These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 11180601)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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 Dec; 117(6):1657-61. PubMed ID: 11886537
    [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. 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]  

  • 16. Novel CTSC mutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement.
    Castori M; Madonna S; Giannetti L; Floriddia G; Milioto M; Amato S; Castiglia D
    Br J Dermatol; 2009 Apr; 160(4):881-3. PubMed ID: 18945301
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
    Zhang Y; Lundgren T; Renvert S; Tatakis DN; Firatli E; Uygur C; Hart PS; Gorry MC; Marks JJ; Hart TC
    J Med Genet; 2001 Feb; 38(2):96-101. PubMed ID: 11158173
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
    Nakajima K; Nakano H; Takiyoshi N; Rokunohe A; Ikenaga S; Aizu T; Kaneko T; Mitsuhashi Y; Sawamura D
    Dermatology; 2008; 217(1):58-62. PubMed ID: 18401176
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.