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Items: 1 to 20 of 144

1.
Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy
Mirco Müller, Antonina Joanna Mazur, Elmar Behrmann, Ralph P. Diensthuber, Michael B. Radke, Zheng Qu, Christoph Littwitz, Stefan Raunser, Cora-Ann Schoenenberger, Dietmar J. Manstein, Hans Georg Mannherz
Cell Mol Life Sci. 2012 Oct; 69(20): 3457–3479. Published online 2012 May 29. doi: 10.1007/s00018-012-1030-5
PMCID:
PMC11115188
AbstractArticlePDF–1.7M
2.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Michael Regnier, Michael J. Bamshad
HGG Adv. 2023 Jul 13; 4(3): 100213. Published online 2023 Jun 15. doi: 10.1016/j.xhgg.2023.100213
PMCID:
PMC10345160
AbstractArticlePDF–3.9M
3.
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits
James G.W. Smith, Thomas Owen, Jamie R. Bhagwan, Diogo Mosqueira, Elizabeth Scott, Ingra Mannhardt, Asha Patel, Roberto Barriales-Villa, Lorenzo Monserrat, Arne Hansen, Thomas Eschenhagen, Sian E. Harding, Steve Marston, Chris Denning
Stem Cell Reports. 2018 Nov 13; 11(5): 1226–1243. Published online 2018 Nov 1. doi: 10.1016/j.stemcr.2018.10.006
PMCID:
PMC6235010
AbstractArticlePDF–4.6M
4.
Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation
Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti
J Am Heart Assoc. 2018 Feb; 7(4): e008068. Published online 2018 Feb 10. doi: 10.1161/JAHA.117.008068
PMCID:
PMC5850207
AbstractArticlePDF–2.0M
5.
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects
Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet
PLoS One. 2015; 10(6): e0127903. Published online 2015 Jun 10. doi: 10.1371/journal.pone.0127903
PMCID:
PMC4464657
AbstractArticlePDF–1.7M
6.
Polymorphism in the Alpha Cardiac Muscle Actin 1 Gene Is Associated to Susceptibility to Chronic Inflammatory Cardiomyopathy
Amanda Farage Frade, Priscila Camilo Teixeira, Barbara Maria Ianni, Cristina Wide Pissetti, Bruno Saba, Lin Hui Tzu Wang, Andréia Kuramoto, Luciana Gabriel Nogueira, Paula Buck, Fabrício Dias, Helene Giniaux, Agnes Llored, Sthefanny Alves, Andre Schmidt, Eduardo Donadi, José Antonio Marin-Neto, Mario Hirata, Marcelo Sampaio, Abílio Fragata, Edimar Alcides Bocchi, Antonio Noedir Stolf, Alfredo Inacio Fiorelli, Ronaldo Honorato Barros Santos, Virmondes Rodrigues, Alexandre Costa Pereira, Jorge Kalil, Edecio Cunha-Neto, Christophe Chevillard
PLoS One. 2013; 8(12): e83446. Published online 2013 Dec 19. doi: 10.1371/journal.pone.0083446
PMCID:
PMC3868584
AbstractArticlePDF–664K
7.
Dual Roles of Gln137 of Actin Revealed by Recombinant Human Cardiac Muscle α-Actin Mutants
Mitsusada Iwasa, Kayo Maeda, Akihiro Narita, Yuichiro Maéda, Toshiro Oda
J Biol Chem. 2008 Jul 25; 283(30): 21045–21053. doi: 10.1074/jbc.M800570200
PMCID:
PMC3258932
AbstractArticlePDF–1.4M
8.
Functional Effects of Nemaline Myopathy Mutations on Human Skeletal α-Actin
Becky M. Miller, Kathleen M. Trybus
J Biol Chem. 2008 Jul 11; 283(28): 19379–19388. doi: 10.1074/jbc.M801963200
PMCID:
PMC2443645
AbstractArticlePDF–357K
9.
Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy
B. MAYOSI, S. KHOGALI, B. ZHANG, H. WATKINS
J Med Genet. 1999 Oct; 36(10): 796–797. doi: 10.1136/jmg.36.10.796
PMCID:
PMC1734242
Summary
10.
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Jens Mogensen, Ib C. Klausen, Anders K. Pedersen, Henrik Egeblad, Peter Bross, Torben A. Kruse, Niels Gregersen, Peter S. Hansen, Ulrik Baandrup, Anders D. Børglum
J Clin Invest. 1999 May 15; 103(10): R39–R43. doi: 10.1172/JCI6460
PMCID:
PMC408458
AbstractArticlePDF–410K
11.
alpha-skeletal and alpha-cardiac actin genes are coexpressed in adult human skeletal muscle and heart.
P Gunning, P Ponte, H Blau, L Kedes
Mol Cell Biol. 1983 Nov; 3(11): 1985–1995. doi: 10.1128/mcb.3.11.1985
PMCID:
PMC370066
SummaryPage BrowsePDF–1.9M
12.
Molecular structure and evolutionary origin of human cardiac muscle actin gene.
H Hamada, M G Petrino, T Kakunaga
Proc Natl Acad Sci U S A. 1982 Oct; 79(19): 5901–5905. doi: 10.1073/pnas.79.19.5901
PMCID:
PMC347018
SummaryPage BrowsePDF–1.3M
13.
Chromosomal location of the co-expressed human skeletal and cardiac actin genes.
P Gunning, P Ponte, L Kedes, R Eddy, T Shows
Proc Natl Acad Sci U S A. 1984 Mar; 81(6): 1813–1817. doi: 10.1073/pnas.81.6.1813
PMCID:
PMC345011
SummaryPage BrowsePDF–1.0M
14.
Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction
C. Watkins, P. Bodfish, D. Warne, K. Nyberg, N.K. Spurr
Nucleic Acids Res. 1991 Dec 25; 19(24): 6980. doi: 10.1093/nar/19.24.6980-a
PMCID:
PMC329379
SummaryPage BrowsePDF–138K
15.
There are approximately 20 actin gene in the human genome.
S E Humphries, R Whittall, A Minty, M Buckingham, R Williamson
Nucleic Acids Res. 1981 Oct 10; 9(19): 4895–4908. doi: 10.1093/nar/9.19.4895
PMCID:
PMC327487
SummaryPage BrowsePDF–2.1M
16.
Isolation and characterization of human actin genes.
J N Engel, P W Gunning, L Kedes
Proc Natl Acad Sci U S A. 1981 Aug; 78(8): 4674–4678. doi: 10.1073/pnas.78.8.4674
PMCID:
PMC320222
SummaryPage BrowsePDF–1.7M
17.
Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function
Maicon Landim-Vieira, Weikang Ma, Taejeong Song, Hosna Rastegarpouyani, Henry Gong, Isabella Leite Coscarella, Sylvia J. P. Bogaards, Stefan P. Conijn, Coen A. C. Ottenheijm, Hyun S. Hwang, Maria Papadaki, Bjorn C. Knollmann, Sakthivel Sadayappan, Thomas C. Irving, Vitold E. Galkin, P. Bryant Chase, Jose Renato Pinto
Proc Natl Acad Sci U S A. 2023 Jun 6; 120(23): e2221244120. Published online 2023 May 30. doi: 10.1073/pnas.2221244120
PMCID:
PMC10265946
AbstractArticlePDF–4.2M
18.
Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population
Nadeem Ul Nazeer, Mohammad Akbar Bhat, Bilal Rah, Gh Rasool Bhat, Shadil Ibrahim Wani, Adfar Yousuf, Abdul Majeed Dar, Dil Afroze
Int J Environ Res Public Health. 2022 Aug; 19(16): 9884. Published online 2022 Aug 11. doi: 10.3390/ijerph19169884
PMCID:
PMC9408331
AbstractArticlePDF–5.1M
19.
A gain-of-function ACTC1 3′UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect
Ye Wang, Xinwei Du, Zaiwei Zhou, Jun Jiang, Zhen Zhang, Lincai Ye, Haifa Hong
Sci Rep. 2016; 6: 25404. Published online 2016 May 3. doi: 10.1038/srep25404
PMCID:
PMC4853704
AbstractArticlePDF–767K
20.
ALTERED INTERACTIONS BETWEEN CARDIAC MYOSIN BINDING PROTEIN-C AND α-CARDIAC ACTIN VARIANTS ASSOCIATED WITH CARDIOMYOPATHIES
Melissa L. Chow, Justin F. Shaffer, Samantha P. Harris, John F. Dawson
Arch Biochem Biophys. Author manuscript; available in PMC 2015 May 15.
Published in final edited form as: Arch Biochem Biophys. 2014 May 15; 0: 28–32. Published online 2014 Apr 13. doi: 10.1016/j.abb.2014.04.003
PMCID:
PMC4306385
AbstractArticlePDF–1.1M

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