Associated Papers
Haim-Munk syndrome caused by mutation in the CTSC gene in an Indian consanguineous family.
Lalu M et al.
Indian Journal of Dermatology, Venereology and Leprology, 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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
Sulák A et al.
Clinical and Experimental 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
Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.
Aswath N et al.
European Journal of Dentistry, 2014
Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.
Rai R et al.
International Journal of Dermatology, 2010
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
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.
Selvaraju V et al.
Bmc Medical Genetics, 2003
A novel mutation of the cathepsin C gene in Papillon-Lefèvre syndrome.
Cury VF et al.
Journal of Periodontology, 2002
A Novel Mutation of the Cathepsin C Gene in Papillon-Lefévre Syndrome.
Cury VF et al.
Journal of Periodontology, 2002
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