These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 18205203)

  • 21. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.
    Nundlall S; Rajpar MH; Bell PA; Clowes C; Zeeff LA; Gardner B; Thornton DJ; Boot-Handford RP; Briggs MD
    Cell Stress Chaperones; 2010 Nov; 15(6):835-49. PubMed ID: 20428984
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
    Hartley CL; Edwards S; Mullan L; Bell PA; Fresquet M; Boot-Handford RP; Briggs MD
    Hum Mol Genet; 2013 Dec; 22(25):5262-75. PubMed ID: 23956175
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
    Lachman RS; Krakow D; Cohn DH; Rimoin DL
    Pediatr Radiol; 2005 Feb; 35(2):116-23. PubMed ID: 15503005
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
    Jakkula E; Lohiniva J; Capone A; Bonafe L; Marti M; Schuster V; Giedion A; Eich G; Boltshauser E; Ala-Kokko L; Superti-Furga A
    J Med Genet; 2003 Dec; 40(12):942-8. PubMed ID: 14684695
    [No Abstract]   [Full Text] [Related]  

  • 27. Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.
    Jayasuriya CT; Zhou FH; Pei M; Wang Z; Lemme NJ; Haines P; Chen Q
    Int J Mol Sci; 2014 Aug; 15(8):14555-73. PubMed ID: 25196597
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
    Leighton MP; Nundlall S; Starborg T; Meadows RS; Suleman F; Knowles L; Wagener R; Thornton DJ; Kadler KE; Boot-Handford RP; Briggs MD
    Hum Mol Genet; 2007 Jul; 16(14):1728-41. PubMed ID: 17517694
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia.
    Nakashima E; Mabuchi A; Kubota M; Ishikiriyama S; Ohashi H; Nishimura G; Ikegawa S
    Am J Med Genet A; 2005 Jan; 132A(1):108-9. PubMed ID: 15523619
    [No Abstract]   [Full Text] [Related]  

  • 31. 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]  

  • 32. Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.
    Maeda K; Nakashima E; Horikoshi T; Mabuchi A; Ikegawa S
    Am J Med Genet A; 2005 Jul; 136(3):285-6. PubMed ID: 15948199
    [No Abstract]   [Full Text] [Related]  

  • 33. A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
    Otten C; Hansen U; Talke A; Wagener R; Paulsson M; Zaucke F
    Hum Mutat; 2010 Mar; 31(3):254-63. PubMed ID: 20077500
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Matrilin-3 switches from anti- to pro-anabolic upon integration to the extracellular matrix.
    Vincourt JB; Etienne S; Grossin L; Cottet J; Bantsimba-Malanda C; Netter P; Mainard D; Libante V; Gillet P; Magdalou J
    Matrix Biol; 2012 Jun; 31(5):290-8. PubMed ID: 22521401
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
    Mabuchi A; Haga N; Ikeda T; Manabe N; Ohashi H; Takatori Y; Nakamura K; Ikegawa S
    Am J Med Genet; 2001 Nov; 104(2):135-9. PubMed ID: 11746044
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
    Mortier GR; Chapman K; Leroy JL; Briggs MD
    Eur J Hum Genet; 2001 Aug; 9(8):606-12. PubMed ID: 11528506
    [TBL] [Abstract][Full Text] [Related]  

  • 38. COL9A3: A third locus for multiple epiphyseal dysplasia.
    Paassilta P; Lohiniva J; Annunen S; Bonaventure J; Le Merrer M; Pai L; Ala-Kokko L
    Am J Hum Genet; 1999 Apr; 64(4):1036-44. PubMed ID: 10090888
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
    Kennedy J; Jackson G; Ramsden S; Taylor J; Newman W; Wright MJ; Donnai D; Elles R; Briggs MD
    Eur J Hum Genet; 2005 May; 13(5):547-55. PubMed ID: 15756302
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.