Associated Papers
Cathepsin C in health and disease: from structural insights to therapeutic prospects.
Chitsamankhun C et al.
Journal of Translational Medicine, 2024
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 et al.
Archives of Oral Biology, 2024
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
[Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome].
Hu TT et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 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: report of six patients and identification of a novel mutation.
Tekin B et al.
International Journal of Dermatology, 2016
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.
Nitta H et al.
Journal of Periodontology, 2005
A homozygous cathepsin C mutation associated with Haim-Munk syndrome.
Cury VF et al.
The British Journal of Dermatology, 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