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 *

153 related articles for article (PubMed ID: 9468540)

  • 1. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
    Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR
    J Biol Chem; 1998 Feb; 273(8):4761-8. PubMed ID: 9468540
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
    Fernandes RJ; Wilkin DJ; Weis MA; Wilcox WR; Cohn DH; Rimoin DL; Eyre DR
    Arch Biochem Biophys; 1998 Jul; 355(2):282-90. PubMed ID: 9675039
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
    Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR
    Am J Hum Genet; 1994 Dec; 55(6):1128-36. PubMed ID: 7977371
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
    Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
    Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
    Mortier GR; Wilkin DJ; Wilcox WR; Rimoin DL; Lachman RS; Eyre DR; Cohn DH
    Hum Mol Genet; 1995 Feb; 4(2):285-8. PubMed ID: 7757081
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
    Bogaert R; Tiller GE; Weis MA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
    J Biol Chem; 1992 Nov; 267(31):22522-6. PubMed ID: 1429602
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
    Godfrey M; Hollister DW
    Am J Hum Genet; 1988 Dec; 43(6):904-13. PubMed ID: 3195588
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Small deletions in the type II collagen triple helix produce kniest dysplasia.
    Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH
    Am J Med Genet; 1999 Jul; 85(2):105-12. PubMed ID: 10406661
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
    Wilkin DJ; Bogaert R; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
    Hum Mol Genet; 1994 Nov; 3(11):1999-2003. PubMed ID: 7874117
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
    Tiller GE; Polumbo PA; Weis MA; Bogaert R; Lachman RS; Cohn DH; Rimoin DL; Eyre DR
    Nat Genet; 1995 Sep; 11(1):87-9. PubMed ID: 7550321
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
    Freisinger P; Ala-Kokko L; LeGuellec D; Franc S; Bouvier R; Ritvaniemi P; Prockop DJ; Bonaventure J
    J Biol Chem; 1994 May; 269(18):13663-9. PubMed ID: 8175802
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.
    Murray LW; Bautista J; James PL; Rimoin DL
    Am J Hum Genet; 1989 Jul; 45(1):5-15. PubMed ID: 2741952
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
    Winterpacht A; Hilbert M; Schwarze U; Mundlos S; Spranger J; Zabel BU
    Nat Genet; 1993 Apr; 3(4):323-6. PubMed ID: 7981752
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    Chan D; Taylor TK; Cole WG
    J Biol Chem; 1993 Jul; 268(20):15238-45. PubMed ID: 8325895
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
    Bonaventure J; Cohen-Solal L; Ritvaniemi P; Van Maldergem L; Kadhom N; Delezoide AL; Maroteaux P; Prockop DJ; Ala-Kokko L
    Biochem J; 1995 May; 307 ( Pt 3)(Pt 3):823-30. PubMed ID: 7741714
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
    Cole WG; Chiodo AA; Lamande SR; Janeczko R; Ramirez F; Dahl HH; Chan D; Bateman JF
    J Biol Chem; 1990 Oct; 265(28):17070-7. PubMed ID: 2145268
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
    Winterpacht A; Superti-Furga A; Schwarze U; Stöss H; Steinmann B; Spranger J; Zabel B
    J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Abnormality of type IX collagen in a patient with diastrophic dysplasia.
    Diab M; Wu JJ; Shapiro F; Eyre D
    Am J Med Genet; 1994 Feb; 49(4):402-9. PubMed ID: 8160734
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J; Menger H; Mundlos S; Winterpacht A; Zabel B
    Pediatr Radiol; 1994; 24(6):431-5. PubMed ID: 7700721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.