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Volumn 130, Issue 3, 2010, Pages 892-895

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; KERATIN 85; UNCLASSIFIED DRUG;

EID: 76649103030     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.341     Document Type: Letter
Times cited : (36)

References (9)
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    • Pili torti and onycho-dysplasia: Report of a previously undescribed hidrotic ectodermal dysplasia
    • Calzavara-Pinton P, Carlino A, Benetti A, De Panfilis G (1991) Pili torti and onycho-dysplasia: report of a previously undescribed hidrotic ectodermal dysplasia. Dermato-logica 182:184-187
    • (1991) Dermato-logica , vol.182 , pp. 184-187
    • Calzavara-Pinton, P.1    Carlino, A.2    Benetti, A.3    De Panfilis, G.4
  • 3
    • 0036468732 scopus 로고    scopus 로고
    • 'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments
    • Coulombe PA, Omary MB (2002) 'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments. Curr Opin Cell Biol 14:110-122
    • (2002) Curr Opin Cell Biol , vol.14 , pp. 110-122
    • Coulombe, P.A.1    Omary, M.B.2
  • 4
    • 0024986411 scopus 로고
    • Pathogenesis of monilethrix: Computer stereography and electron microscopy
    • Ito M, Hashimoto K, Katsuumi K, Sato Y (1990) Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186-194
    • (1990) J Invest Dermatol , vol.95 , pp. 186-194
    • Ito, M.1    Hashimoto, K.2    Katsuumi, K.3    Sato, Y.4
  • 5
    • 0035860762 scopus 로고    scopus 로고
    • The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type i and II keratins
    • Langbein L, Rogers MA, Winter H, Praetzel S, Schweizer J (2001) The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. J Biol Chem 276:35123-35132
    • (2001) J Biol Chem , vol.276 , pp. 35123-35132
    • Langbein, L.1    Rogers, M.A.2    Winter, H.3    Praetzel, S.4    Schweizer, J.5
  • 6
    • 33750920309 scopus 로고    scopus 로고
    • Ectodermal dysplasia of hair and nail type: Mapping of a novel locus to chromosome 17p12-q21.2
    • Naeem M, Jelani M, Lee K et al. (2006a) Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2. Br J Dermatol 155:1184-1190
    • (2006) Br J Dermatol , vol.155 , pp. 1184-1190
    • Naeem, M.1    Jelani, M.2    Lee, K.3
  • 7
    • 33645121546 scopus 로고    scopus 로고
    • A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ecto-dermal dysplasia of hair and nail type
    • Naeem M, Wajid M, Lee K, Leal SM, Ahmad W (2006b) A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ecto-dermal dysplasia of hair and nail type. J Med Genet 43:274-279
    • (2006) J Med Genet , vol.43 , pp. 274-279
    • Naeem, M.1    Wajid, M.2    Lee, K.3    Leal, S.M.4    Ahmad, W.5
  • 8
    • 34547822431 scopus 로고    scopus 로고
    • Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family
    • Naeem M, John P, Ali G, Ahmad W (2007) Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Clin Exp Dermatol 32:502-505
    • (2007) Clin Exp Dermatol , vol.32 , pp. 502-505
    • Naeem, M.1    John, P.2    Ali, G.3    Ahmad, W.4
  • 9
    • 4544320330 scopus 로고    scopus 로고
    • Expression of hair keratins in the adult nail unit: An immunohistochemical analysis of the ony-chogenesis in the proximal nail fold, matrix and nail bed
    • Perrin C, Langbein L, Schweizer J (2004) Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the ony-chogenesis in the proximal nail fold, matrix and nail bed. Br J Dermatol 151:362-371
    • (2004) Br J Dermatol , vol.151 , pp. 362-371
    • Perrin, C.1    Langbein, L.2    Schweizer, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.