Literature for peptidase C01.036: cathepsin K

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2018
1. Roy,S., Das Chakraborty,S. and Biswas,S.
   Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T
   FEBS J285, 4265-4280. PubMed  Europe PubMed DOI  M  S
2017
2. Song,H.K., Sohn,Y.B., Choi,Y.J., Chung,Y.S. and Jang,J.H.
   A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
   Medicine (Baltimore)96, e6367-e6367. PubMed  Europe PubMed DOI  M
2015
3. Huang,X., Qi,X., Li,M., Wang,O., Jiang,Y., Xing,X., Hu,Y.Y. and Xia,W.
   A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Chinese origin
   Calcif Tissue Int96, 373-378. PubMed  Europe PubMed DOI  M
4. Xue,Y., Wang,L., Xia,D., Li,Q., Gao,S., Dong,M., Cai,T., Shi,S., He,L., Hu,K., Mao,T. and Duan,X.
   Dental abnormalities caused by novel compound heterozygous CTSK mutations
   J Dent Res94, 674-681. PubMed  Europe PubMed DOI  M
2014
5. Arman,A., Bereket,A., Coker,A., Kiper,P.O., Guran,T., Ozkan,B., Atay,Z., Akcay,T., Halilo Lu,B., Boduro Lu,K., Alanay,Y. and Turan,S.
   Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
   Orphanet J Rare Dis9, 60-60. PubMed  Europe PubMed DOI  M
2013
6. Utokpat,P., Panmontha,W., Tongkobpetch,S., Suphapeetiporn,K. and Shotelersuk,V.
   Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis
   Pediatr Int55, 651-655. PubMed  Europe PubMed DOI  M
7. Zheng,H., Zhang,Z., He,J.W., Fu,W.Z. and Zhang,Z.L.
   A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with pyknodysostosis
   Gene521, 176-179. PubMed  Europe PubMed DOI  M
2011
8. Toral-Lopez,J., Gonzalez-Huerta,L.M., Sosa,B., Orozco,S., Gonzalez,H.P. and Cuevas-Covarrubias,S.A.
   Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)
   J Investig Med59, 277-280. PubMed  Europe PubMed DOI  M
9. Xue,Y., Cai,T., Shi,S., Wang,W., Zhang,Y., Mao,T. and Duan,X.
   Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011
   Orphanet J Rare Dis6, 20-20. PubMed  Europe PubMed DOI  M  V
2010
10. Fontanesi,L., Scotti,E., Buttazzoni,L., Dall'Olio,S., Davoli,R. and Russo,V.
    A single nucleotide polymorphism in the porcine cathepsin K (CTSK) gene is associated with back fat thickness and production traits in Italian Duroc pigs
    Mol Biol Rep37, 491-495. PubMed  Europe PubMed DOI  M
11. Khan,B., Ahmed,Z. and Ahmad,W.
    A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis
    J Investig Med58, 720-724. PubMed  Europe PubMed DOI  M
2009
12. Li,H.Y., Ma,H.W., Wang,H.Q. and Ma,W.H.
    Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis
    J Int Med Res37, 264-269. PubMed  Europe PubMed  M
2007
13. Schilling,A.F., Mulhausen,C., Lehmann,W., Santer,R., Schinke,T., Rueger,J.M. and Amling,M.
    High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K
    Osteoporos Int18, 659-669. PubMed  Europe PubMed DOI  M
2004
14. Fratzl-Zelman,N., Valenta,A., Roschger,P., Nader,A., Gelb,B.D., Fratzl,P. and Klaushofer,K.
    Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis
    J Clin Endocrinol Metab89, 1538-1547. PubMed  Europe PubMed DOI  M
2003
15. Everts,V., Hou,W.S., Rialland,X., Tigchelaar,W., Saftig,P., Bromme,D., Gelb,B.D. and Beertsen,W.
    Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts
    Calcif Tissue Int73, 380-386. PubMed  Europe PubMed DOI  M
2000
16. Fujita,Y., Nakata,K., Yasui,N., Matsui,Y., Kataoka,E., Hiroshima,K., Shiba,R.I. and Ochi,T.
    Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization
    J Clin Endocrinol Metab85, 425-431. PubMed  Europe PubMed DOI  K  M
17. Haagerup,A., Hertz,J.M., Christensen,M.F., Binderup,H. and Kruse,T.A.
    Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population
    Eur J Hum Genet8, 431-436. PubMed  Europe PubMed DOI  M
1999
18. Hou,W.S., Bromme,D., Zhao,Y., Mehler,E., Dushey,C., Weinstein,H., Miranda,C.S., Fraga,C., Greig,F., Carey,J., Rimoin,D.L., Desnick,R.J. and Gelb,B.D.
    Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
    J Clin Invest103, 731-738. PubMed  Europe PubMed DOI  M
1996
19. Gelb,B.D., Shi,G.P., Chapman,H.A. and Desnick,R.J.
    Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    Science273, 1236-1238. PubMed  Europe PubMed  M
20. Johnson,M.R., Polymeropoulos,M.H., Vos,H.L., Ortiz de Luna,R.I. and Francomano,C.A.
    A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
    Genome Res6, 1050-1055. PubMed  Europe PubMed  K  M
1995
21. Gelb,B.D., Edelson,J.G. and Desnick,R.J.
    Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping
    Nat Genet10, 235-237. PubMed  Europe PubMed DOI  M
22. Polymeropoulos,M.H., Ortiz de Luna,R.I., Ide,S.E., Torres,R., Rubenstein,J. and Francomano,C.A.
    The gene for pycnodysostosis maps to human chromosome 1cen-q21
    Nat Genet10, 238-239. PubMed  Europe PubMed DOI  M
1985
23. Everts,V., Aronson,D.C. and Beertsen,W.
    Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis
    Calcif Tissue Int37, 25-31. PubMed  Europe PubMed  M