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   CTSCbase
   Variation registry for  Papillon-Lefevre syndrome


CTSCbase mutation publications

[2010] [2008] [2007] [2006] [2005] [2004] [2003] [2002] [2001] [2000] [1999] [1998]

Search PubMed latest citations for CTSC mutations

    2010

  • A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.
    Kurban M, Cheng T, Wajid M, Kiuru M, Shimomura Y, Christiano AM
    J Eur Acad Dermatol Venereol 2010(8): 967-9 [PubMed abstract].

    2008

  • Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.
    Noack B, Görgens H, Schacher B, Puklo M, Eickholz P, Hoffmann T, Schackert HK
    J Clin Periodontol 2008(4): 311-6 [PubMed abstract].

  • Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
    Jouary T, Goizet C, Coupry I, Redonnet-Vernhet I, Levade T, Burgelin I, Toutain A, Delaporte E, Douillard C, Lacombe D, Taieb A, Arveiler B
    J Invest Dermatol 2008(2): 322-5 [PubMed abstract].

    2007

  • Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome.
    Yang Y, Bai X, Liu H, Li L, Cao C, Ge L
    J Dent Res 2007(8): 735-8 [PubMed abstract].

    2006

  • Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.
    Wani AA, Devkar N, Patole MS, Shouche YS
    J Periodontol 2006(2): 233-7 [PubMed abstract].

    2005

  • A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
    Cury VF, Gomez RS, Costa JE, Friedman E, Boson W, De Marco L
    Br J Dermatol 2005(2): 353-6 [PubMed abstract].

  • A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.
    Nitta H, Wara-Aswapati N, Lertsirivorakul J, Nakamura T, Yamamoto M, Izumi Y, Nakamura T, Ishikawa I
    J Periodontol 2005(3): 492-6 [PubMed abstract].

  • Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers.
    Hattab FN, Amin WM
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005(6): 709-16 [PubMed abstract].

  • Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.
    Beertsen W, de Haar SF, Mir M, Nguyen M, Kazemi B, Ramezani GH, Everts V, Beertsen W
    Hum Genet 2005(6): 545 [PubMed abstract].

  • Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.
    Cagli NA, Hakki SS, Dursun R, Toy H, Gokalp A, Ryu OH, Hart PS, Hart TC
    J Periodontol 2005(12): 2322-9 [PubMed abstract].

    2004

  • Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
    de Haar SF, Jansen DC, Schoenmaker T, De Vree H, Everts V, Beertsen W
    Hum Mutat 2004(5): 524 [PubMed abstract].

  • Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.
    Noack B, Görgens H, Hoffmann T, Fanghänel J, Kocher T, Eickholz P, Schackert HK
    J Dent Res 2004(5): 368-70 [PubMed abstract].

  • Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.
    Hewitt C, Wu CL, Hattab FN, Amin W, Ghaffar KA, Toomes C, Sloan P, Read AP, James JA, Thakker NS
    Br J Dermatol 2004(6): 1261-5 [PubMed abstract].

  • 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, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rüdiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N
    Hum Mutat 2004(3): 222-8 [PubMed abstract].

  • Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans.
    Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Ley TJ
    J Immunol 2004(12): 7277-81 [PubMed abstract].

    2003

  • Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
    Selvaraju V, Markandaya M, Prasad PV, Sathyan P, Sethuraman G, Srivastava SC, Thakker N, Kumar A
    BMC Med Genet 2003(): 5 [PubMed abstract].

  • A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.
    Allende LM, Moreno A, de Unamuno P
    Mol Genet Metab 2003(2): 146-8 [PubMed abstract].

    2002

  • Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome.
    Hart PS, Pallos D, Zhang Y, Sanchez J, Kavamura I, Brunoni D, Hart TC
    Mol Genet Metab 2002(2): 145-7 [PubMed abstract].

  • Demonstration of altered splicing with the IVS3-1G --> a mutation of cathepsin C.
    Nusier M, Zhang Y, Yassin O, Hart TC, Hart PS
    Mol Genet Metab 2002(3): 280-3 [PubMed abstract].

  • 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, Pettenati MJ, Hart TC
    Hum Mutat 2002(1): 75 [PubMed abstract].

  • A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.
    Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, De ML
    J Periodontol 2002(3): 307-12 [PubMed abstract].

    2001

  • Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
    Nakano A, Nomura K, Nakano H, Ono Y, LaForgia S, Pulkkinen L, Hashimoto I, Uitto J
    J Invest Dermatol 2001(2): 339-43 [PubMed abstract].

  • Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
    Allende LM, García-Pérez MA, Moreno A, Corell A, Carasol M, Martínez-Canut P, Arnaiz-Villena A
    Hum Mutat 2001(2): 152-3 [PubMed abstract].

  • Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
    Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'Homme JF, Fischer J
    J Invest Dermatol 2001(6): 1657-61 [PubMed abstract].

    2000

  • Localisation 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, Yassin OM, Nusier M, Walker S
    J Med Genet 2000(2): 95-101 [PubMed abstract].

  • Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
    Hart PS, Zhang Y, Firatli E, Uygur C, Lotfazar M, Michalec MD, Marks JJ, Lu X, Coates BJ, Seow WK, Marshall R, Williams D, Reed JB, Wright JT, Hart TC
    J Med Genet 2000(12): 927-32 [PubMed abstract].

  • 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, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA, Zlorogorski A
    J Med Genet 2000(2): 88-94 [PubMed abstract].

    1999

  • Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
    Hart TC, Hart PS, Bowden DW, Michalec MD, Callison SA, Walker SJ, Zhang Y, Firatli E
    J Med Genet 1999(12): 881-7 [PubMed abstract].

  • Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
    Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS
    Nat Genet 1999(4): 421-4 [PubMed abstract].

    1998

  • Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21.
    Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci I, Efeoglu A, Firatli E
    Am J Med Genet 1998(2): 134-9 [PubMed abstract].