Prockop DJ - Search Results

1

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

Kontusaari S, Tromp G, Kuivaniemi H, Ladda RL, Prockop DJ. Kontusaari S, et al. Among authors: prockop dj. Am J Hum Genet. 1990 Jul;47(1):112-20. Am J Hum Genet. 1990. PMID: 2349939 Free PMC article.

2

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ. Vasan NS, et al. Among authors: prockop dj. Am J Hum Genet. 1991 Feb;48(2):305-17. Am J Hum Genet. 1991. PMID: 1990839 Free PMC article.

3

Mutations in collagen genes: causes of rare and some common diseases in humans.

Kuivaniemi H, Tromp G, Prockop DJ. Kuivaniemi H, et al. Among authors: prockop dj. FASEB J. 1991 Apr;5(7):2052-60. doi: 10.1096/fasebj.5.7.2010058. FASEB J. 1991. PMID: 2010058 Review.

4

C to T polymorphism in exon 33 of the COL3A1 gene.

Tromp G, Kleinert C, Kuivaniemi H, Prockop DJ. Tromp G, et al. Among authors: prockop dj. Nucleic Acids Res. 1991 Feb 11;19(3):681. doi: 10.1093/nar/19.3.681. Nucleic Acids Res. 1991. PMID: 2011540 Free PMC article. No abstract available.

5

G to A polymorphism in exon 31 of the COL3A1 gene.

Zafarullah K, Kleinert C, Tromp G, Kuivaniemi H, Kontusaari S, Wu YL, Ganguly A, Prockop DJ. Zafarullah K, et al. Among authors: prockop dj. Nucleic Acids Res. 1990 Oct 25;18(20):6180. doi: 10.1093/nar/18.20.6180. Nucleic Acids Res. 1990. PMID: 2235526 Free PMC article. No abstract available.

6

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ. Kontusaari S, et al. Among authors: prockop dj. J Clin Invest. 1990 Nov;86(5):1465-73. doi: 10.1172/JCI114863. J Clin Invest. 1990. PMID: 2243125 Free PMC article.

7

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

Kuivaniemi H, Kontusaari S, Tromp G, Zhao MJ, Sabol C, Prockop DJ. Kuivaniemi H, et al. Among authors: prockop dj. J Biol Chem. 1990 Jul 15;265(20):12067-74. J Biol Chem. 1990. PMID: 2365710 Free article.

8

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.

Tromp G, Kuivaniemi H, Shikata H, Prockop DJ. Tromp G, et al. Among authors: prockop dj. J Biol Chem. 1989 Jan 25;264(3):1349-52. J Biol Chem. 1989. PMID: 2492273 Free article.

9

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

Prockop DJ, Constantinou CD, Dombrowski KE, Hojima Y, Kadler KE, Kuivaniemi H, Tromp G, Vogel BE. Prockop DJ, et al. Am J Med Genet. 1989 Sep;34(1):60-7. doi: 10.1002/ajmg.1320340112. Am J Med Genet. 1989. PMID: 2683782 Review.

10

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Tromp G, et al. Among authors: prockop dj. J Biol Chem. 1989 Nov 15;264(32):19313-7. J Biol Chem. 1989. PMID: 2808425 Free article.

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