The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
Open accessAbstract
Stiff skin syndrome, an autosomal dominant congenital form of scleroderma, is caused by mutations in the domain of fibrillin-1 that mediates integrin binding.
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Cites
Cellular and molecular mechanisms of fibrosis
Wynn, T. (2008) · The Journal of Pathology · doi:10.1002/path.2277 · Cited by 4,495
Hinz, B. (2009) · Current Rheumatology Reports · doi:10.1007/s11926-009-0017-1 · Cited by 373
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Understanding fibrosis in systemic sclerosis: shifting paradigms, emerging opportunities
Bhattacharyya, S., Wei, J., & Varga, J. (2012) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2011.149 · Cited by 381
Cross Talk among TGF- Signaling Pathways, Integrins, and the Extracellular Matrix
Munger, J. S., & Sheppard, D. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005017 · Cited by 372
Orphan nuclear receptor NR4A1 regulates transforming growth factor-β signaling and fibrosis
Palumbo-Zerr, K., Zerr, P., Distler, A., Fliehr, J., Mancuso, R., Huang, J., Mielenz, D., Tomcik, M., Fürnrohr, B. G., Scholtysek, C., et al. (2015) · Nature Medicine · doi:10.1038/nm.3777 · Cited by 342
Transforming growth factor β—at the centre of systemic sclerosis
Lafyatis, R. (2014) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2014.137 · Cited by 332
Metadata
- Authors
- Loeys, B. L., Gerber, E. E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., McConnell, V., Chillakuri, C. R., Macaya, D., Coucke, P. J., De Paepe, A., Judge, D. P., Wigley, F., Davis, E. C., Mardon, H. J., Handford, P., Keene, D. R., Sakai, L. Y., & Dietz, H. C.
- Venue
- Science Translational Medicine
- Published
- 2010-03-17
- Volume
- 2
- Issue
- 23
- Pages
- 23ra20-23ra20
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2125733524
- Cited by
- 243
- References
- 2
- FWCI
- 11.23
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome. https://app.cochat.ai/papers/10.1126/scitranslmed.3000488
- The paper
- Loeys, B. L., Gerber, E. E., Riegert-Johnson, D., Iqbal, S., Whiteman, P., McConnell, V., Chillakuri, C. R., Macaya, D., Coucke, P. J., De Paepe, A., Judge, D. P., Wigley, F., Davis, E. C., Mardon, H. J., Handford, P., Keene, D. R., Sakai, L. Y., & Dietz, H. C. (2010). Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3000488
Data sources
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).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
