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Items: 1 to 20 of 101

1.

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ.

Proc Natl Acad Sci U S A. 1990 Sep;87(17):6565-8.

2.

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ.

Hum Genet. 1993 Nov;92(5):499-505.

PMID:
8244341
3.

Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.

Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, Menkes CJ.

J Rheumatol. 1995 Feb;22(2):255-61.

PMID:
7738948
4.

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ.

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7.

5.

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.

Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ.

N Engl J Med. 1990 Feb 22;322(8):526-30. No abstract available.

PMID:
2300123
6.

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Ritvaniemi P, Sokolov BP, Williams CJ, Considine E, Yurgenev L, Meerson EM, Ala-Kokko L, Prockop DJ.

Hum Mutat. 1994;3(3):261-7.

PMID:
8019561
7.

Clinical correlations of osteoarthritis associated with single base mutations in the type II procollagen gene.

Bleasel JF, Holderbaum D, Haqqi TM, Moskowitz RW.

J Rheumatol Suppl. 1995 Feb;43:34-6.

PMID:
7752131
9.

Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B.

Hum Mutat. 1994;4(4):257-62.

PMID:
7866404
10.

Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.

Pun YL, Moskowitz RW, Lie S, Sundstrom WR, Block SR, McEwen C, Williams HJ, Bleasel JF, Holderbaum D, Haqqi TM.

Arthritis Rheum. 1994 Feb;37(2):264-9.

PMID:
8129781
11.

Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1?

Bleasel JF, Holderbaum D, Mallock V, Haqqi TM, Williams HJ, Moskowitz RW.

J Rheumatol. 1996 Sep;23(9):1594-8.

PMID:
8877930
13.

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.

14.

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.

15.

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D.

Science. 1989 May 26;244(4907):978-80.

PMID:
2543071
16.

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ.

Am J Hum Genet. 1993 Jan;52(1):39-45. Review.

17.

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.

Winterpacht A, Hilbert K, Schwarze U, Zabel B.

Hum Genet. 1995 Apr;95(4):437-9.

PMID:
7705841
18.
20.

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

Helminen HJ, Kiraly K, Pelttari A, Tammi MI, Vandenberg P, Pereira R, Dhulipala R, Khillan JS, Ala-Kokko L, Hume EL, et al.

J Clin Invest. 1993 Aug;92(2):582-95.

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