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Year Number of Results
1993 1
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2019 5
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2021 5
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33 results

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Page 1
Calcium channel blockers increase the risk of aortic aneurysm and dissection.
Ma T, Cai Z, Xu X, Cao L, Wang A, Zhang Z, Zhang S, Huang Z, Luo J, Lin S, Ge J, Wang X, Fu Y, Yu F, Zhou J, Wang L, Zhang H, Gao X, Guo W, Kong W. Ma T, et al. Nat Commun. 2025 Dec 25;17(1):1334. doi: 10.1038/s41467-025-68086-5. Nat Commun. 2025. PMID: 41444229 Free PMC article.
Aortic aneurysm and dissection (AAD) are life-threatening conditions without effective medications. ...Moreover, silencing of protein kinase cGMP-dependent 1 (PRKG1) significantly mitigated CCB-aggravated AAD progression. These findings suggest that CCBs may increas …
Aortic aneurysm and dissection (AAD) are life-threatening conditions without effective medications. ...Moreover, silencing of protein …
The NO signalling pathway in aortic aneurysm and dissection.
Toral M, de la Fuente-Alonso A, Campanero MR, Redondo JM. Toral M, et al. Br J Pharmacol. 2022 Apr;179(7):1287-1303. doi: 10.1111/bph.15694. Epub 2021 Nov 3. Br J Pharmacol. 2022. PMID: 34599830 Free article. Review.
Recent studies have shown that NO is a central mediator in diseases associated with thoracic aortic aneurysm, such as Marfan syndrome. The progressive dilation of the aorta in thoracic aortic aneurysm ultimately leads to aortic dissection. ...There is therefore a pr …
Recent studies have shown that NO is a central mediator in diseases associated with thoracic aortic aneurysm, such as Marfan syndrome …
Heritable Thoracic Aortic Disease Overview.
Milewicz DM, Cecchi AC. Milewicz DM, et al. 2003 Feb 13 [updated 2023 May 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2003 Feb 13 [updated 2023 May 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301299 Free Books & Documents. Review.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
These CNVs were four intragenic (multi-)exon deletions in MYLK, TGFB2, SMAD3, and PRKG1, respectively. In addition, a large duplication including NOTCH1 and a large deletion encompassing SCARF2 were detected. ...
These CNVs were four intragenic (multi-)exon deletions in MYLK, TGFB2, SMAD3, and PRKG1, respectively. In addition, a large duplicati …
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.
However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thoracic aortic aneurysm has been established, and gene discovery in affected families has identified several major categories of gene alt …
However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thora …
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM. Regalado ES, et al. J Am Coll Cardiol. 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. J Am Coll Cardiol. 2022. PMID: 36007983 Free article.
OBJECTIVES: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene. ...Cumulative incidence of type A aortic dissection was higher than electi …
OBJECTIVES: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic d …
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.
de la Fuente-Alonso A, Toral M, Alfayate A, Ruiz-Rodríguez MJ, Bonzón-Kulichenko E, Teixido-Tura G, Martínez-Martínez S, Méndez-Olivares MJ, López-Maderuelo D, González-Valdés I, Garcia-Izquierdo E, Mingo S, Martín CE, Muiño-Mosquera L, De Backer J, Nistal JF, Forteza A, Evangelista A, Vázquez J, Campanero MR, Redondo JM. de la Fuente-Alonso A, et al. Nat Commun. 2021 May 11;12(1):2628. doi: 10.1038/s41467-021-22933-3. Nat Commun. 2021. PMID: 33976159 Free PMC article.
Thoracic aortic aneurysm, as occurs in Marfan syndrome, is generally asymptomatic until dissection or rupture, requiring surgical intervention as the only available treatment. ...Marfan aortopathy in mice is reverted by pharmacological inhibition of soluble guanylate cycla …
Thoracic aortic aneurysm, as occurs in Marfan syndrome, is generally asymptomatic until dissection or rupture, requiring surgical int …
The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
Shalhub S, Regalado ES, Guo DC, Milewicz DM; Montalcino Aortic Consortium. Shalhub S, et al. J Vasc Surg. 2019 Sep;70(3):718-723. doi: 10.1016/j.jvs.2018.12.032. Epub 2019 Mar 11. J Vasc Surg. 2019. PMID: 30871887 Free article.
OBJECTIVE: The c.530G>A (p.Arg177Gln) mutation in PRKG1 has been shown to be associated with thoracic aortic aneurysms and dissections. ...Once diagnosed, testing of first-degree family members is warranted. In all individuals with a PRKG1 mutation, close …
OBJECTIVE: The c.530G>A (p.Arg177Gln) mutation in PRKG1 has been shown to be associated with thoracic aortic aneurysms and …
Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection.
Zhang W, Han Q, Liu Z, Zhou W, Cao Q, Zhou W. Zhang W, et al. BMC Med Genet. 2018 Dec 22;19(1):218. doi: 10.1186/s12881-018-0735-1. BMC Med Genet. 2018. PMID: 30577811 Free PMC article.
To our knowledge, this is the second reported mutation locus of PRKG1 accounting for the disease. CONCLUSIONS: Our study expands the mutation spectrum of PRKG1 and clinical phenotype of mutation-carriers. Screening for PRKG1 mutations should be considered in …
To our knowledge, this is the second reported mutation locus of PRKG1 accounting for the disease. CONCLUSIONS: Our study expands the …
Managing the aorta in patients with a PRKG1 mutation.
Norton EL, Gordon D, Yang B. Norton EL, et al. J Thorac Cardiovasc Surg. 2019 Apr;157(4):e107-e109. doi: 10.1016/j.jtcvs.2018.09.097. Epub 2018 Oct 10. J Thorac Cardiovasc Surg. 2019. PMID: 30415903 Free PMC article. No abstract available.
33 results