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Items: 1 to 20 of 116

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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 1;307 ( Pt 3):823-30.

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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.

10.

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 15;355(2):282-90.

PMID:
9675039
11.

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Horton WA, Machado MA, Ellard J, Campbell D, Bartley J, Ramirez F, Vitale E, Lee B.

Proc Natl Acad Sci U S A. 1992 May 15;89(10):4583-7.

12.

A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.

Vikkula M, Ritvaniemi P, Vuorio AF, Kaitila I, Ala-Kokko L, Peltonen L.

Genomics. 1993 Apr;16(1):282-5.

PMID:
8486375
13.

Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice.

Maddox BK, Garofalo S, Keene DR, Smith C, Horton WA.

Matrix Biol. 1997 Aug;16(3):93-103.

PMID:
9314159
16.

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.

17.

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 6;269(18):13663-9.

18.

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.

J Med Genet. 2000 Apr;37(4):263-71.

19.

Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse.

Fernandes RJ, Seegmiller RE, Nelson WR, Eyre DR.

Matrix Biol. 2003 Sep;22(5):449-53.

PMID:
14614991
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