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Select item 103451601.

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

Article PDF–3.9M

Select item 62350102.

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

Article PDF–4.6M

Select item 58502073.

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

Article PDF–2.0M

Select item 44646574.

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

Article PDF–1.7M

Select item 38685845.

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

Article PDF–664K

Select item 32589326.

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

Article PDF–1.4M

Select item 24436457.

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

Article PDF–357K

Select item 17342428.

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

Select item 4084589.

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

Article PDF–410K

Select item 37006610.

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

Summary Page Browse PDF–1.9M

Select item 34701811.

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

Summary Page Browse PDF–1.3M

Select item 34501112.

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

Summary Page Browse PDF–1.0M

Select item 32937913.

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

Summary Page Browse PDF–138K

Select item 32748714.

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

Summary Page Browse PDF–2.1M

Select item 32022215.

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

Summary Page Browse PDF–1.7M

Select item 1026594616.

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

Article PDF–4.2M

Select item 940833117.

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

Article PDF–5.1M

Select item 485370418.

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

Article PDF–767K

Select item 430638519.

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

Article PDF–1.1M

Select item 314935020.

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse

Weihua Song, Emma Dyer, Daniel J. Stuckey, O'Neal Copeland, Man-Ching Leung, Christopher Bayliss, Andrew Messer, Ross Wilkinson, Jordi Lopez Tremoleda, Michael D. Schneider, Sian E. Harding, Charles S. Redwood, Kieran Clarke, Kristen Nowak, Lorenzo Monserrat, Dominic Wells, Steven B. Marston

J Biol Chem. 2011 Aug 5; 286(31): 27582–27593. Published online 2011 May 26. doi: 10.1074/jbc.M111.252320

PMCID:: PMC3149350

Article PDF–3.4M

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