A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms-Reference-Cited by-同舟云学术

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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

Published:2024-03-15 Issue:7 Volume:32 Page:804-812
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Calderan Cristina^ORCID,Sorrentino Ugo^ORCID,Persano Luca^ORCID,Trevisson Eva^ORCID,Sartori Geppo,Salviati Leonardo^ORCID,Desbats Maria Andrea^ORCID

Funder

Institute of Pediatric Research Città della Speranza, Padua, Italy

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01591-1.pdf

Reference40 articles.

1. Pollard TD. Actin and actin-binding proteins. Cold Spring Harb Perspect Biol. 2016;8:a018226. https://doi.org/10.1101/cshperspect.a018226.

2. Perrin BJ, Ervasti JM. The actin gene family: function follows isoform. Cytoskeleton. 2010;67:630–4. https://doi.org/10.1002/cm.20475.

3. Lehman W, Morgan KG. Structure and dynamics of the actin-based smooth muscle contractile and cytoskeletal apparatus. J Muscle Res Cell Motil. 2012;33:461–9. https://doi.org/10.1007/s10974-012-9283-z.

4. Fatigati V, Murphy RA. Actin and tropomyosin variants in smooth muscles. Dependence on tissue type. J Biol Chem. 1984;259:14383–8. https://doi.org/10.1016/S0021-9258(17)42610-X.

5. Lu H, Fagnant PM, Bookwalter CS, Joel P, Trybus KM. Vascular disease-causing pathogenic variant R258C in ACTA2 disrupts actin dynamics and interaction with myosin. Proc Natl Acad Sci USA. 2015;112:E4168–77. https://doi.org/10.1073/pnas.1507587112.

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1. Hitting the heights with CiteScore;European Journal of Human Genetics;2024-07

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