Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Cathepsin C in health and disease: from structural insights to therapeutic prospects.
Chitsamankhun C et al.
Journal of Translational Medicine, 2024
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
Richter GM et al.
Journal of Dental Research, 2022
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Wu Y et al.
Oral Diseases, 2019
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
Molitor A et al.
Journal of Human Genetics, 2019
[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
Yuanjiao C et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Novel compound heterozygous mutations in CTSC gene cause Papillon-Lefèvre syndrome with high serum immunoglobulin E.
Li Z et al.
Journal of Dermatological Science, 2014
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
[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
Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.
Wani AA et al.
Journal of Periodontology, 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
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
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