Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta

Saban, Joel; Zussman, Mark; Havey, Robert M.; Patwardhan, Avinash G.; Schneider, G; King, Donna

doi:10.1016/s8756-3282(96)00305-5

Cited by 80 publications

(61 citation statements)

References 15 publications

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“…Increased ratios of 1(I) to 2(I) protein in collagen and increased ratio of COLIA1 to COLIA2 mRNA were detected using osteoblasts cultured from the Ss heterozygotes. This is consistent with the possibility of an increased production of 1(I) 3 , which was reported by several investigators to be responsible for impaired bone strength in osteogenesis imperfecta (Deak et al 1985, Chipman et al 1993, Saban et al 1996, McBride et al 1998. Although the presence of 1(I) 3 could not be determined, in individuals carrying the s allele the study did reveal a decrease in bone strength that was independent of BMD, suggesting that decreased bone strength may be caused more by poor organic (e.g.…”

Section: Colia1 Genesupporting

confidence: 90%

Molecular studies of identification of genes for osteoporosis: the 2002 update

Liu¹,

Liu²,

Recker³

et al. 2003

Journal of Endocrinology

212

168

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We aim to give a comprehensive review, updated to 2002, of the most important and representative molecular genetic studies, performed mainly within the past decade, that aimed to identify the gene(s) involved in osteoporosis. Early reviews were largely confined to association studies in humans, but we review here, separately, the results of both association and linkage studies in humans, and quantitative trait locus (QTL) mapping in animal models. The main results of all the studies are tabulated for comparison and ease of reference, and to provide a comprehensive retrospective view of molecular genetics studies of osteoporosis. The most striking findings and the most representative studies are singled out for comment regarding the immediacy of their influence on present understanding of the genetics of osteoporosis and on the current status of genetic research in osteoporosis. This is particularly relevant for studies on the association of the vitamin D receptor (VDR) gene, for which there has been a large body of studies and reviews published. The format adopted by this review should be ideal for accommodating future new advances and studies in a fairly young field that is still developing rapidly.

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Section: Colia1 Genesupporting

confidence: 90%

Molecular studies of identification of genes for osteoporosis: the 2002 update

Liu¹,

Liu²,

Recker³

et al. 2003

Journal of Endocrinology

212

168

View full text Add to dashboard Cite

show abstract

“…Compared to the homozygous oim mice, the heterozygotes (oim/) have a less severe phenotype in terms of skeletal deformity, fracture and bone biomechanics (Dunn et al, 1995;Saban et al, 1996). As reported here, their body weight and size are close to those of wild-type mice.…”

Section: Discussionsupporting

confidence: 57%

Altered collagen structure in mouse tail tendon lacking the α2(I) chain

McBride

Choe

Shapiro

et al. 1997

Journal of Molecular Biology

106

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“…A similar phenotype has been observed in the oim/oim mouse, which has a null mutation of the COL1A2 gene and type I collagen composed entirely of [α1(I) 3 ] (32). Mice that are heterozygous for the oim mutation have a milder increase in bone fragility, however (33,34); and here, the bone collagen comprises a mixture of [α1(I) 3 ] and normal collagen α1(I) 2 α2(I). Although we have been unable to demonstrate the presence of [α1(I) 3 ] in bone derived from patients who carry the "s" allele, the biomechanical data support the hypothesis that individuals who carry the "s" allele have reduced bone strength independent of differences in BMD.…”

Section: Discussionmentioning

confidence: 81%