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    CTSC cathepsin C [ Homo sapiens (human) ]

    Gene ID: 1075, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    [Single-cell transcriptomic sequencing coupled with Mendelian randomization analysis elucidates the pivotal role of CTSC in chronic rhinosinusitis].

    [Single-cell transcriptomic sequencing coupled with Mendelian randomization analysis elucidates the pivotal role of CTSC in chronic rhinosinusitis].
    Zhou SC, Lai J, Fan K, Li JW, Xu XY, Yao CY, Long BJ, Zhao CL, Che N, Gao YY, Yu SQ.

    08/13/2024
    Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefevre syndrome.

    Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefèvre syndrome.
    Sakai A, Shinkuma S, Miura N, Deguchi T, Oginezawa M, Nakajima M, Katsumi T, Hayashi R, Abe R.

    01/30/2024
    Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.

    Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
    Abdel-Hamid MS, Abouzaid MR, Mostafa MI, Ahmed NE.

    01/12/2024
    Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.

    Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.
    Aghdassi AA, Pham C, Zierke L, Mariaule V, Korkmaz B, Rhimi M.

    01/3/2024
    Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.

    Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia.
    Song J, Zhu N, Pan X, Guo L, Kong X., Free PMC Article

    10/10/2023
    Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.

    Cathepsin C promotes colorectal cancer metastasis by regulating immune escape through upregulating CSF1.
    Dang YZ, Chen XJ, Yu J, Zhao SH, Cao XM, Wang Q.

    03/21/2023
    Evolutionary Analysis of Dipeptidyl Peptidase I.

    Evolutionary Analysis of Dipeptidyl Peptidase I.
    Varda N, Novinec M., Free PMC Article

    03/12/2022
    Downregulation of cathepsin C alleviates endothelial cell dysfunction by suppressing p38 MAPK/NF-kappaB pathway in preeclampsia.

    Downregulation of cathepsin C alleviates endothelial cell dysfunction by suppressing p38 MAPK/NF-κB pathway in preeclampsia.
    Lu F, Gong H, Lei H, Li J., Free PMC Article

    03/12/2022
    Cathepsin C Regulates Cytokine-Induced Apoptosis in beta-Cell Model Systems.

    Cathepsin C Regulates Cytokine-Induced Apoptosis in β-Cell Model Systems.
    Fløyel T, Frørup C, Størling J, Pociot F., Free PMC Article

    02/19/2022
    A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

    A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.
    Ghanei M, Abbaszadegan MR, Forghanifard MM, Aarabi A, Arab H., Free PMC Article

    02/5/2022
    Cathepsin C Is Involved in Macrophage M1 Polarization via p38/MAPK Pathway in Sudden Cardiac Death.

    Cathepsin C Is Involved in Macrophage M1 Polarization via p38/MAPK Pathway in Sudden Cardiac Death.
    Dai J, Liu J, Zhang Q, An Y, Xia B, Wan C, Zhang Y, Yu Y, Wang J., Free PMC Article

    12/11/2021
    Cathepsin C promotes breast cancer lung metastasis by modulating neutrophil infiltration and neutrophil extracellular trap formation.

    Cathepsin C promotes breast cancer lung metastasis by modulating neutrophil infiltration and neutrophil extracellular trap formation.
    Xiao Y, Cong M, Li J, He D, Wu Q, Tian P, Wang Y, Yang S, Liang C, Liang Y, Wen J, Liu Y, Luo W, Lv X, He Y, Cheng DD, Zhou T, Zhao W, Zhang P, Zhang X, Xiao Y, Qian Y, Wang H, Gao Q, Yang QC, Yang Q, Hu G.

    10/2/2021
    Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

    Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
    Wei H, Wee LWY, Born B, Seang S, Koh MJA, Yee R, Lin G, Rafi'ee K, Mey S, Tan EC.

    01/16/2021
    WES revealed two putative phenotype-modifying variants: (i) a missense mutation (rs34608771) of the SH2 domain containing 4A (SH2D4A) gene encoding an adaptor protein involved in intracellular signalling of cystatin F, a known inhibitor of the cathepsin protein, and (ii) a missense variant (rs55695858) of the odorant binding protein 2A (OBP2A) gene, influencing the function of the cathepsin protein

    Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
    Pap ÉM, Farkas K, Tóth L, Fábos B, Széll M, Németh G, Nagy N.

    07/11/2020
    Active cathepsin C lacking the exclusion domain has endoproteolytic activity. The enzyme has a preference for Leu, Phe and Pro, but not Val, in position P2. It cleaves macromolecular substrates such as elastin and gelatin. It is more stable at pH 7.4 than other ubiquitous lysosomal proteases.

    The catalytic domain of cathepsin C (dipeptidyl-peptidase I) alone is a fully functional endoprotease.
    Rebernik M, Lenarčič B, Novinec M.

    04/11/2020
    A novel homozygous missense variant in exon 2 of CTSC (NM_148170, c.G302C, p.Trp101Ser) predicted to disrupt protein structure and to be disease causing.

    Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
    Molitor A, Prud'homme T, Miao Z, Conrad S, Bloch-Zupan A, Pichot A, Hanauer A, Isidor B, Bahram S, Carapito R.

    12/7/2019
    the study reveals that CTSC targeting plays a key role in the regulation of autophagy mediated colorectal cancer cell proliferation.

    Targeting of cathepsin C induces autophagic dysregulation that directs ER stress mediated cellular cytotoxicity in colorectal cancer cells.
    Khaket TP, Singh MP, Khan I, Bhardwaj M, Kang SC.

    08/24/2019
    Mutations of CTSC gene are responsible for the phenotype of Papillon-Lefevre syndrome

    [Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome].
    Hu TT, Zou XY, Ye F., Free PMC Article

    06/15/2019
    expression markedly increased in the maternal vascular endothelium in subjects with preeclampsia compared with normal pregnant controls

    Upregulation of cathepsin C expression contributes to endothelial chymase activation in preeclampsia.
    Gu Y, Lewis DF, Alexander JS, Wang Y.

    07/21/2018
    A compound mutation consisting of a large deletion and a nonsense mutation, which provides a new insight in the mutation type of CTSC gene.

    A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.
    Wu W, Chen B, Chen X, Chen L, Yi L, Wang Y, Yan F, Sun W.

    12/16/2017
    CTSC gene missense mutation is responsible for Papillo- Lefevre syndrome in a Turkish family.

    Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
    Tekin B, Yucelten D, Beleggia F, Sarig O, Sprecher E.

    07/1/2017
    analysis of fluorescent substrates provides a detailed S' specificity study of cathepsin C

    Development of the first internally-quenched fluorescent substrates of human cathepsin C: The application in the enzyme detection in biological samples.
    Łęgowska M, Hamon Y, Wojtysiak A, Grzywa R, Sieńczyk M, Burster T, Korkmaz B, Lesner A.

    05/13/2017
    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.

    One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
    Sulák A, Tóth L, Farkas K, Tripolszki K, Fábos B, Kemény L, Vályi P, Nagy K, Nagy N, Széll M.

    12/17/2016
    Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases.

    Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases.
    Hamon Y, Legowska M, Hervé V, Dallet-Choisy S, Marchand-Adam S, Vanderlynden L, Demonte M, Williams R, Scott CJ, Si-Tahar M, Heuzé-Vourc'h N, Lalmanach G, Jenne DE, Lesner A, Gauthier F, Korkmaz B., Free PMC Article

    10/8/2016
    CTSC was associated with albuminuria in type 2 diabetes patients.

    Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.
    Teumer A, Tin A, Sorice R, Gorski M, Yeo NC, Chu AY, Li M, Li Y, Mijatovic V, Ko YA, Taliun D, Luciani A, Chen MH, Yang Q, Foster MC, Olden M, Hiraki LT, Tayo BO, Fuchsberger C, Dieffenbach AK, Shuldiner AR, Smith AV, Zappa AM, Lupo A, Kollerits B, Ponte B, Stengel B, Krämer BK, Paulweber B, Mitchell BD, Hayward C, Helmer C, Meisinger C, Gieger C, Shaffer CM, Müller C, Langenberg C, Ackermann D, Siscovick D, DCCT/EDIC, Boerwinkle E, Kronenberg F, Ehret GB, Homuth G, Waeber G, Navis G, Gambaro G, Malerba G, Eiriksdottir G, Li G, Wichmann HE, Grallert H, Wallaschofski H, Völzke H, Brenner H, Kramer H, Mateo Leach I, Rudan I, Hillege HL, Beckmann JS, Lambert JC, Luan J, Zhao JH, Chalmers J, Coresh J, Denny JC, Butterbach K, Launer LJ, Ferrucci L, Kedenko L, Haun M, Metzger M, Woodward M, Hoffman MJ, Nauck M, Waldenberger M, Pruijm M, Bochud M, Rheinberger M, Verweij N, Wareham NJ, Endlich N, Soranzo N, Polasek O, van der Harst P, Pramstaller PP, Vollenweider P, Wild PS, Gansevoort RT, Rettig R, Biffar R, Carroll RJ, Katz R, Loos RJ, Hwang SJ, Coassin S, Bergmann S, Rosas SE, Stracke S, Harris TB, Corre T, Zeller T, Illig T, Aspelund T, Tanaka T, Lendeckel U, Völker U, Gudnason V, Chouraki V, Koenig W, Kutalik Z, O'Connell JR, Parsa A, Heid IM, Paterson AD, de Boer IH, Devuyst O, Lazar J, Endlich K, Susztak K, Tremblay J, Hamet P, Jacob HJ, Böger CA, Fox CS, Pattaro C, Köttgen A., Free PMC Article

    07/16/2016
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