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199 related items for PubMed ID: 11771668

  • 1. Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia.
    Gaiser KG, Maddox BK, Bann JG, Boswell BA, Keene DR, Garofalo S, Horton WA.
    J Bone Miner Res; 2002 Jan; 17(1):39-47. PubMed ID: 11771668
    [Abstract] [Full Text] [Related]

  • 2. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
    Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R.
    Dev Dyn; 2001 Oct; 222(2):141-52. PubMed ID: 11668593
    [Abstract] [Full Text] [Related]

  • 3. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
    Chen L, Yang W, Cole WG.
    J Orthop Res; 1996 Sep; 14(5):712-21. PubMed ID: 8893763
    [Abstract] [Full Text] [Related]

  • 4. Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II.
    Arita M, Fertala J, Hou C, Steplewski A, Fertala A.
    Am J Pathol; 2015 Jan; 185(1):214-29. PubMed ID: 25451152
    [Abstract] [Full Text] [Related]

  • 5. COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
    Ho MS, Tsang KY, Lo RL, Susic M, Mäkitie O, Chan TW, Ng VC, Sillence DO, Boot-Handford RP, Gibson G, Cheung KM, Cole WG, Cheah KS, Chan D.
    Hum Mol Genet; 2007 May 15; 16(10):1201-15. PubMed ID: 17403716
    [Abstract] [Full Text] [Related]

  • 6. Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly --> Cys mutation in the cartilage-specific type II collagen gene.
    Rintala M, Metsäranta M, Garofalo S, de Crombrugghe B, Vuorio E, Rönning O.
    J Craniofac Genet Dev Biol; 1993 May 15; 13(3):137-46. PubMed ID: 8227287
    [Abstract] [Full Text] [Related]

  • 7. Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen.
    Maddox BK, Garofalo S, Smith C, Keene DR, Horton WA.
    Dev Dyn; 1997 Feb 15; 208(2):170-7. PubMed ID: 9022054
    [Abstract] [Full Text] [Related]

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  • 9. Retarded skeletal development in transgenic mice with a type II collagen mutation.
    Savontaus M, Metsranta M, Vuorio E.
    Am J Pathol; 1996 Dec 15; 149(6):2169-82. PubMed ID: 8952549
    [Abstract] [Full Text] [Related]

  • 10. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
    Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT.
    J Bone Miner Res; 2003 Sep 15; 18(9):1612-21. PubMed ID: 12968670
    [Abstract] [Full Text] [Related]

  • 11. Restoration of normal bone development by human homologue of collagen type II (COL2A1) gene in Col2a1 null mice.
    Rani PU, Stringa E, Dharmavaram R, Chatterjee D, Tuan RS, Khillan JS.
    Dev Dyn; 1999 Jan 15; 214(1):26-33. PubMed ID: 9915573
    [Abstract] [Full Text] [Related]

  • 12. Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
    Chan D, Rogers JF, Bateman JF, Cole WG.
    J Rheumatol Suppl; 1995 Feb 15; 43():37-8. PubMed ID: 7752132
    [Abstract] [Full Text] [Related]

  • 13. Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes.
    Terpstra L, Prud'homme J, Arabian A, Takeda S, Karsenty G, Dedhar S, St-Arnaud R.
    J Cell Biol; 2003 Jul 07; 162(1):139-48. PubMed ID: 12835312
    [Abstract] [Full Text] [Related]

  • 14. Cartilage collagen fibril network in newborn transgenic mice analyzed by electron microscopic stereology.
    Långsjö TK, Arita M, Helminen HJ.
    Cells Tissues Organs; 2009 Jul 07; 190(4):209-18. PubMed ID: 19287128
    [Abstract] [Full Text] [Related]

  • 15. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1.
    Pace JM, Li Y, Seegmiller RE, Teuscher C, Taylor BA, Olsen BR.
    Dev Dyn; 1997 Jan 07; 208(1):25-33. PubMed ID: 8989518
    [Abstract] [Full Text] [Related]

  • 16. Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.
    Garofalo S, Vuorio E, Metsaranta M, Rosati R, Toman D, Vaughan J, Lozano G, Mayne R, Ellard J, Horton W.
    Proc Natl Acad Sci U S A; 1991 Nov 01; 88(21):9648-52. PubMed ID: 1946380
    [Abstract] [Full Text] [Related]

  • 17. Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.
    Chakkalakal SA, Heilig J, Baumann U, Paulsson M, Zaucke F.
    Int J Mol Sci; 2018 Feb 11; 19(2):. PubMed ID: 29439465
    [Abstract] [Full Text] [Related]

  • 18. A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
    Esapa CT, Hough TA, Testori S, Head RA, Crane EA, Chan CP, Evans H, Bassett JH, Tylzanowski P, McNally EG, Carr AJ, Boyde A, Howell PG, Clark A, Williams GR, Brown MA, Croucher PI, Nesbit MA, Brown SD, Cox RD, Cheeseman MT, Thakker RV.
    J Bone Miner Res; 2012 Feb 11; 27(2):413-28. PubMed ID: 22028304
    [Abstract] [Full Text] [Related]

  • 19. Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.
    Stoffel W, Jenke B, Holz B, Binczek E, Günter RH, Knifka J, Koebke J, Niehoff A.
    Am J Pathol; 2007 Jul 11; 171(1):153-61. PubMed ID: 17591962
    [Abstract] [Full Text] [Related]

  • 20. Normal long bone growth and development in type X collagen-null mice.
    Rosati R, Horan GS, Pinero GJ, Garofalo S, Keene DR, Horton WA, Vuorio E, de Crombrugghe B, Behringer RR.
    Nat Genet; 1994 Oct 11; 8(2):129-35. PubMed ID: 7842010
    [Abstract] [Full Text] [Related]

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