., "A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus", J INVES DER, 114(6), 2000, pp. 1136-1140

Abstract

Palmoplantar keratodermas are a group of heterogeneous diseases characterized by thickening, and marked hyperkeratosis, of the epidermis of the palmsand soles. Palmoplantar keratodermas can be divided into four major classes: diffuse, focal, punctate, and palmoplantar ectodermal dysplasias. All forms are genetic diseases inherited as autosomal dominant disorders. We studied a patient exhibiting a localized thickening of the skin in parts of theright palm and the right sole, following Blaschko's lines, that does not fit into any classes already described. We sequenced the keratin 16 cDNA derived from skin biopsy material from affected and non affected palms. The keratin 16 cDNA sequence from lesional epidermis showed a 12 base pair deletion (309-320del), which deletes codons 104-107. The mutation is predicted todelete four amino acids, GGFA, from the V1 domain of the keratin 16 polypeptide, close to the 1A domain. Full-length keratin 16 cDNA sequence derivedfrom the unaffected palm was completely normal, consistent with a postzygotic mutation as is suggested by the mosaicism observed. We defined this newclinical entity, ''unilateral palmoplantar verrucous nevus'', rather than localized or focal epidermolytic palmoplantar keratodermas, as the lesions are present only on one side of the body and follow Blaschko's lines. This study is a report of a mosaic mutation in keratin 16 and also the association of a mutation in the V1 domain of a type I keratin associated with a human disease.

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Documento generato il 25/09/20 alle ore 00:25:28