BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 24312420)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
    Briggs MD; Brock J; Ramsden SC; Bell PA
    Eur J Hum Genet; 2014 Nov; 22(11):1278-82. PubMed ID: 24595329
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
    Liang H; Hou Y; Pang Q; Jiang Y; Wang O; Li M; Xing X; Zhu H; Xia W
    Calcif Tissue Int; 2022 Mar; 110(3):313-323. PubMed ID: 34709441
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
    El-Lababidi N; Zikánová M; Baxová A; Nosková L; Leiská A; Lambert L; Honzík T; Zeman J
    Prague Med Rep; 2020; 121(3):153-162. PubMed ID: 33030144
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
    Kennedy J; Jackson GC; Barker FS; Nundlall S; Bella J; Wright MJ; Mortier GR; Neas K; Thompson E; Elles R; Briggs MD
    Hum Mutat; 2005 Jun; 25(6):593-4. PubMed ID: 15880723
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.
    Merritt TM; Bick R; Poindexter BJ; Alcorn JL; Hecht JT
    Am J Pathol; 2007 Jan; 170(1):293-300. PubMed ID: 17200202
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Song HR; Lee KS; Li QW; Koo SK; Jung SC
    J Hum Genet; 2003; 48(5):222-225. PubMed ID: 12768438
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
    Jacob P; Bhavani GSL; Shah H; Galada C; Nampoothiri S; Kamath N; Phadke SR; Muranjan M; Datar CA; Shukla A; Girisha KM
    Am J Med Genet A; 2022 Mar; 188(3):751-759. PubMed ID: 34750995
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Mabuchi A; Manabe N; Haga N; Kitoh H; Ikeda T; Kawaji H; Tamai K; Hamada J; Nakamura S; Brunetti-Pierri N; Kimizuka M; Takatori Y; Nakamura K; Nishimura G; Ohashi H; Ikegawa S
    Hum Genet; 2003 Jan; 112(1):84-90. PubMed ID: 12483304
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.