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Titolo:
Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6
Autore:
Horev, L; Glaser, B; Ben-Amitai, D; Vardy, D; Zlotogorski, A;
Indirizzi:
Hadassah Med Ctr, Dept Dermatol, IL-91120 Jerusalem, Israel Hadassah Med Ctr Jerusalem Israel IL-91120 l, IL-91120 Jerusalem, Israel Hadassah Med Ctr, Dept Endocrinol & Metab, IL-91120 Jerusalem, Israel Hadassah Med Ctr Jerusalem Israel IL-91120 b, IL-91120 Jerusalem, Israel Sourasky Med Ctr, Dept Dermatol, Tel Aviv, Israel Sourasky Med Ctr Tel Aviv Israel d Ctr, Dept Dermatol, Tel Aviv, Israel Rabin Med Ctr, Dept Dermatol, Petah Tikva, Israel Rabin Med Ctr Petah Tikva Israel tr, Dept Dermatol, Petah Tikva, Israel Kuupat Holim Clalit, Dermatol Clin, Beer Sheva, Israel Kuupat Holim Clalit Beer Sheva Israel Dermatol Clin, Beer Sheva, Israel
Titolo Testata:
HUMAN HEREDITY
fascicolo: 5, volume: 50, anno: 2000,
pagine: 325 - 330
SICI:
0001-5652(200009/10)50:5<325:MMHITH>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN TYPE-I; ICHTHYOSIS BULLOSA; GENE-CLUSTER; CHROMOSOMAL LOCALIZATION; ROD DOMAIN; EXPRESSION; SIEMENS; HHB6; 2E; 12Q13;
Keywords:
monilethrix; hHb6 keratin; hotspot; hair; helix termination motif;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Zlotogorski, A Hadassah Univ Hosp, Dept Dermatol, IL-91120 Jerusalem, Israel Hadassah Univ Hosp Jerusalem Israel IL-91120 alem, Israel
Citazione:
L. Horev et al., "Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6", HUMAN HERED, 50(5), 2000, pp. 325-330

Abstract

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis. Mutations in the human basic hair keratins hHb1 and hHb6 have recently been reported in this disease. Twelve families and sporadic cases were clinically diagnosed with monilethrix and were available for the study. The gene segment encoding the helix termination motif region of keratin hHb6 was PCR amplified and sequenced. Mutations were recognized in 6 families. Four families had the previously described mutations, Glu413Lys and Glu413Asp, In 2 unrelated families, a novel mutation, Glu402Lys, was identified. No clear association was found between the severity of the phenotype and the mutation carried. Furthermore, heterozygous members of the same family had variable degrees of hair and skin involvement. Homozygous patients identified in one large consanguineous family were more severely affected. Other genetic or environmental factors may also play arole in monilethrix. Copyright (C) 2000 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 14:04:31