Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Cathepsin C in health and disease: from structural insights to therapeutic prospects.
Chitsamankhun C et al.
Journal of Translational Medicine, 2024
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2021
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
Wei H et al.
American Journal of Medical Genetics. Part A, 2020
Clinical and molecular analysis in Papillon-Lefèvre syndrome.
Machado RA et al.
American Journal of Medical Genetics. Part A, 2019
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
Seren S et al.
The Journal of Biological Chemistry, 2018
[Papillon-Lefèvre syndrome: A new case].
Martinho S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Nagy N et al.
Molecular Genetics & Genomic Medicine, 2014
Protein modeling of cathepsin C mutations found in Papillon-Lefèvre syndrome.
Moghaddasian M et al.
Gene, 2014
Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
Kurban M et al.
Dermatology (basel, Switzerland), 2009
Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.
Noack B et al.
Journal of Clinical Periodontology, 2008
A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.
Nitta H et al.
Journal of Periodontology, 2005
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C et al.
Human Mutation, 2004
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
Selvaraju V et al.
Bmc Medical Genetics, 2003
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002
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 et al.
The Journal of Investigative Dermatology, 2001
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
Nakano A et al.
The Journal of Investigative Dermatology, 2001
Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.
Hart PS et al.
Journal of Medical Genetics, 2000
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
Toomes C et al.
Nature Genetics, 1999
Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.
Pallos D et al.
Journal of Dentistry for Children (chicago, Ill.), 0