CTSC Antibody

1. expression markedly increased in the maternal vascular endothelium in subjects with preeclampsia compared with normal pregnant controls PMID: 28878298
2. A compound mutation consisting of a large deletion and a nonsense mutation, which provides a new insight in the mutation type of CTSC gene. PMID: 26385525
3. CTSC gene missense mutation is responsible for Papillo- Lefevre syndrome in a Turkish family. PMID: 27062382
4. analysis of fluorescent substrates provides a detailed S' specificity study of cathepsin C PMID: 27746119
5. Mutation screening of the CTSC gene from the two patients revealed the presence of the same homozygous nonsense mutation in Papillon-Lefevre syndrome and Haim-Munk syndromes. Phenotypic variants of the same rare disease caused by mutations of the cathepsin C (CTSC) gene. PMID: 26205983
6. Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases. PMID: 26884336
7. CTSC was associated with albuminuria in type 2 diabetes patients. PMID: 26631737
8. Homozygous mutation 901G>A in exon 7 of CTSC gene is associated with Papillon-Lefevre syndrome. PMID: 27060303
9. Results identify a missense mutation in CTSC gene that segregate within a family with Papillon-Lefevre syndrome. PMID: 25799584
10. Papillon-Lefevre syndrome cause by homozygous nonsense mutation of cathepsin C gene. PMID: 24894642
11. CatC has a role in the selective tuning of innate and adaptive immune responses, relevant to a chronic immune disease, such as atherosclerosis. PMID: 25395616
12. cathepsin C in GCF does not seem to have an effect on the pathogenesis of periodontal diseases. PMID: 24949444
13. The present account of the 148.621 kb homozygous deletion on chromosome 11 is the first report of a mutational mechanism encompassing the whole CTSC gene. PMID: 23556547
14. CTSC mutations in 5 Iranian families with Papillon-Lefevre syndrome (PLS)analyzed; modeled the protein for mutations found in 2 of them; presence of this mutation provides evidence for founder CTSC mutations in PLS; this P35delL mutation leads to loss of a leucine residue; results indicate the phenotypes in these 2 patients likely due to CTSC mutations PMID: 24374475
15. Report novel deletion mutation in CTSC gene in Hungarian family with Papillon-Lefevre syndrome. PMID: 23397598
16. Cathepsin C gene 5'-untranslated region mutation in papillon-lefevre syndrome in 4 unrelated families in Slovenia PMID: 23108224
17. The novel loss-of function mutation of CTSC gene (c.203 T > G) found in Papillon-Lefevre Syndrome patients correlated with their diminished enzymatic activity. PMID: 23311634
18. present a catalytic model derived from the relative rates of the acylation vs deacylation half-reactions of cathepsin C. PMID: 22928782
19. The Cathepsin C releases the glycosidases from complexes formed with cathepsin A, and reinstates their activity. PMID: 22532132
20. Two Indian siblings present with Haim Munk syndrome (HMS) and its cardinal features including palmoplantar keratoderma, periodontitis. arachnodactyly, acroosteolysis, onychogryphosis, osteopenia as well as allelic mutation of cathepsin C exon 6 codon. PMID: 21393975
21. Processing of human protryptase in mast cells involves cathepsins L, B, and C. PMID: 21742978
22. A novel mutation in the cathepsin C gene is reported in a Pakistani family with Papillon-Lefevre syndrome. PMID: 20236208
23. This report described a novel mutation (c.267-268del)in a family with Brazilian Papillon-Lefevre syndrome and presented a review of all cathepsin C (65) mutations reported to date. PMID: 20359428
24. study identified an identical recurrent missense mutation, R272P, in 3 families with Papillon-Lefevre syndrome(PLS); presence of this mutation in families from 2 different geographical areas provides evidence for founder effect for CTSC mutations in PLS PMID: 19816003
25. Sequencing of the mutant cathepsin C transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon in Papillon-Lefevre syndrome. PMID: 11914041
26. Selective inhibition prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes PMID: 12080079
27. Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome. PMID: 12083812
28. All Papillon-Lefevre syndrome affected individuals from three Indian families showed three novel homozygous nonsense mutations in CTSC. PMID: 12857359
29. Three novel CTSC missense mutations found in 21 Papillon-Lefevre syndrome families, and a complete loss of CTSC function appears to be necessary for the manifestation of this phenotype. PMID: 14974080
30. homozygous deletion of 7 nucelotides in exon 4, creating a premature stop codon 11 amino acids downstream; 2 heterozygous missense mutations in exon 7: 1) substitution of leucine by arginine; 2)changing tryptophan to serine. PMID: 15111626
31. This report describes the apparent reason why the study of the natural history of human patients with Papillon-Lefevre syndrome has failed to detect a generalized T cell immunodeficiency phenotype. PMID: 15585850
32. DPP-I may play a role in converting endogenous beta-melanocortin MSH(5-22) to more potent peptides that regulate energy homeostasis in the hypothalamus. PMID: 15985311
33. The structure of the inhibitor complex provides an explanation of the substrate specificity of hDPPI, and gives a background for the design of new inhibitors. PMID: 17020538
34. inhibition of activation of multiple serine proteases with a cathepsin C inhibitor requires sustained exposure to prevent pro-enzyme processing PMID: 17535802
35. Novel mutations in two Chinese patients with Papillon-Lefevre syndrome PMID: 17652201
36. G386R missense mutation and an intragenic deletion spanning exons 3-7 and homozygous splice site mutation, p.A253SfsX30 found in papillon-Lefevre syndrome PMID: 17943190
37. study aimed to identify CTSC mutations in different Papillon-Lefevre phenotypes, including atypical forms and isolated pre-pubertal aggressive periodontitis PMID: 18294227
38. Cathepsin C propeptide interacts with intestinal alkaline phosphatase (IAP) and heat shock cognate protein 70. The propeptide of cathepsin C may stimulate the sorting to the lysosome contributing to the degradation of IAP in Caco-2 cells. PMID: 18307834
39. gene variants contribute to increased susceptibility in generalized aggressive periodontitis PMID: 18809751
40. Mutations of the cathepsin C gene are probably responsible for the phenotype of Papillon-Lefevre syndrome in this family. PMID: 18841559

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HGNC: 2528

OMIM: 170650

KEGG: hsa:1075

STRING: 9606.ENSP00000227266

UniGene: Hs.128065