BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 10074491)

  • 1. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
    Hou WS; Brömme D; Zhao Y; Mehler E; Dushey C; Weinstein H; Miranda CS; Fraga C; Greig F; Carey J; Rimoin DL; Desnick RJ; Gelb BD
    J Clin Invest; 1999 Mar; 103(5):731-8. PubMed ID: 10074491
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
    Ho N; Punturieri A; Wilkin D; Szabo J; Johnson M; Whaley J; Davis J; Clark A; Weiss S; Francomano C
    J Bone Miner Res; 1999 Oct; 14(10):1649-53. PubMed ID: 10491211
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
    Haagerup A; Hertz JM; Christensen MF; Binderup H; Kruse TA
    Eur J Hum Genet; 2000 Jun; 8(6):431-6. PubMed ID: 10878663
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene.
    Gelb BD; Moissoglu K; Zhang J; Martignetti JA; Brömme D; Desnick RJ
    Biochem Mol Med; 1996 Dec; 59(2):200-6. PubMed ID: 8986645
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
    Donnarumma M; Regis S; Tappino B; Rosano C; Assereto S; Corsolini F; Di Rocco M; Filocamo M
    Hum Mutat; 2007 May; 28(5):524. PubMed ID: 17397052
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.
    Fratzl-Zelman N; Valenta A; Roschger P; Nader A; Gelb BD; Fratzl P; Klaushofer K
    J Clin Endocrinol Metab; 2004 Apr; 89(4):1538-47. PubMed ID: 15070910
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease.
    Motyckova G; Fisher DE
    Curr Mol Med; 2002 Aug; 2(5):407-21. PubMed ID: 12125807
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
    Gelb BD; Shi GP; Chapman HA; Desnick RJ
    Science; 1996 Aug; 273(5279):1236-8. PubMed ID: 8703060
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate.
    Li Z; Hou WS; Escalante-Torres CR; Gelb BD; Bromme D
    J Biol Chem; 2002 Aug; 277(32):28669-76. PubMed ID: 12039963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.
    Fujita Y; Nakata K; Yasui N; Matsui Y; Kataoka E; Hiroshima K; Shiba RI; Ochi T
    J Clin Endocrinol Metab; 2000 Jan; 85(1):425-31. PubMed ID: 10634420
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
    Roy S; Das Chakraborty S; Biswas S
    FEBS J; 2018 Nov; 285(22):4265-4280. PubMed ID: 30199612
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts.
    Everts V; Hou WS; Rialland X; Tigchelaar W; Saftig P; Brömme D; Gelb BD; Beertsen W
    Calcif Tissue Int; 2003 Oct; 73(4):380-6. PubMed ID: 12874701
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
    Naeem M; Sheikh S; Ahmad W
    BMC Med Genet; 2009 Aug; 10():76. PubMed ID: 19674475
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.
    Nishi Y; Atley L; Eyre DE; Edelson JG; Superti-Furga A; Yasuda T; Desnick RJ; Gelb BD
    J Bone Miner Res; 1999 Nov; 14(11):1902-8. PubMed ID: 10571690
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Increased Bone Resorption during Lactation in Pycnodysostosis.
    Jansen IDC; Papapoulos SE; Bravenboer N; de Vries TJ; Appelman-Dijkstra NM
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33670411
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family.
    Motyckova G; Weilbaecher KN; Horstmann M; Rieman DJ; Fisher DZ; Fisher DE
    Proc Natl Acad Sci U S A; 2001 May; 98(10):5798-803. PubMed ID: 11331755
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Erosive arthritis in a patient with pycnodysostosis: an experiment of nature.
    Ainola M; Valleala H; Nykänen P; Risteli J; Hanemaaijer R; Konttinen YT
    Arthritis Rheum; 2008 Nov; 58(11):3394-401. PubMed ID: 18975331
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
    Johnson MR; Polymeropoulos MH; Vos HL; Ortiz de Luna RI; Francomano CA
    Genome Res; 1996 Nov; 6(11):1050-5. PubMed ID: 8938428
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structure and chromosomal assignment of the human cathepsin K gene.
    Gelb BD; Shi GP; Heller M; Weremowicz S; Morton C; Desnick RJ; Chapman HA
    Genomics; 1997 Apr; 41(2):258-62. PubMed ID: 9143502
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Human cathepsin F. Molecular cloning, functional expression, tissue localization, and enzymatic characterization.
    Wang B; Shi GP; Yao PM; Li Z; Chapman HA; Brömme D
    J Biol Chem; 1998 Nov; 273(48):32000-8. PubMed ID: 9822672
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.