Kivirikko KI - Search Results

1

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).

Körkkö J, Ritvaniemi P, Haataja L, Kääriäinen H, Kivirikko KI, Prockop DJ, Ala-Kokko L. Körkkö J, et al. Among authors: kivirikko ki. Am J Hum Genet. 1993 Jul;53(1):55-61. Am J Hum Genet. 1993. PMID: 8317498 Free PMC article.

2

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L. Ritvaniemi P, et al. Among authors: kivirikko ki. Genomics. 1993 Jul;17(1):218-21. doi: 10.1006/geno.1993.1306. Genomics. 1993. PMID: 8406454

3

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.

Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R. Hyland J, et al. Among authors: kivirikko ki. Nat Genet. 1992 Nov;2(3):228-31. doi: 10.1038/ng1192-228. Nat Genet. 1992. PMID: 1345174

4

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

Ala-Kokko L, Kvist AP, Metsäranta M, Kivirikko KI, de Crombrugghe B, Prockop DJ, Vuorio E. Ala-Kokko L, et al. Among authors: kivirikko ki. Biochem J. 1995 Jun 15;308 ( Pt 3)(Pt 3):923-9. doi: 10.1042/bj3080923. Biochem J. 1995. PMID: 8948452 Free PMC article.

5

Serum concentrations of the N-terminal propeptide of type III procollagen and two type IV collagen fragments and gene expression of the respective collagen types in liver in rats with dimethylnitrosamine-induced hepatic fibrosis.

Savolainen ER, Brocks D, Ala-Kokko L, Kivirikko KI. Savolainen ER, et al. Among authors: kivirikko ki. Biochem J. 1988 Feb 1;249(3):753-7. doi: 10.1042/bj2490753. Biochem J. 1988. PMID: 3355495 Free PMC article.

6

Expression of a human cartilage procollagen gene (COL2A1) in mouse 3T3 cells.

Ala-Kokko L, Hyland J, Smith C, Kivirikko KI, Jimenez SA, Prockop DJ. Ala-Kokko L, et al. Among authors: kivirikko ki. J Biol Chem. 1991 Aug 5;266(22):14175-8. J Biol Chem. 1991. PMID: 1860834 Free article.

7

Cloning and characterization of a third human lysyl hydroxylase isoform.

Passoja K, Rautavuoma K, Ala-Kokko L, Kosonen T, Kivirikko KI. Passoja K, et al. Among authors: kivirikko ki. Proc Natl Acad Sci U S A. 1998 Sep 1;95(18):10482-6. doi: 10.1073/pnas.95.18.10482. Proc Natl Acad Sci U S A. 1998. PMID: 9724729 Free PMC article.

8

Gene expression of type I, III and IV collagens in hepatic fibrosis induced by dimethylnitrosamine in the rat.

Ala-Kokko L, Pihlajaniemi T, Myers JC, Kivirikko KI, Savolainen ER. Ala-Kokko L, et al. Among authors: kivirikko ki. Biochem J. 1987 May 15;244(1):75-9. doi: 10.1042/bj2440075. Biochem J. 1987. PMID: 3663119 Free PMC article.

9

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllylä R. Pousi B, et al. Among authors: kivirikko ki. Am J Hum Genet. 1994 Nov;55(5):899-906. Am J Hum Genet. 1994. PMID: 7977351 Free PMC article.

10

Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.

Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllylä R. Heikkinen J, et al. Among authors: kivirikko ki. Am J Hum Genet. 1997 Jan;60(1):48-56. Am J Hum Genet. 1997. PMID: 8981946 Free PMC article.

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