The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
Open accessAbstract
Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in approximately 20% of cases. Familial TAAD is genetically heterogeneous and four loci have been mapped for this disease to date, including a locus at 16p for TAAD associated with patent ductus arteriosus (PDA). The defective gene at the 16p locus has recently been identified as the smooth muscle cell (SMC)-specific myosin heavy chain gene (MYH11). On sequencing MYH11 in 93 families with TAAD alone and three families with TAAD/PDA, we identified novel mutations in two families with TAAD/PDA, but none in families with TAAD alone. Histopathological analysis of aortic sections from two individuals with MYH11 mutations revealed SMC disarray and focal hyperplasia of SMCs in the aortic media. SMC hyperplasia leading to significant lumen narrowing in some of the vessels of the adventitia was also observed. Insulin-like growth factor-1 (IGF-1) was upregulated in mutant aortas as well as explanted SMCs, but no increase in transforming growth factor-beta expression or downstream targets was observed. Enhanced expression of angiotensin-converting enzyme and markers of Angiotensin II (Ang II) vascular inflammation (macrophage inflammatory protein-1alpha and beta) were also found. These data suggest that MYH11 mutations are likely to be specific to the phenotype of TAAD/PDA and result in a distinct aortic and occlusive vascular pathology potentially driven by IGF-1 and Ang II.
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Jones, T. A., Zou, J. Y., Cowan, S. W., & Kjeldgaard, M. (1991) · Acta Crystallographica Section A Foundations of Crystallography · doi:10.1107/s0108767390010224 · Cited by 12,648
Predicting coiled coils from protein sequences.
Lupas, A., Van Dyke, M., & Stock, J. (1991) · Science · doi:10.1126/science.252.5009.1162 · Cited by 3,953
Satisfying Hydrogen Bonding Potential in Proteins
McDonald, I. K., & Thornton, J. M. (1994) · Journal of Molecular Biology · doi:10.1006/jmbi.1994.1334 · Cited by 2,130
Three-dimensional structure of myosin subfragment-1: a molecular motor
Rayment, I., Rypniewski, W., Schmidt-Base, K., Smith, R., Tomchick, D., Benning, M., Winkelmann, D., Wesenberg, G., & Holden, H. (1993) · Science · doi:10.1126/science.8316857 · Cited by 2,070
Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, N., Sharifi, N., et al. (2005) · Nature Genetics · doi:10.1038/ng1511 · Cited by 1,795
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
Habashi, J. P., Judge, D. P., Holm, T. M., Cohn, R. D., Loeys, B. L., Cooper, T. K., Myers, L., Klein, E. C., Liu, G., Calvi, C., et al. (2006) · Science · doi:10.1126/science.1124287 · Cited by 1,794
The Way Things Move: Looking Under the Hood of Molecular Motor Proteins
Vale, R. D., & Milligan, R. A. (2000) · Science · doi:10.1126/science.288.5463.88 · Cited by 1,503
Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., & Seidman, J. G. (1990) · Cell · doi:10.1016/0092-8674(90)90274-i · Cited by 1,380
Myosin Phosphorylation and the Cross-Bridge Cycle in Arterial Smooth Muscle
Dillon, P. F., Aksoy, M. O., Driska, S. P., & Murphy, R. A. (1981) · Science · doi:10.1126/science.6893872 · Cited by 705
Zhu, L., Vranckx, R., Van Kien, P. K., Lalande, A., Boisset, N., Mathieu, F., Wegman, M., Glancy, L., Gasc, J.-M., Brunotte, F., et al. (2006) · Nature Genetics · doi:10.1038/ng1721 · Cited by 626
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
An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm
Lino Cardenas, C. L., Kessinger, C. W., Cheng, Y., MacDonald, C., MacGillivray, T., Ghoshhajra, B., Huleihel, L., Nuri, S., Yeri, A. S., Jaffer, F. A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03394-7 · Cited by 150
Metadata
- Authors
- Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., & Milewicz, D. M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-04-05
- Volume
- 16
- Issue
- 20
- Pages
- 2453-2462
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2162377106
- Cited by
- 293
- References
- 33
- FWCI
- 6.36
- Type
- journal article
- Language
- en
- Open access
- green
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- Pannu, H., Tran-Fadulu, V., Papke, C. L., Scherer, S., Liu, Y., Presley, C., Guo, D., Estrera, A. L., Safi, H. J., Brasier, A. R., Vick, G. W., Marian, A. J., Raman, C. S., Buja, L. M., & Milewicz, D. M. (2007). MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddm201
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