The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Osteogenesis imperfecta: translation of mutation to phenotype.
Open accessAbstract
By the end of the recently completed Fourth International Conference on Osteogenesis Imperfecta (Pavia, Italy, 9-12 September 1990) more than 70 mutations in the two genes that encode the chains of type I collagen, the major protein of bone, had been identified as the molecular cause of different forms of osteogenesis imperfecta (OI).Although by no means complete, the set of mutations in hand provides a rough guide to how to predict the phenotypic effects of mutations in type I collagen genes, predicts that certain classes of mutations will give rise to very mild phenotypes that will blend with common disorders, such as osteoporosis, and clarifies the genetic aspects of the widely used clinical classification of O.1 Clinical classification of OI For almost a century clinicians have attempted to provide a rationale by which to understand the readily apparent clinical heterogeneity in OI.The early distinction of 'congenita' forms (those with fractures at birth) from 'tarda' forms (those who develop fractures at a later period),2 followed by acknowledgment of further phenotypic variation,3 provided early guides.About a decade ago, these early classifications were largely supplanted, at least for geneticists, by the scheme developed by Sillence et all that incorporated genetic, radiographic, and phenotypic criteria.Biochemical and genetic studies have further amended and refined this classification (table).The value of the classification is often questioned because of the difficulty in deciding where
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Cites
The Metabolic Basis of Inherited Disease
(1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-112-5-389_2 · Cited by 3,983
Genetic heterogeneity in osteogenesis imperfecta.
Sillence, D. O., Senn, A., & Danks, D. M. (1979) · Journal of Medical Genetics · doi:10.1136/jmg.16.2.101 · Cited by 2,229
Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome
Barker, D. F., Hostikka, S. L., Zhou, J., Chow, L. T., Oliphant, A. R., Gerken, S. C., Gregory, M. C., Skolnick, M. H., Atkin, C. L., & Tryggvason, K. (1990) · Science · doi:10.1126/science.2349482 · Cited by 876
Mutations in collagen genes: causes of rare and some common diseases in humans
Kuivaniemi, H., Tromp, G., & Prockop, D. J. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.7.2010058 · Cited by 479
OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES
Sykes, B., Wordsworth, P., Ogilvie, D., Anderson, J., & Jones, N. (1986) · The Lancet · doi:10.1016/s0140-6736(86)91609-0 · Cited by 444
Sillence, D. O., Barlow, K. K., Cole, W. G., Dietrich, S., Garber, A. P., Rimoin, D. L., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230309 · Cited by 225
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
Pihlajaniemi, T., Dickson, L. A., Pope, F. M., Korhonen, V. R., Nicholls, A., Prockop, D. J., & Myers, J. C. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)90635-6 · Cited by 209
Cohn, D. H., Starman, B. J., Blumberg, B., & Byers, P. H. (1990) · PubMed · Cited by 166
Self-citationSykes, B. C., Ogilvie, D., Wordsworth, B. P., Wallis, G. A., Mathew, C. G., Beighton, P., Nicholls, A. C., Pope, F. M., Thompson, E. M., & Tsipouras, P. (1990) · PubMed · Cited by 145
Self-citationWeil, D., Bernard, M. P., Combates, N. J., Wirtz, M. K., Hollister, D. W., Steinmann, B. U., & Ramirez, F. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)68340-1 · Cited by 141
Cited by
Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992) · Nature Genetics · doi:10.1038/ng0692-209 · Cited by 422
Chessler, S. D., & Byers, P. H. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)46834-7 · Cited by 155
Self-citationForlino, A., Tani, C., Rossi, A., Lupi, A., Campari, E., Gualeni, B., Bianchi, L., Armini, A., Cetta, G., Bini, L., et al. (2007) · PROTEOMICS · doi:10.1002/pmic.200600919 · Cited by 54
Metadata
- Authors
- Byers, P. H., Wallis, G. A., & Willing, M. C.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1991-07
- Volume
- 28
- Issue
- 7
- Pages
- 433-442
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2053895193
- Cited by
- 326
- References
- 39
- FWCI
- 13.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Byers, P. H., Wallis, G. A., & Willing, M. C. (1991). Osteogenesis imperfecta: translation of mutation to phenotype. Journal of Medical Genetics. https://doi.org/10.1136/jmg.28.7.433
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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