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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

159 related items for PubMed ID: 30010889

  • 1. Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
    Forouhan M, Sonntag S, Boot-Handford RP.
    Hum Mol Genet; 2018 Nov 15; 27(22):3840-3853. PubMed ID: 30010889
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
    Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q.
    BMC Med Genet; 2019 Dec 19; 20(1):200. PubMed ID: 31856751
    [Abstract] [Full Text] [Related]

  • 6. Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
    Mäkitie O, Susic M, Cole WG.
    J Orthop Res; 2010 Nov 19; 28(11):1497-501. PubMed ID: 20872587
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease.
    Cameron TL, Bell KM, Gresshoff IL, Sampurno L, Mullan L, Ermann J, Glimcher LH, Boot-Handford RP, Bateman JF.
    PLoS Genet; 2015 Sep 19; 11(9):e1005505. PubMed ID: 26372225
    [Abstract] [Full Text] [Related]

  • 9. Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.
    Kung LH, Rajpar MH, Briggs MD, Boot-Handford RP.
    J Histochem Cytochem; 2012 Oct 19; 60(10):734-48. PubMed ID: 22859705
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R.
    Hum Mutat; 2005 Jun 19; 25(6):525-34. PubMed ID: 15880705
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 19; 86(2):183-185. PubMed ID: 30209734
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.
    Tan WH, Rücklin M, Larionova D, Ngoc TB, Joan van Heuven B, Marone F, Matsudaira P, Winkler C.
    iScience; 2024 Apr 19; 27(4):109405. PubMed ID: 38510140
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
    Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X.
    Clin Chim Acta; 2011 Jun 11; 412(13-14):1266-9. PubMed ID: 21447328
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.