BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 19808781)

  • 1. A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Piróg KA; Jaka O; Katakura Y; Meadows RS; Kadler KE; Boot-Handford RP; Briggs MD
    Hum Mol Genet; 2010 Jan; 19(1):52-64. PubMed ID: 19808781
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.
    Piróg KA; Katakura Y; Mironov A; Briggs MD
    PLoS One; 2013; 8(11):e82412. PubMed ID: 24312420
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes.
    Hecht JT; Hayes E; Snuggs M; Decker G; Montufar-Solis D; Doege K; Mwalle F; Poole R; Stevens J; Duke PJ
    Matrix Biol; 2001 Jul; 20(4):251-62. PubMed ID: 11470401
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cartilage oligomeric matrix protein-deficient mice have normal skeletal development.
    Svensson L; Aszódi A; Heinegård D; Hunziker EB; Reinholt FP; Fässler R; Oldberg A
    Mol Cell Biol; 2002 Jun; 22(12):4366-71. PubMed ID: 12024046
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.
    Piróg-Garcia KA; Meadows RS; Knowles L; Heinegård D; Thornton DJ; Kadler KE; Boot-Handford RP; Briggs MD
    Hum Mol Genet; 2007 Sep; 16(17):2072-88. PubMed ID: 17588960
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.
    Posey KL; Veerisetty AC; Liu P; Wang HR; Poindexter BJ; Bick R; Alcorn JL; Hecht JT
    Am J Pathol; 2009 Oct; 175(4):1555-63. PubMed ID: 19762713
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
    Jackson GC; Mittaz-Crettol L; Taylor JA; Mortier GR; Spranger J; Zabel B; Le Merrer M; Cormier-Daire V; Hall CM; Offiah A; Wright MJ; Savarirayan R; Nishimura G; Ramsden SC; Elles R; Bonafe L; Superti-Furga A; Unger S; Zankl A; Briggs MD
    Hum Mutat; 2012 Jan; 33(1):144-57. PubMed ID: 21922596
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Deere M; Sanford T; Francomano CA; Daniels K; Hecht JT
    Am J Med Genet; 1999 Aug; 85(5):486-90. PubMed ID: 10405447
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
    Unger S; Hecht JT
    Am J Med Genet; 2001; 106(4):244-50. PubMed ID: 11891674
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
    Briggs MD; Mortier GR; Cole WG; King LM; Golik SS; Bonaventure J; Nuytinck L; De Paepe A; Leroy JG; Biesecker L; Lipson M; Wilcox WR; Lachman RS; Rimoin DL; Knowlton RG; Cohn DH
    Am J Hum Genet; 1998 Feb; 62(2):311-9. PubMed ID: 9463320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
    Thur J; Rosenberg K; Nitsche DP; Pihlajamaa T; Ala-Kokko L; Heinegård D; Paulsson M; Maurer P
    J Biol Chem; 2001 Mar; 276(9):6083-92. PubMed ID: 11084047
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
    Mabuchi A; Momohara S; Ohashi H; Takatori Y; Haga N; Nishimura G; Ikegawa S
    Am J Med Genet A; 2004 Aug; 129A(1):35-8. PubMed ID: 15266613
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
    Suleman F; Gualeni B; Gregson HJ; Leighton MP; Piróg KA; Edwards S; Holden P; Boot-Handford RP; Briggs MD
    Hum Mutat; 2012 Jan; 33(1):218-31. PubMed ID: 22006726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.
    Hecht JT; Montufar-Solis D; Decker G; Lawler J; Daniels K; Duke PJ
    Matrix Biol; 1998 Dec; 17(8-9):625-33. PubMed ID: 9923655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Ikegawa S; Ohashi H; Nishimura G; Kim KC; Sannohe A; Kimizuka M; Fukushima Y; Nagai T; Nakamura Y
    Hum Genet; 1998 Dec; 103(6):633-8. PubMed ID: 9921895
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia.
    Vranka J; Mokashi A; Keene DR; Tufa S; Corson G; Sussman M; Horton WA; Maddox K; Sakai L; Bächinger HP
    Matrix Biol; 2001 Nov; 20(7):439-50. PubMed ID: 11691584
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
    Briggs MD; Bell PA; Pirog KA
    Int J Mol Med; 2015 Jun; 35(6):1483-92. PubMed ID: 25824717
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
    Délot E; King LM; Briggs MD; Wilcox WR; Cohn DH
    Hum Mol Genet; 1999 Jan; 8(1):123-8. PubMed ID: 9887340
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
    Roman-Blas J; Dion AS; Seghatoleslami MR; Giunta K; Oca P; Jimenez SA; Williams CJ
    J Cell Physiol; 2010 Sep; 224(3):817-26. PubMed ID: 20578249
    [TBL] [Abstract][Full Text] [Related]  

  • 20. COMP mutations, chondrocyte function and cartilage matrix.
    Hecht JT; Hayes E; Haynes R; Cole WG
    Matrix Biol; 2005 Jan; 23(8):525-33. PubMed ID: 15694129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.