BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

281 related articles for article (PubMed ID: 15108292)

  • 1. 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 May; 23(5):524. PubMed ID: 15108292
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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 Dec; 76(12):2322-9. PubMed ID: 16332247
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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 Dec; 23(4):421-4. PubMed ID: 10581027
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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 Feb; 77(2):233-7. PubMed ID: 16460249
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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 Dec; 173(12):7277-81. PubMed ID: 15585850
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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 Mar; 76(3):492-6. PubMed ID: 15857086
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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 Dec; 100(6):709-16. PubMed ID: 16301152
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.
    Kosem R; Debeljak M; Repič Lampret B; Kansky A; Battelino T; Trebušak Podkrajšek K
    Dermatology; 2012; 225(3):193-203. PubMed ID: 23108224
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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 Mar; 75(3):280-3. PubMed ID: 11914041
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
    Ullbro C; El-Samadi S; Boumah C; Al-Yousef N; Wakil S; Twetman S; Alfadley A; Thestrup-Pedersen K; Meyer B
    Acta Derm Venereol; 2006; 86(1):3-7. PubMed ID: 16585980
    [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. A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.
    Sanchez Klose FP; Björnsdottir H; Dahlstrand Rudin A; Persson T; Khamzeh A; Sundqvist M; Thorbert-Mros S; Dieckmann R; Christenson K; Bylund J
    PLoS One; 2021; 16(12):e0261724. PubMed ID: 34932608
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.