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 *

117 related articles for article (PubMed ID: 10224061)

  • 1. Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    Chan D; Freddi S; Weng YM; Bateman JF
    J Biol Chem; 1999 May; 274(19):13091-7. PubMed ID: 10224061
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells.
    Chan D; Weng YM; Hocking AM; Golub S; McQuillan DJ; Bateman JF
    J Biol Chem; 1996 Jun; 271(23):13566-72. PubMed ID: 8662807
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
    Wilson R; Freddi S; Bateman JF
    J Biol Chem; 2002 Apr; 277(15):12516-24. PubMed ID: 11805116
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia.
    Chan D; Cole WG; Rogers JG; Bateman JF
    J Biol Chem; 1995 Mar; 270(9):4558-62. PubMed ID: 7876225
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.
    Bateman JF; Freddi S; McNeil R; Thompson E; Hermanns P; Savarirayan R; Lamandé SR
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
    Wilson R; Freddi S; Chan D; Cheah KS; Bateman JF
    J Biol Chem; 2005 Apr; 280(16):15544-52. PubMed ID: 15695517
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
    Chan D; Weng YM; Graham HK; Sillence DO; Bateman JF
    J Clin Invest; 1998 Apr; 101(7):1490-9. PubMed ID: 9525992
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.
    Marks DS; Gregory CA; Wallis GA; Brass A; Kadler KE; Boot-Handford RP
    J Biol Chem; 1999 Feb; 274(6):3632-41. PubMed ID: 9920912
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.
    McLaughlin SH; Conn SN; Bulleid NJ
    J Biol Chem; 1999 Mar; 274(11):7570-5. PubMed ID: 10066825
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease.
    Chan D; Ho MS; Cheah KS
    J Biol Chem; 2001 Mar; 276(11):7992-7. PubMed ID: 11115494
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
    Wallis GA; Rash B; Sykes B; Bonaventure J; Maroteaux P; Zabel B; Wynne-Davies R; Grant ME; Boot-Handford RP
    J Med Genet; 1996 Jun; 33(6):450-7. PubMed ID: 8782043
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.
    Bogin O; Kvansakul M; Rom E; Singer J; Yayon A; Hohenester E
    Structure; 2002 Feb; 10(2):165-73. PubMed ID: 11839302
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
    Sawai H; Ida A; Nakata Y; Koyama K
    J Hum Genet; 1998; 43(4):259-61. PubMed ID: 9852679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
    Ikegawa S; Nakamura K; Nagano A; Haga N; Nakamura Y
    Hum Mutat; 1997; 9(2):131-5. PubMed ID: 9067753
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.
    Wallis GA; Rash B; Sweetman WA; Thomas JT; Super M; Evans G; Grant ME; Boot-Handford RP
    Am J Hum Genet; 1994 Feb; 54(2):169-78. PubMed ID: 8304336
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
    McIntosh I; Abbott MH; Francomano CA
    Hum Mutat; 1995; 5(2):121-5. PubMed ID: 7749409
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.
    Bonaventure J; Chaminade F; Maroteaux P
    Hum Genet; 1995 Jul; 96(1):58-64. PubMed ID: 7607655
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 16(10):1201-15. PubMed ID: 17403716
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Schmid's metaphyseal chondrodysplasia mutations interfere with folding of the C-terminal domain of human collagen X expressed in Escherichia coli.
    Dublet B; Vernet T; van der Rest M
    J Biol Chem; 1999 Jul; 274(27):18909-15. PubMed ID: 10383388
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.