Associated Papers
Cathepsin C in health and disease: from structural insights to therapeutic prospects.
Chitsamankhun C et al.
Journal of Translational Medicine, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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 et al.
Plos One, 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
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Wu Y et al.
Oral Diseases, 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
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
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
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
Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.
Hart TC 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