PubMed (OMIM) for id: 59

Year	Number of Results
1976	1
1979	1
1984	1
1990	1
1995	2
1999	1
2003	1
2004	2
2007	1
2009	2
2010	2
2011	2
2013	1
2014	2
2015	1
2016	1
2018	1
2020	1
2021	1
2024	0

1

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants.

Lauer A, Speroni SL, Patel JB, Regalado E, Choi M, Smith E, Kalpathy-Kramer J, Caruso P, Milewicz DM, Musolino PL. Lauer A, et al. Neurology. 2021 Jan 26;96(4):e538-e552. doi: 10.1212/WNL.0000000000011210. Epub 2020 Nov 16. Neurology. 2021. PMID: 33199432 Free PMC article.

2

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium; Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM. Regalado ES, et al. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300374 Free PMC article.

3

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP. Moreno CA, et al. Am J Med Genet A. 2016 Nov;170(11):2965-2974. doi: 10.1002/ajmg.a.37857. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481187 Free PMC article. Review.

4

Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW. Yetman AT, et al. Pediatrics. 2015 Jul;136(1):e262-6. doi: 10.1542/peds.2014-3032. Epub 2015 Jun 1. Pediatrics. 2015. PMID: 26034244

5

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

Brodsky MC, Turan KE, Khanna CL, Patton A, Kirmani S. Brodsky MC, et al. J AAPOS. 2014 Aug;18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3. J AAPOS. 2014. PMID: 24998021

6

Acute aortic dissections with pregnancy in women with ACTA2 mutations.

Regalado ES, Guo DC, Estrera AL, Buja LM, Milewicz DM. Regalado ES, et al. Am J Med Genet A. 2014 Jan;164A(1):106-12. doi: 10.1002/ajmg.a.36208. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243736 Free PMC article.

7

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

Hoffjan S, Waldmüller S, Blankenfeldt W, Kötting J, Gehle P, Binner P, Epplen JT, Scheffold T. Hoffjan S, et al. Eur J Hum Genet. 2011 May;19(5):520-4. doi: 10.1038/ejhg.2010.239. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248741 Free PMC article.

8

Analysis of ACTA2 in European Moyamoya disease patients.

Roder C, Peters V, Kasuya H, Nishizawa T, Wakita S, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B. Roder C, et al. Eur J Paediatr Neurol. 2011 Mar;15(2):117-22. doi: 10.1016/j.ejpn.2010.09.002. Epub 2010 Oct 20. Eur J Paediatr Neurol. 2011. PMID: 20970362

9

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. Milewicz DM, et al. Am J Med Genet A. 2010 Oct;152A(10):2437-43. doi: 10.1002/ajmg.a.33657. Am J Med Genet A. 2010. PMID: 20734336 Free PMC article.

10

ACTA2 is not a major disease-causing gene for moyamoya disease.

Shimojima K, Yamamoto T. Shimojima K, et al. J Hum Genet. 2009 Nov;54(11):687-8. doi: 10.1038/jhg.2009.91. Epub 2009 Sep 11. J Hum Genet. 2009. PMID: 19745835 No abstract available.

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