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Matrix Biology : Journal of the International Society for Matrix Biology|August 26, 1998
A 1,064 bp fragment from the promoter region of the Col11a2 gene drives lacZ expression not only in cartilage but also in osteoblasts adjacent to regions undergoing both endochondral and intramembranous ossification in mouse embryosS W Li, M Arita, G C Kopen, et al.Human Genetics|December 1, 1991
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large familyB P Sokolov, A N Prytkov, G Tromp, et al.Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
A recombinant homotrimer of type I procollagen that lacks the central two D-periods. The thermal stability of the triple helix is decreased by 2 to 4 degrees CK Zafarullah, A L Sieron, A Fertala, et al.The Journal of Biological Chemistry|June 25, 1991
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutationA Ganguly, C T Baldwin, D Strobel, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 1, 1993
Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapiesD J Prockop, A Colige, H Helminen, et al.The Biochemical Journal|September 1, 1989
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagensC T Baldwin, A M Reginato, C Smith, et al.The Journal of Biological Chemistry|June 25, 1983
Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfectaW J de Wet, T Pihlajaniemi, J Myers, et al.The Journal of Biological Chemistry|July 15, 1990
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 othersH Kuivaniemi, S Kontusaari, G Tromp, et al.Collagen and Related Research|October 1, 1984
Presence of translatable mRNA for pro alpha 2(I) chains in fibroblasts from a patient with osteogenesis imperfecta whose type I collagen does not contain alpha 2(I) chainsM L Chu, D Rowe, A C Nicholls, et al.Human Mutation|January 1, 1993
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IVY Wu, H Kuivaniemi, G Tromp, et al.Pageof 30