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1.	Hochman, JS, et al. (author) Baseline Characteristics and Risk Profiles of Participants in the ISCHEMIA Randomized Clinical Trial 2019 In: JAMA cardiology. - : American Medical Association (AMA). - 2380-6591 .- 2380-6583. ; 4:3, s. 273-286 Journal article (peer-reviewed)
2.	Halim, Danny, et al. (author) ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 2016 In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 25:3, s. 571-583 Journal article (peer-reviewed)abstract Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin gamma-2 (ACTG2) gene have been recently identified. To investigate the mechanism by which ACTG2 variants lead to MMIHS, we screened a cohort of eleven MMIHS patients, eight sporadic and three familial cases, and performed immunohistochemistry, molecular modeling and molecular dynamics (MD) simulations, and in vitro assays. In all sporadic cases, a heterozygous missense variant in ACTG2 was identified. ACTG2 expression was detected in all intestinal layers where smooth muscle cells are present in different stages of human development. No histopathological abnormalities were found in the patients. Using molecular modeling and MD simulations, we predicted that ACTG2 variants lead to significant changes to the protein function. This was confirmed by in vitro studies, which showed that the identified variants not only impair ACTG2 polymerization, but also contribute to reduced cell contractility. Taken together, our results confirm the involvement of ACTG2 in sporadic MMIHS, and bring new insights to MMIHS pathogenesis.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Banerjee, S. (1); Kumar, A. (1); Diaz, R. (1); Diaz, A. (1); Saba, S. (1); Alvarez, C. (1); show more...; Friedrich, M (1); Harrington, R (1); Yang, B (1); Abdelhamid, M (1); Ferreira, N (1); Cheng, G. (1); Zhang, SY (1); Held, Claes, 1956- (1); Williams, D. (1); Ali, Z (1); Dajani, K (1); Stafford, J (1); Popescu, BA (1); Maggioni, AP (1); Garg, P. (1); Nishimura, S. (1); Beltrame, JF (1); Reynolds, HR (1); Sechtem, U (1); Huber, K (1); Wong, G. (1); Jones, P (1); Zeng, QT (1); Thomas, S (1); Stone, PH (1); Kronenberg, M (1); Li, DY (1); Dahl, Niklas (1); Ramos, R (1); Berger, J. (1); Ji, Z. (1); Grant, P (1); Held, C (1); Weintraub, W. (1); Miller, T. (1); Booth, D (1); Varga, A (1); Merkely, B (1); Pinto, FJ (1); Fu, X (1); Lam, A (1); CHEN, JY (1); Keltai, M (1); Ballantyne, C. (1); show less...

University: Uppsala University (2)Undo refine; Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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