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Resistance of Acta2R149C/+ mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex.
Chen J, Kaw K, Lu H, Fagnant PM, Chattopadhyay A, Duan XY, Zhou Z, Ma S, Liu Z, Huang J, Kamm K, Stull JT, Kwartler CS, Trybus KM, Milewicz DM. Chen J, et al. J Biol Chem. 2021 Dec;297(6):101228. doi: 10.1016/j.jbc.2021.101228. Epub 2021 Oct 1. J Biol Chem. 2021. PMID: 34600884 Free PMC article.
Actin R256 Mono-methylation Is a Conserved Post-translational Modification Involved in Transcription.
Kumar A, Zhong Y, Albrecht A, Sang PB, Maples A, Liu Z, Vinayachandran V, Reja R, Lee CF, Kumar A, Chen J, Xiao J, Park B, Shen J, Liu B, Person MD, Trybus KM, Zhang KYJ, Pugh BF, Kamm KE, Milewicz DM, Shen X, Kapoor P. Kumar A, et al. Cell Rep. 2020 Sep 29;32(13):108172. doi: 10.1016/j.celrep.2020.108172. Cell Rep. 2020. PMID: 32997990 Free PMC article.
Grange syndrome due to homozygous YY1AP1 missense rare variants.
Ciuffetelli Alamo IV, Kwartler CS, Regalado ER, Afifi RO, Parkash S, Rideout A, Guo DC, Milewicz DM. Ciuffetelli Alamo IV, et al. Am J Med Genet A. 2019 Dec;179(12):2500-2505. doi: 10.1002/ajmg.a.61379. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633303
Genetics of Thoracic and Abdominal Aortic Diseases.
Pinard A, Jones GT, Milewicz DM. Pinard A, et al. Circ Res. 2019 Feb 15;124(4):588-606. doi: 10.1161/CIRCRESAHA.118.312436. Circ Res. 2019. PMID: 30763214 Free PMC article. Review.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. Hostetler EM, et al. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. J Med Genet. 2019. PMID: 30661052
67 results