The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
The human type I collagen mutation database
Open accessAbstract
Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha1(I) chains and one alpha2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html
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Cites
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
Aziz, J., Shezali, H., Radzi, Z., Yahya, N. A., Abu Kassim, N. H., Czernuszka, J., & Rahman, M. T. (2016) · Skin Pharmacology and Physiology · doi:10.1159/000447017 · Cited by 7,323
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
COLLAGENS: Molecular Biology, Diseases, and Potentials for Therapy
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Vuorio, E., & de Crombrugghe, B. (1990) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.59.070190.004201 · Cited by 513
Connective tissue and its heritable disorders : molecular, genetic, and medical aspects
Royce, P. M., & Steinmann, B. U. (1993) · Cited by 440
Engel, J., & Prockop, D. J. (1991) · Annual Review of Biophysics and Biophysical Chemistry · doi:10.1146/annurev.bb.20.060191.001033 · Cited by 319
Engel, J. (1991) · Annual Review of Biophysics and Biomolecular Structure · doi:10.1146/annurev.biophys.20.1.137 · Cited by 260
Brittle bones - fragile molecules: disorders of collagen gene structure and expression
Byers, P. H. (1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90235-x · Cited by 210
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
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta
Chu, M.-L., Williams, C. J., Pepe, G., Hirsch, J. L., Prockop, D. J., & Ramirez, F. (1983) · Nature · doi:10.1038/304078a0 · Cited by 178
Cited by
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
Aziz, J., Shezali, H., Radzi, Z., Yahya, N. A., Abu Kassim, N. H., Czernuszka, J., & Rahman, M. T. (2016) · Skin Pharmacology and Physiology · doi:10.1159/000447017 · Cited by 7,323
Ricard-Blum, S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004978 · Cited by 2,305
Collagens and collagen-related diseases
Myllyharju, J., & Kivirikko, K. I. (2001) · Annals of Medicine · doi:10.3109/07853890109002055 · Cited by 756
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
Bateman, J. F., Boot-Handford, R. P., & Lamandé, S. R. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2520 · Cited by 338
Factors Involved in the Regulation of Type I Collagen Gene Expression: Implication in Fibrosis
Ghosh, A. K. (2002) · Experimental Biology and Medicine · doi:10.1177/153537020222700502 · Cited by 259
Metadata
- Authors
- Dalgleish, R.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-01-01
- Volume
- 25
- Issue
- 1
- Pages
- 181-187
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2131950737
- Cited by
- 313
- References
- 15
- FWCI
- 4.93
- Type
- journal article
- Language
- en
- Open access
- bronze
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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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