Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Genetic Susceptibility to Periodontitis.
Richter GM et al.
Journal of Periodontal Research, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis-A synthesis of recent findings.
Schaefer AS et al.
Periodontology 2000, 2025
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.
Tarozzi M et al.
Acta Neuropathologica Communications, 2022
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
Richter GM et al.
Journal of Dental Research, 2022
Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy.
Rendo V et al.
Nature Communications, 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
Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.
Yamada Y et al.
International Journal of Molecular Medicine, 2017
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
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Mitochondrial polymorphisms and dysfunction related to aggressive periodontitis: a pilot study.
Wang X et al.
Oral Diseases, 2014
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Auer PL et al.
Nature Genetics, 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
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
Cathepsin C gene variants in aggressive periodontitis.
Noack B et al.
Journal of Dental Research, 2008
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C et al.
Human Mutation, 2004
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.
Nakano A et al.
The Journal of Investigative Dermatology, 2001