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PubMed (GeneRIF) for id: 70

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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella IL, Bogaards SJP, Conijn SP, Ottenheijm CAC, Hwang HS, Papadaki M, Knollmann BC, Sadayappan S, Irving TC, Galkin VE, Chase PB, Pinto JR. Landim-Vieira M, et al. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2221244120. doi: 10.1073/pnas.2221244120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252999 Free PMC article.
Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.
Bednarz-Misa I, Neubauer K, Zacharska E, Kapturkiewicz B, Krzystek-Korpacka M. Bednarz-Misa I, et al. Adv Clin Exp Med. 2020 May;29(5):547-556. doi: 10.17219/acem/118845. Adv Clin Exp Med. 2020. PMID: 32424999 Free article.
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.
Frank D, Yusuf Rangrez A, Friedrich C, Dittmann S, Stallmeyer B, Yadav P, Bernt A, Schulze-Bahr E, Borlepawar A, Zimmermann WH, Peischard S, Seebohm G, Linke WA, Baba HA, Krüger M, Unger A, Usinger P, Frey N, Schulze-Bahr E. Frank D, et al. Circ Genom Precis Med. 2019 Aug;12(8):e002491. doi: 10.1161/CIRCGEN.119.002491. Epub 2019 Aug 20. Circ Genom Precis Med. 2019. PMID: 31430208 Free article.
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.
Smith JGW, Owen T, Bhagwan JR, Mosqueira D, Scott E, Mannhardt I, Patel A, Barriales-Villa R, Monserrat L, Hansen A, Eschenhagen T, Harding SE, Marston S, Denning C. Smith JGW, et al. Stem Cell Reports. 2018 Nov 13;11(5):1226-1243. doi: 10.1016/j.stemcr.2018.10.006. Epub 2018 Nov 1. Stem Cell Reports. 2018. PMID: 30392975 Free PMC article.
50 results