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 *

120 related articles for article (PubMed ID: 7749409)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
    Warman ML; Abbott M; Apte SS; Hefferon T; McIntosh I; Cohn DH; Hecht JT; Olsen BR; Francomano CA
    Nat Genet; 1993 Sep; 5(1):79-82. PubMed ID: 8220429
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
    Pokharel RK; Alimsardjono H; Uno K; Fujii S; Shiba R; Matsuo M
    Biochem Biophys Res Commun; 1995 Dec; 217(3):1157-62. PubMed ID: 8554571
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
    McIntosh I; Abbott MH; Warman ML; Olsen BR; Francomano CA
    Hum Mol Genet; 1994 Feb; 3(2):303-7. PubMed ID: 8004099
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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; 28(11):1497-501. PubMed ID: 20872587
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.
    Stratakis CA; Orban Z; Burns AL; Vottero A; Mitsiades CS; Marx SJ; Abbassi V; Chrousos GP
    Biochem Mol Med; 1996 Dec; 59(2):112-7. PubMed ID: 8986632
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 412(13-14):1266-9. PubMed ID: 21447328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia.
    Matsui Y; Kimura T; Tsumaki N; Yasui N; Ochi T
    Jpn J Hum Genet; 1996 Sep; 41(3):339-42. PubMed ID: 8996971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y; Yasui N; Kawabata H; Ozono K; Nakata K; Mizushima T; Tsumaki N; Kataoka E; Fujita Y; Ochi T
    J Hum Genet; 2000; 45(2):105-8. PubMed ID: 10721676
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.