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Whole-Exome Sequencing in Familial Parkinson Disease.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Farlow JL, et al. Among authors: kaw k. JAMA Neurol. 2016 Jan;73(1):68-75. doi: 10.1001/jamaneurol.2015.3266. JAMA Neurol. 2016. PMID: 26595808 Free PMC article.
Preventing Cholesterol-Induced Perk (Protein Kinase RNA-Like Endoplasmic Reticulum Kinase) Signaling in Smooth Muscle Cells Blocks Atherosclerotic Plaque Formation.
Chattopadhyay A, Guan P, Majumder S, Kaw K, Zhou Z, Zhang C, Prakash SK, Kaw A, Buja LM, Kwartler CS, Milewicz DM. Chattopadhyay A, et al. Among authors: kaw k. Arterioscler Thromb Vasc Biol. 2022 Aug;42(8):1005-1022. doi: 10.1161/ATVBAHA.121.317451. Epub 2022 Jun 16. Arterioscler Thromb Vasc Biol. 2022. PMID: 35708026 Free PMC article.
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. Among authors: kaw k. 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.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: kaw k. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567597 Free PMC article.
Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies.
Kaw A, Pedroza AJ, Chattopadhyay A, Pinard A, Guo D, Kaw K, Zhou Z, Shad R, Fischbein MP, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: kaw k. J Mol Cell Cardiol. 2022 Oct;171:102-104. doi: 10.1016/j.yjmcc.2022.07.004. Epub 2022 Jul 22. J Mol Cell Cardiol. 2022. PMID: 35878552 Free PMC article. No abstract available.
Augmenting Mitochondrial Respiration in Immature Smooth Muscle Cells with an ACTA2 Pathogenic Variant Mitigates Moyamoya-like Cerebrovascular Disease.
Kaw A, Wu T, Starosolski Z, Zhou Z, Pedroza AJ, Majumder S, Duan X, Kaw K, Pinelo JEE, Fischbein MP, Lorenzi PL, Tan L, Martinez SA, Mahmud I, Devkota L, Taegtmeyer H, Ghaghada KB, Marrelli SP, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: kaw k. Res Sq [Preprint]. 2023 Oct 12:rs.3.rs-3304679. doi: 10.21203/rs.3.rs-3304679/v1. Res Sq. 2023. PMID: 37886459 Free PMC article. Preprint.
15 results