Gene Review:
ACTC1 - actin, alpha, cardiac muscle 1
Homo sapiens
Synonyms:
ACTC, ASD5, Actin, alpha cardiac muscle 1, Alpha-cardiac actin, CMD1R, ...
Orlandi,
Ciucci,
Ferlosio,
Genta,
Spagnoli,
Gabbiani,
Olson,
Doan,
Kishimoto,
Whitby,
Ackerman,
Fananapazir,
Curtis,
Blouin,
Radhakrishna,
Gehrig,
Lasseter,
Wolyniec,
Nestadt,
Dombroski,
Kazazian,
Pulver,
Housman,
Bertrand,
Antonarakis,
Mogensen,
Klausen,
Pedersen,
Egeblad,
Bross,
Kruse,
Gregersen,
Hansen,
Baandrup,
Borglum,
Pereira,
Singer,
de Meirelles,
Cunningham,
Cherry,
- Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Olson, T.M., Michels, V.V., Thibodeau, S.N., Tai, Y.S., Keating, M.T. Science (1998)
- Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Mogensen, J., Klausen, I.C., Pedersen, A.K., Egeblad, H., Bross, P., Kruse, T.A., Gregersen, N., Hansen, P.S., Baandrup, U., Borglum, A.D. J. Clin. Invest. (1999)
- Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. Olson, T.M., Doan, T.P., Kishimoto, N.Y., Whitby, F.G., Ackerman, M.J., Fananapazir, L. J. Mol. Cell. Cardiol. (2000)
- Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. Bookwalter, C.S., Trybus, K.M. J. Biol. Chem. (2006)
- In vivo system for characterizing clonal variation and tissue-specific gene regulatory factors based on function. Hardeman, E.C., Minty, A., Benton-Vosman, P., Kedes, L., Blau, H.M. J. Cell Biol. (1988)
- Chromosomal location of the co-expressed human skeletal and cardiac actin genes. Gunning, P., Ponte, P., Kedes, L., Eddy, R., Shows, T. Proc. Natl. Acad. Sci. U.S.A. (1984)
- Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction. Watkins, C., Bodfish, P., Warne, D., Nyberg, K., Spurr, N.K. Nucleic Acids Res. (1991)
- A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites. Beckmann, J.S., Tomfohrde, J., Barnes, R.I., Williams, M., Broux, O., Richard, I., Weissenbach, J., Bowcock, A.M. Hum. Mol. Genet. (1993)
- Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. Howard, H.C., Dubé, M.P., Prévost, C., Bouchard, J.P., Mathieu, J., Rouleau, G.A. Eur. J. Hum. Genet. (2002)
- Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q. Kramer, P.L., Luty, J.A., Litt, M. Genomics (1992)
- alpha-skeletal and alpha-cardiac actin genes are coexpressed in adult human skeletal muscle and heart. Gunning, P., Ponte, P., Blau, H., Kedes, L. Mol. Cell. Biol. (1983)
- Expression of phospholamban mRNA during early avian muscle morphogenesis is distinct from that of alpha-actin. Toyofuku, T., Doyle, D.D., Zak, R., Kordylewski, L. Dev. Dyn. (1993)
- Trypanosoma cruzi infection affects actin mRNA regulation in heart muscle cells. Pereira, M.C., Singer, R.H., de Meirelles, M.N. J. Eukaryot. Microbiol. (2000)
- Tumor necrosis factor inhibits human myogenesis in vitro. Miller, S.C., Ito, H., Blau, H.M., Torti, F.M. Mol. Cell. Biol. (1988)
- No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. Curtis, L., Blouin, J.L., Radhakrishna, U., Gehrig, C., Lasseter, V.K., Wolyniec, P., Nestadt, G., Dombroski, B., Kazazian, H.H., Pulver, A.E., Housman, D., Bertrand, D., Antonarakis, S.E. Am. J. Med. Genet. (1999)
- Expression of actin mutants to study their roles in cardiomyopathy. Rutkevich, L.A., Teal, D.J., Dawson, J.F. Can. J. Physiol. Pharmacol. (2006)
- A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Wang, J., Killinger, D.W., Hegele, R.A. J. Investig. Med. (1999)
- Molecular systematics of African 20-chromosome toads (Anura: Bufonidae). Cunningham, M., Cherry, M.I. Mol. Phylogenet. Evol. (2004)
- Mesenchymal stem cells from adult human bone marrow differentiate into a cardiomyocyte phenotype in vitro. Xu, W., Zhang, X., Qian, H., Zhu, W., Sun, X., Hu, J., Zhou, H., Chen, Y. Exp. Biol. Med. (Maywood) (2004)
- Cardiac myxoma cells exhibit embryonic endocardial stem cell features. Orlandi, A., Ciucci, A., Ferlosio, A., Genta, R., Spagnoli, L.G., Gabbiani, G. J. Pathol. (2006)