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
Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.
McCarthy RL et al.
Clinical and Experimental Dermatology, 2023
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
First case of symmetrical acral keratoderma in Japan with filaggrin mutation who showed marked improvement in skin manifestations using moisturizer.
Akaji K et al.
The Journal of Dermatology, 2020
Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations.
Hayashi M et al.
The Journal of Dermatology, 2020
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
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Wu Y et al.
Oral Diseases, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha D et al.
Molecular Genetics & Genomic Medicine, 2019
[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
Liu C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age.
Kobayashi T et al.
The British Journal of Dermatology, 2013
Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: implications for understanding the genotype/phenotype relationship.
Ochiai T et al.
Journal of Dermatological Science, 2009
[Mutational analysis of the cathepsin C gene in a family of Han nationality with Papillon-Lefevre syndrome].
Li X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
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
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
Zhang Y et al.
Journal of Medical Genetics, 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
Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.
Ragunatha S et al.
Pediatric Dermatology, 0