611 related articles for article (PubMed ID: 14974080)
1. 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]
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. 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]
4. 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 Jul; 4():5. PubMed ID: 12857359
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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 Dec; 151(6):1261-5. PubMed ID: 15606524
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]