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Titolo:
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens
Autore:
Arin, MJ; Longley, MA; Epstein, EH; Scott, G; Goldsmith, LA; Rothnagel, JA; Roop, DR;
Indirizzi:
Baylor Coll Med, Dept Cell Biol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 ept Cell Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 Dept Dermatol, Houston, TX 77030 USA Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Univ Rochester, Ctr Med, Dept Dermatol, Rochester, MN USA Univ Rochester Rochester MN USA tr Med, Dept Dermatol, Rochester, MN USA Univ Rochester, Ctr Med, Dept Pathol, Rochester, MN USA Univ Rochester Rochester MN USA Ctr Med, Dept Pathol, Rochester, MN USA
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 3, volume: 112, anno: 1999,
pagine: 380 - 382
SICI:
0022-202X(199903)112:3<380:ANMIT1>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
ROD DOMAIN; EPIDERMOLYTIC HYPERKERATOSIS; INTERMEDIATE FILAMENTS; GENE-CLUSTER; LINKAGE; END;
Keywords:
genodermatosis; ichthyosis bullosa of Siemens; intermediate filaments; keratin 2e;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Roop, DR Baylor Coll Med, Dept Cell Biol, 1 Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med 1 Baylor Plaza Houston TX USA 77030 TX 77030 USA
Citazione:
M.J. Arin et al., "A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens", J INVES DER, 112(3), 1999, pp. 380-382

Abstract

Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK), Both diseases have been linked to the type II keratin cluster on chromosome12q, Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and the lysis of keratinocytes is restricted to the upper spinous and granular layers of the epidermis of IBS patients, whereas in EHK lysis occurs in the lower spinous layer. Recently, mutations in the helix initiation and termination motifs of keratin 2e (K2e) have been described in IBS patients. The majority of the mutations reported to date lie in the 2B region. In this report, we have examined a large kindred in which the disease was originally diagnosed as EHK and mapped to the type II keratin cluster on chromosome 12q, Molecular analysis revealed a novel amino acid substitution at the beginning of the conserved 1A region of the rod domain (I4N) of K2e, resulting from a T to A transversion in codon 188.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 00:38:25