The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Open accessAbstract
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. This emphasizes the role of disturbed TGF-β signaling in LDS pathogenesis. Since most literature so far has focused on TGFBR1/2, we provide a comprehensive review on the known and some novel TGFB2/3 and SMAD2/3 mutations. For TGFB2 and SMAD3, the clinical manifestations, both of the patients previously described in the literature and our newly reported patients, are summarized in detail. This clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified. All mutations described here are present in the corresponding Leiden Open Variant Database.
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
SPECIFICITY AND VERSATILITY IN TGF-β SIGNALING THROUGH SMADS
Feng, X.-H., & Derynck, R. (2005) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.21.022404.142018 · Cited by 1,869
Latent TGF-β structure and activation
Shi, M., Zhu, J., Wang, R., Chen, X., Mi, L., Walz, T., & Springer, T. A. (2011) · Nature · doi:10.1038/nature10152 · Cited by 1,013
Cited by
Isselbacher, E. M., Preventza, O., Hamilton Black, J., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001106 · Cited by 2,082
Abdominal aortic aneurysm: update on pathogenesis and medical treatments
Golledge, J. (2019) · Nature Reviews Cardiology · doi:10.1038/s41569-018-0114-9 · Cited by 788
Poli, M. C., Aksentijevich, I., Bousfiha, A. A., Cunningham-Rundles, C., Hambleton, S., Klein, C., Morio, T., Picard, C., Puel, A., Rezaei, N., et al. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250003 · Cited by 341
TGFβ2 and TGFβ3 isoforms drive fibrotic disease pathogenesis
Sun, T., Huang, Z., Liang, W.-C., Yin, J., Lin, W. Y., Wu, J., Vernes, J.-M., Lutman, J., Caplazi, P., Jeet, S., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abe0407 · Cited by 134
Metadata
- Authors
- Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J., Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L., & Loeys, B.
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2018-03-06
- Volume
- 39
- Issue
- 5
- Pages
- 621-634
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2794420662
- Cited by
- 173
- References
- 3
- FWCI
- 9.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., . . . Loeys, B. (2018). A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. Human Mutation. https://doi.org/10.1002/humu.23407
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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).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
