The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Abstract
Hereditary cutis laxa comprises a heterogeneous group of connective tissue disorders characterized by loose skin and variable systemic involvement. Autosomal dominant and recessive as well as X-linked forms have been described. Some dominant forms are caused by mutations in the elastine gene (ELN). The X-linked form is now classified in the group of copper transport diseases. The genetic defect underlying the autosomal recessive (AR) forms of cutis laxa is not known. The phenotypic abnormalities recently observed in a fibulin-5 knockout mouse model are reminiscent of human AR cutis laxa type I. Both share cutis laxa, lung emphysema and arterial involvement. Molecular study of the fibulin-5 (FBLN5) gene in a large consanguineous Turkish family with four patients affected by AR cutis laxa type I demonstrated the presence of a homozygous missense mutation (T998C) in the FBLN5 gene resulting in a serine-to-proline (S227P) substitution in the fourth calcium-binding epidermal growth factor-like domain of fibulin-5 protein. This amino acid substitution is predicted to have important structural and functional consequences for normal elastogenesis. As such, we provide evidence that a genetic defect in fibulin-5 (FBLN5, also known as EVEC or DANCE) is responsible for a recessive form of cutis laxa in humans.
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Cites
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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
Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy
Järveläinen, H., Sainio, A., Koulu, M., Wight, T. N., & Penttinen, R. (2009) · Pharmacological Reviews · doi:10.1124/pr.109.001289 · Cited by 566
Fibulins: a versatile family of extracellular matrix proteins
Timpl, R., Sasaki, T., Kostka, G., & Chu, M.-L. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1130 · Cited by 494
Lessons on the pathogenesis of aneurysm from heritable conditions
Lindsay, M. E., & Dietz, H. C. (2011) · Nature · doi:10.1038/nature10145 · Cited by 473
Elastin in Large Artery Stiffness and Hypertension
Wagenseil, J. E., & Mecham, R. P. (2012) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-012-9349-8 · Cited by 462
Metadata
- Authors
- Loeys, B.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-09-01
- Volume
- 11
- Issue
- 18
- Pages
- 2113-2118
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2150459172
- Cited by
- 317
- References
- 17
- FWCI
- 6.50
- Type
- journal article
- Language
- en
- Open access
- closed
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- Loeys, B. (2002). Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.18.2113
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