메뉴 건너뛰기




Volumn 86, Issue 1, 2006, Pages 3-7

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

Author keywords

Cathepsin C gene mutation; Hyperkeratosis; Periodontal inflammation

Indexed keywords

ASPARTIC ACID; DIPEPTIDYL PEPTIDASE I; GLYCINE; MICROSATELLITE DNA;

EID: 33744779386     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.1080/00015550510011619     Document Type: Article
Times cited : (11)

References (22)
  • 2
    • 0032709548 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
    • Toomes C, James J, Wood AJ, Wu CL, McGormick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23: 421-424.
    • (1999) Nat Genet , vol.23 , pp. 421-424
    • Toomes, C.1    James, J.2    Wood, A.J.3    Wu, C.L.4    McGormick, D.5    Lench, N.6
  • 3
    • 0034528706 scopus 로고    scopus 로고
    • Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients
    • Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD, et al. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients. J Med Genet 2000; 37: 927-932.
    • (2000) J Med Genet , vol.37 , pp. 927-932
    • Hart, P.S.1    Zhang, Y.2    Firatli, E.3    Uygur, C.4    Lotfazar, M.5    Michalec, M.D.6
  • 4
    • 0027518670 scopus 로고
    • Generation of active myeloid and lymphoid granular serine proteases requires processing by the granular thiolprotease dipepdityl peptidase 1
    • McCuire MJ, Lipsky PE, Thiele DL. Generation of active myeloid and lymphoid granular serine proteases requires processing by the granular thiolprotease dipepdityl peptidase 1. J Biol Chem 1993; 268: 2458-2467.
    • (1993) J Biol Chem , vol.268 , pp. 2458-2467
    • McCuire, M.J.1    Lipsky, P.E.2    Thiele, D.L.3
  • 5
    • 0036633684 scopus 로고    scopus 로고
    • Biochemical and mutational analyses of the cathepsin C gene (CTSC) in three North American families with Papillon-Lefèvre syndrome
    • Zhang Y, Hart PS, Moretti AJ, Bouwsma OJ, Fisher EM, Dudlicek L, et al. Biochemical and mutational analyses of the cathepsin C gene (CTSC) in three North American families with Papillon-Lefèvre syndrome. Hum Mutat 2002; 20: 75.
    • (2002) Hum Mutat , vol.20 , pp. 75
    • Zhang, Y.1    Hart, P.S.2    Moretti, A.J.3    Bouwsma, O.J.4    Fisher, E.M.5    Dudlicek, L.6
  • 7
    • 0035260448 scopus 로고    scopus 로고
    • Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
    • Allende LM, Garcia-Perez MA, Moreno A, Corell A, Carasol M, Martinez-Canut P, et al. Cathepsin C gene: first compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Hum Mutat 2001; 17: 152-153.
    • (2001) Hum Mutat , vol.17 , pp. 152-153
    • Allende, L.M.1    Garcia-Perez, M.A.2    Moreno, A.3    Corell, A.4    Carasol, M.5    Martinez-Canut, P.6
  • 8
    • 12144286503 scopus 로고    scopus 로고
    • The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis
    • Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, et al. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat 2004; 23: 222-228.
    • (2004) Hum Mutat , vol.23 , pp. 222-228
    • Hewitt, C.1    McCormick, D.2    Linden, G.3    Turk, D.4    Stern, I.5    Wallace, I.6
  • 11
    • 0034056862 scopus 로고    scopus 로고
    • Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
    • Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 2000; 37: 88-94.
    • (2000) J Med Genet , vol.37 , pp. 88-94
    • Hart, T.C.1    Hart, P.S.2    Michalec, M.D.3    Zhang, Y.4    Firatli, E.5    Van Dyke, T.E.6
  • 12
    • 0034011450 scopus 로고    scopus 로고
    • Localization of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation
    • Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, et al. Localization of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet 2000; 37: 95-101.
    • (2000) J Med Genet , vol.37 , pp. 95-101
    • Hart, T.C.1    Hart, P.S.2    Michalec, M.D.3    Zhang, Y.4    Marazita, M.L.5    Cooper, M.6
  • 13
    • 0028521283 scopus 로고
    • Papillon-Lefèvre syndrome
    • Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontal 2000 1994; 6: 88-100.
    • (1994) Periodontal , vol.6 , pp. 88-100
    • Hart, T.C.1    Shapira, L.2
  • 14
    • 4243592044 scopus 로고    scopus 로고
    • Papillon-Lefèvre syndrome - a challenge to the dental team
    • abstract
    • Ullbro C, Lundgren T, Crossner C-G. Papillon-Lefèvre syndrome - a challenge to the dental team. Swed Dent J 1997; 6: 227 (abstract).
    • (1997) Swed Dent J , vol.6 , pp. 227
    • Ullbro, C.1    Lundgren, T.2    Crossner, C.-G.3
  • 16
    • 0035101470 scopus 로고    scopus 로고
    • Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients
    • Zhang Y, Lundgren T, Renvert S, Tatatkis DN, Firatli E, Uygur C, et al. Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients. J Med Genet 2001; 38: 96-101.
    • (2001) J Med Genet , vol.38 , pp. 96-101
    • Zhang, Y.1    Lundgren, T.2    Renvert, S.3    Tatatkis, D.N.4    Firatli, E.5    Uygur, C.6
  • 17
    • 58149435197 scopus 로고
    • The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth
    • Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964; 64: 895-908.
    • (1964) J Pediatr , vol.64 , pp. 895-908
    • Gorlin, R.J.1    Sedano, H.2    Anderson, V.E.3
  • 20
    • 0030897071 scopus 로고    scopus 로고
    • Rao NV, Rao GV, Hoidal JR. Human dipeptidylpeptidase I. Gene characterization, localization, and expression. J Biol Chem 1997; 272: 10260-10265.
    • Rao NV, Rao GV, Hoidal JR. Human dipeptidylpeptidase I. Gene characterization, localization, and expression. J Biol Chem 1997; 272: 10260-10265.
  • 21
    • 0036739220 scopus 로고    scopus 로고
    • The molecular basis of hereditary palmoplantar keratodermas
    • Kimyai-Asadi A, Kotcher LB, Jih MH. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol 2002; 47: 327-343.
    • (2002) J Am Acad Dermatol , vol.47 , pp. 327-343
    • Kimyai-Asadi, A.1    Kotcher, L.B.2    Jih, M.H.3
  • 22
    • 0037263876 scopus 로고    scopus 로고
    • Structure and function of the tooth-epithelial interface in health and disease
    • Pöllänen MT, Salonen JI, Uitto VJ. Structure and function of the tooth-epithelial interface in health and disease. Periodontol 2000 2003; 31: 12-31.
    • (2003) Periodontol 2000 , vol.31 , pp. 12-31
    • Pöllänen, M.T.1    Salonen, J.I.2    Uitto, V.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.