BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 31925812)

  • 1. Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
    Pap ÉM; Farkas K; Tóth L; Fábos B; Széll M; Németh G; Nagy N
    Clin Exp Dermatol; 2020 Jul; 45(5):555-559. PubMed ID: 31925812
    [TBL] [Abstract][Full Text] [Related]  

  • 2. One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
    Sulák A; Tóth L; Farkas K; Tripolszki K; Fábos B; Kemény L; Vályi P; Nagy K; Nagy N; Széll M
    Clin Exp Dermatol; 2016 Mar; 41(2):190-5. PubMed ID: 26205983
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    J Med Genet; 2000 Feb; 37(2):88-94. PubMed ID: 10662807
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
    Wei H; Wee LWY; Born B; Seang S; Koh MJA; Yee R; Lin G; Rafi'ee K; Mey S; Tan EC
    Am J Med Genet A; 2020 Feb; 182(2):296-302. PubMed ID: 31846207
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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 Feb; 152(2):353-6. PubMed ID: 15727652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.
    Rai R; Thiagarajan S; Mohandas S; Natarajan K; Shanmuga Sekar C; Ramalingam S
    Int J Dermatol; 2010 May; 49(5):541-3. PubMed ID: 20534088
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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 Apr; 35(4):311-6. PubMed ID: 18294227
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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 Aug; 86(8):735-8. PubMed ID: 17652201
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
    Ragunatha S; Ramesh M; Anupama P; Kapoor M; Bhat M
    Pediatr Dermatol; 2015; 32(2):292-4. PubMed ID: 24894642
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.
    Moghaddasian M; Arab H; Dadkhah E; Boostani H; Babak AR; Abbaszadegan MR
    Gene; 2014 Mar; 538(1):182-7. PubMed ID: 24374475
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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 Mar; 23(3):222-8. PubMed ID: 14974080
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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 Feb; 17(2):152-3. PubMed ID: 11180601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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 Mar; 73(3):307-12. PubMed ID: 11922261
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
    Kurban M; Wajid M; Shimomura Y; Bahhady R; Kibbi AG; Christiano AM
    Dermatology; 2009; 219(4):289-94. PubMed ID: 19816003
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
    Nagy N; Vályi P; Csoma Z; Sulák A; Tripolszki K; Farkas K; Paschali E; Papp F; Tóth L; Fábos B; Kemény L; Nagy K; Széll M
    Mol Genet Genomic Med; 2014 May; 2(3):217-28. PubMed ID: 24936511
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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 Jul; 20(1):75. PubMed ID: 12112662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.
    McCarthy RL; Gnanappiragasam D; Scorer M; Taylor M; O'Toole EA
    Clin Exp Dermatol; 2023 Oct; 48(11):1298-1300. PubMed ID: 37493199
    [No Abstract]   [Full Text] [Related]  

  • 18. [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
    Vályi P; Farkas K; Tripolszki K; Sulák A; Széll M; Nagy N; Nagy K
    Fogorv Sz; 2014 Sep; 107(3):87-92. PubMed ID: 25509509
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome.
    Farkas K; Paschali E; Papp F; Vályi P; Széll M; Kemény L; Nagy N; Csoma Z
    Arch Dermatol Res; 2013 Jul; 305(5):453-5. PubMed ID: 23397598
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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 Dec; 36(12):881-7. PubMed ID: 10593994
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.