130 related articles for article (PubMed ID: 38104461)
1. Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Abdel-Hamid MS; Abouzaid MR; Mostafa MI; Ahmed NE
Arch Oral Biol; 2024 Feb; 158():105869. PubMed ID: 38104461
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.
Sabry S; Abouzaid MR; Mostafa MI; Abdel-Hamid MS; Saad AK; Soliman HN; Ahmed NEB
Eur J Med Genet; 2022 Oct; 65(10):104605. PubMed ID: 36058494
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome].
Yang Y; Bai XW; Liu HS; Cao CF; Ge LH
Zhonghua Kou Qiang Yi Xue Za Zhi; 2006 Oct; 41(10):602-5. PubMed ID: 17129448
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.
Meenu S; Pradeep B; Ramalingam S; Sairam T; Rai R; Sankaran R
Mol Biol Rep; 2020 Jul; 47(7):5681-5687. PubMed ID: 32601924
[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 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]
13. 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 Aug; 24(8):967-9. PubMed ID: 20236208
[TBL] [Abstract][Full Text] [Related]
14. 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 Feb; 128(2):322-5. PubMed ID: 17943190
[TBL] [Abstract][Full Text] [Related]
15. CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Wu Y; Zhao L; Xu C; Wu Y
Oral Dis; 2019 Jul; 25(5):1394-1402. PubMed ID: 30908832
[TBL] [Abstract][Full Text] [Related]
16. Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.
Pallos D; Acevedo AC; Mestrinho HD; Cordeiro I; Hart TC
J Dent Child (Chic); 2010; 77(1):36-41. PubMed ID: 20359428
[TBL] [Abstract][Full Text] [Related]
17. [Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
Liu C; Tian Z; Yang Q; Ma Q; Xu X; Xiong F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):150-4. PubMed ID: 27060303
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Clinical and molecular analysis in Papillon-Lefèvre syndrome.
Machado RA; Cuadra-Zelaya FJM; Martelli-Júnior H; Miranda RT; Casarin RCV; Corrêa MG; Nociti F; Coletta RD
Am J Med Genet A; 2019 Oct; 179(10):2124-2131. PubMed ID: 31282082
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]