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2006 2
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Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Velchev JD, et al. Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. Adv Exp Med Biol. 2021. PMID: 34807423
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history …
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most ty …
Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm.
Oller J, Gabandé-Rodríguez E, Ruiz-Rodríguez MJ, Desdín-Micó G, Aranda JF, Rodrigues-Diez R, Ballesteros-Martínez C, Blanco EM, Roldan-Montero R, Acuña P, Forteza Gil A, Martín-López CE, Nistal JF, Lino Cardenas CL, Lindsay ME, Martín-Ventura JL, Briones AM, Redondo JM, Mittelbrunn M. Oller J, et al. Circulation. 2021 May 25;143(21):2091-2109. doi: 10.1161/CIRCULATIONAHA.120.051171. Epub 2021 Mar 12. Circulation. 2021. PMID: 33709773 Free PMC article.
The major complication of this connective disorder is the risk to develop thoracic aortic aneurysm. To date, no effective pharmacologic therapies have been identified for the management of thoracic aortic disease and the only options capable of …
The major complication of this connective disorder is the risk to develop thoracic aortic aneurysm. To date, no effecti …
Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.
Isselbacher EM, Lino Cardenas CL, Lindsay ME. Isselbacher EM, et al. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762. Circulation. 2016. PMID: 27297344 Free PMC article. Review.
Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic dissection or rupture. However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite li …
Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic …
Genetic basis of hereditary thoracic aortic aneurysms and dissections.
Takeda N, Komuro I. Takeda N, et al. J Cardiol. 2019 Aug;74(2):136-143. doi: 10.1016/j.jjcc.2019.03.014. Epub 2019 Apr 15. J Cardiol. 2019. PMID: 31000321 Free article. Review.
Recent advances in DNA sequencing technology have identified several causative genes for hereditary thoracic aortic aneurysms and dissections (TAADs), including Marfan syndrome (MFS), Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial non-syn …
Recent advances in DNA sequencing technology have identified several causative genes for hereditary thoracic aortic ane …
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T, Noguchi T, Asano Y, Ida K, Ogata S, Nishimura K, Matsuda H. Yagyu T, et al. J Am Heart Assoc. 2023 Apr 18;12(8):e028625. doi: 10.1161/JAHA.122.028625. Epub 2023 Apr 12. J Am Heart Assoc. 2023. PMID: 37042257 Free PMC article.
Background Differences in the clinical course of heritable thoracic aortic disease based on the disease-causing gene have not been fully evaluated. To clarify the clinical relevance of causative genes in heritable thoracic aortic disease, …
Background Differences in the clinical course of heritable thoracic aortic disease based on the disease-causing gene ha …
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Shalata A, Mahroom M, Milewicz DM, Limin G, Kassum F, Badarna K, Tarabeih N, Assy N, Fell R, Cohen H, Nashashibi M, Livoff A, Azab M, Habib G, Geiger D, Weissbrod O, Nseir W. Shalata A, et al. Orphanet J Rare Dis. 2018 Mar 15;13(1):41. doi: 10.1186/s13023-018-0769-7. Orphanet J Rare Dis. 2018. PMID: 29544503 Free PMC article.
BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. ...RESULTS: Herein, we inform on the clinical, genetic and pathological characteristics of nine living and deceased members of a large consanguineous A …
BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. ...RESULTS: …
Multi-Omics of Familial Thoracic Aortic Aneurysm and Dissection: Calcium Transport Impairment Predisposes Aortas to Dissection.
Tomida S, Ishima T, Sawaki D, Imai Y, Nagai R, Aizawa K. Tomida S, et al. Int J Mol Sci. 2023 Oct 16;24(20):15213. doi: 10.3390/ijms242015213. Int J Mol Sci. 2023. PMID: 37894894 Free PMC article.
Several genetic defects, including a mutation in myosin heavy chain 11 (Myh11), are reported to cause familial thoracic aortic aneurysm and dissection (FTAAD). We recently showed that mice lacking K1256 of Myh11 developed aortic dissectio …
Several genetic defects, including a mutation in myosin heavy chain 11 (Myh11), are reported to cause familial thoracic aor …
Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Zhang P, Zhang E, Fan J, Gu J. Zhang P, et al. Front Biosci (Landmark Ed). 2013 Jan 1;18(1):305-11. doi: 10.2741/4101. Front Biosci (Landmark Ed). 2013. PMID: 23276923 Free article. Review.
Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. ...Researchers are scanning the human genome to characterize the genetic determinants of TAADs by identifying chromosomal regions, gene mutati …
Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. ...Resear …
Heritable thoracic aortic disorders.
Pyeritz RE. Pyeritz RE. Curr Opin Cardiol. 2014 Jan;29(1):97-102. doi: 10.1097/HCO.0000000000000023. Curr Opin Cardiol. 2014. PMID: 24284977 Review.
This article deals with aortic disease due to mutations in specific genes. The conditions can affect tissues and organs other than the aorta (syndromic) or be limited to the aorta (nonsyndromic). RECENT FINDINGS: A classification scheme based on the gene is e …
This article deals with aortic disease due to mutations in specific genes. The conditions can affect tissues and organs other …
Stable thyroid cancer in a patient with thoracic aortic aneurysm and MYH11 variation.
Fatourechi V, Swanson AA, Lee RA. Fatourechi V, et al. Endocrinol Diabetes Metab Case Rep. 2024 Jan 8;2024(1):23-0088. doi: 10.1530/EDM-23-0088. Print 2024 Jan 1. Endocrinol Diabetes Metab Case Rep. 2024. PMID: 38189791 Free PMC article.
SUMMARY: We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and dissection, and a variation in the MYH11 gene. ...If locoregional stability of papillary thyroid cancer is documented for many yea …
SUMMARY: We report the case of a male patient with papillary thyroid cancer, familial thoracic aortic aneurysm and diss …
54 results