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Journal Abstract Search

126 related items for PubMed ID: 26545783

  • 1. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
    Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.
    Biochem Biophys Res Commun; ; 468(1-2):86-91. PubMed ID: 26545783
    [Abstract] [Full Text] [Related]

  • 2. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
    Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.
    Mamm Genome; 2011 Jun; 22(5-6):318-28. PubMed ID: 21538020
    [Abstract] [Full Text] [Related]

  • 3. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
    Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2005 Feb 15; 133A(1):61-7. PubMed ID: 15643621
    [Abstract] [Full Text] [Related]

  • 4. Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
    Okamoto T, Nagaya K, Asai H, Tsuchida E, Nohara F, Hayashi T, Yamashita A, Nishimura G, Azuma H.
    Am J Med Genet A; 2012 Aug 15; 158A(8):1953-6. PubMed ID: 22711552
    [Abstract] [Full Text] [Related]

  • 5. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
    Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
    Am J Med Genet; 1999 Jun 11; 84(5):476-80. PubMed ID: 10360402
    [Abstract] [Full Text] [Related]

  • 6. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
    Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G.
    Am J Med Genet A; 2012 Aug 11; 158A(8):1948-52. PubMed ID: 22495950
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
    Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
    J Med Genet; 2004 Jan 11; 41(1):75-9. PubMed ID: 14729840
    [No Abstract] [Full Text] [Related]

  • 9. Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
    Kung LH, Rajpar MH, Preziosi R, Briggs MD, Boot-Handford RP.
    PLoS One; 2015 Jan 11; 10(2):e0117016. PubMed ID: 25693198
    [Abstract] [Full Text] [Related]

  • 10. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
    Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR.
    Pediatr Radiol; 1998 Oct 11; 28(10):759-63. PubMed ID: 9799297
    [Abstract] [Full Text] [Related]

  • 11. Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model.
    Liang G, Lian C, Huang D, Gao W, Liang A, Peng Y, Ye W, Wu Z, Su P, Huang D.
    PLoS One; 2014 Oct 11; 9(1):e86894. PubMed ID: 24475193
    [Abstract] [Full Text] [Related]

  • 12. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
    Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J.
    Pediatr Radiol; 2003 Nov 11; 33(11):786-90. PubMed ID: 12961049
    [Abstract] [Full Text] [Related]

  • 13. Czech dysplasia metatarsal type: another type II collagen disorder.
    Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR.
    Eur J Hum Genet; 2007 Dec 11; 15(12):1269-75. PubMed ID: 17726487
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 185(1):214-29. PubMed ID: 25451152
    [Abstract] [Full Text] [Related]

  • 15. Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta.
    Scheiber AL, Guess AJ, Kaito T, Abzug JM, Enomoto-Iwamoto M, Leikin S, Iwamoto M, Otsuru S.
    Biochem Biophys Res Commun; 2019 Jan 29; 509(1):235-240. PubMed ID: 30579604
    [Abstract] [Full Text] [Related]

  • 16. PTEN deficiency causes dyschondroplasia in mice by enhanced hypoxia-inducible factor 1alpha signaling and endoplasmic reticulum stress.
    Yang G, Sun Q, Teng Y, Li F, Weng T, Yang X.
    Development; 2008 Nov 29; 135(21):3587-97. PubMed ID: 18832389
    [Abstract] [Full Text] [Related]

  • 17. 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 29; 18(9):1612-21. PubMed ID: 12968670
    [Abstract] [Full Text] [Related]

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  • 19. Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation.
    Barbieri O, Astigiano S, Morini M, Tavella S, Schito A, Corsi A, Di Martino D, Bianco P, Cancedda R, Garofalo S.
    Am J Physiol Cell Physiol; 2003 Dec 29; 285(6):C1504-12. PubMed ID: 12917109
    [Abstract] [Full Text] [Related]

  • 20. Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.
    Shung CY, Ota S, Zhou ZQ, Keene DR, Hurlin PJ.
    Hum Mol Genet; 2012 Nov 01; 21(21):4628-44. PubMed ID: 22843502
    [Abstract] [Full Text] [Related]

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