Kontusaari S - 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. Am J Hum Genet. 1990 Jul;47(1):112-20. Am J Hum Genet. 1990. PMID: 2349939 Free PMC article.

2

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Kontusaari S, et al. Am J Hum Genet. 1992 Sep;51(3):497-507. Am J Hum Genet. 1992. PMID: 1496983 Free PMC article.

3

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: kontusaari s. 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.

4

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. J Clin Invest. 1990 Nov;86(5):1465-73. doi: 10.1172/JCI114863. J Clin Invest. 1990. PMID: 2243125 Free PMC article.

5

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: kontusaari s. J Biol Chem. 1990 Jul 15;265(20):12067-74. J Biol Chem. 1990. PMID: 2365710 Free article.

6

Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta.

Khillan JS, Olsen AS, Kontusaari S, Sokolov B, Prockop DJ. Khillan JS, et al. Among authors: kontusaari s. J Biol Chem. 1991 Dec 5;266(34):23373-9. J Biol Chem. 1991. PMID: 1744131 Free article.

7

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

Vandenberg P, Khillan JS, Prockop DJ, Helminen H, Kontusaari S, Ala-Kokko L. Vandenberg P, et al. Among authors: kontusaari s. Proc Natl Acad Sci U S A. 1991 Sep 1;88(17):7640-4. doi: 10.1073/pnas.88.17.7640. Proc Natl Acad Sci U S A. 1991. PMID: 1881905 Free PMC article.

8

Mutations in human procollagen genes. Consequences of the mutations in man and in transgenic mice.

Prockop DJ, Olsen A, Kontusaari S, Hyland J, Ala-Kokko L, Vasan NS, Barton E, Buck S, Harrison K, Brent RL. Prockop DJ, et al. Among authors: kontusaari s. Ann N Y Acad Sci. 1990;580:330-9. doi: 10.1111/j.1749-6632.1990.tb17942.x. Ann N Y Acad Sci. 1990. PMID: 2337303 No abstract available.

9

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

Ala-Kokko L, Kontusaari S, Baldwin CT, Kuivaniemi H, Prockop DJ. Ala-Kokko L, et al. Among authors: kontusaari s. Biochem J. 1989 Jun 1;260(2):509-16. doi: 10.1042/bj2600509. Biochem J. 1989. PMID: 2764886 Free PMC article.

10

Murine matrix metalloproteinase 9 gene. 5'-upstream region contains cis-acting elements for expression in osteoclasts and migrating keratinocytes in transgenic mice.

Munaut C, Salonurmi T, Kontusaari S, Reponen P, Morita T, Foidart JM, Tryggvason K. Munaut C, et al. Among authors: kontusaari s. J Biol Chem. 1999 Feb 26;274(9):5588-96. doi: 10.1074/jbc.274.9.5588. J Biol Chem. 1999. PMID: 10026175 Free article.

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