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Titolo:
ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE
Autore:
KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM;
Indirizzi:
UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,GEERT GROOTEPLEIN 20,POB 9101 6500 HB NIJMEGEN NETHERLANDS UNIV NIJMEGEN HOSP,DEPT DERMATOL 6500 HB NIJMEGEN NETHERLANDS UNIV DUNDEE,INST MED SCI,DEPT ANAT & PHYSIOL,CANC RES CAMPAIGN LABS,CELL STRUCT RES GRP DUNDEE DD1 4HN SCOTLAND
Titolo Testata:
Journal of investigative dermatology
fascicolo: 3, volume: 103, anno: 1994,
pagine: 286 - 289
SICI:
0022-202X(1994)103:3<286:IBOSIC>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
EPIDERMOLYTIC HYPERKERATOSIS; INTERMEDIATE FILAMENTS; ROD DOMAIN; DISEASE; SIMPLEX; DIFFERENTIATION; ERYTHRODERMA;
Keywords:
EPIDERMOLYTIC; HYPERKERATOSIS; ALLELISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
H. Kremer et al., "ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE", Journal of investigative dermatology, 103(3), 1994, pp. 286-289

Abstract

Ichthyosis bullosa of Siemens is a blistering disorder with autosomaldominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe. Keratins K1 and K10 have beenimplicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in ichthyosis bullosa of Siemens. Mutations in the highly conservedregions of K1, a member of the type II gene cluster, were excluded. The gene coding for keratin 2e is also located in the type II gene cluster and the expression of the gene coincides with the occurrence of epidermolytic hyperkeratosis. Sequence analysis revealed the presence ofmutations in the K2e gene in patients with ichthyosis bullosa of Siemens. Three different mutations were detected, one in the 1A domain andtwo in the 2B domain of the rod. Furthermore, histologic and ultrastructural examination of skin biopsies indicated that ichthyosis exfoliativa is identical to ichthyosis bullosa of Siemens. This was confirmedby the results of the molecular analysis. In the family diagnosed as ichthyosis exfoliativa, a mutation was detected that was identical to the mutation found in one of the families with ichthyosis bullosa of Siemens.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 17:45:28