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Titolo:
EVIDENCE FOR GENETIC-HETEROGENEITY IN MONILETHRIX
Autore:
RICHARD G; ITIN P; LIN JP; BON A; BALE SJ;
Indirizzi:
NIAMS,GENET STUDIES SECT,SKIN BIOL LAB,NIH,BLDG 6,ROOM 429,6 CTR DR,MSC 2757 BETHESDA MD 20892 UNIV BASEL,DEPT DERMATOL BASEL SWITZERLAND
Titolo Testata:
Journal of investigative dermatology
fascicolo: 6, volume: 107, anno: 1996,
pagine: 812 - 814
SICI:
0022-202X(1996)107:6<812:EFGIM>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
KERATIN GENE; LINKAGE; CLUSTER; 12Q13;
Keywords:
HAIR; ALOPECIA; KERATIN INTERMEDIATE FILAMENTS; KERATIN INTERMEDIATE FILAMENT-ASSOCIATED PROTEIN; TRICHOHYALIN; TRANSGLUTAMINASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
G. Richard et al., "EVIDENCE FOR GENETIC-HETEROGENEITY IN MONILETHRIX", Journal of investigative dermatology, 107(6), 1996, pp. 812-814

Abstract

Monilethrix is a rare inherited defect of the hair shaft resulting inhair fragility and dystrophic alopecia. In contrast to recent reportsmapping monilethrix to the type II epithelial and trichocyte keratin gene cluster on 12q13, we strongly excluded these candidate genes in another family with autosomal dominant monilethrix, Moreover, there wasno evidence for linkage of the disease to the keratin gene cluster onchromosome 17q12-q21, thus excluding defects in all known trichocyte and epithelial keratins as the cause of monilethrix in this family, Likewise, several other genes known to play an important role in hair shaft formation (trichohyalin and involucrin, ultra-high sulfur matrix proteins, and transglutaminases 1, 2, and 3) did not provide any evidence for linkage. Our results indicate genetic heterogeneity in monilethrix and suggest that aberrations in at least one other gene result in a similar phenotype.

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Documento generato il 24/09/20 alle ore 23:31:18