Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.
Alrubaiaan M et al.
Reports (mdpi), 2025
Cathepsin C in health and disease: from structural insights to therapeutic prospects.
Chitsamankhun C et al.
Journal of Translational Medicine, 2024
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
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
Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.
Meenu S et al.
Molecular Biology Reports, 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
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
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Alkhiary YM et al.
Saudi Journal of Biological Sciences, 2016
Characterization of neutrophil function in Papillon-Lefèvre syndrome.
Roberts H et al.
Journal of Leukocyte Biology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
Multiple cerebral abscesses in Papillon-Lefèvre syndrome.
Kanthimathinathan HK et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2013
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
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
[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
Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
Ullbro C et al.
Acta Dermato-venereologica, 2006
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
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.
de Haar SF et al.
Human Mutation, 2004
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
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
Zhang Y et al.
Human Mutation, 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
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
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 and Basal Cell Carcinoma: A Case Study.
Alsaif FM et al.
Case Reports in Oncology, 0