| 1 | ACTA1, ACTC1
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| Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
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| Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ.
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| Hum Mol Genet 22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4.
2013
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| 2 | ACTC1, ASD5
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| Alpha-cardiac actin mutations produce atrial septal defects.
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| Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, SunnegŒrdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N.
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| Hum Mol Genet 17(2):256-65. Epub 2007 Oct 18. 2008
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| 3 | ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
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| Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
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| Wessels MW, Willems PJ.
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| Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
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| 4 | ACTC1, CFMH4, CMH1, CMH11, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
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| Shared genetic causes of cardiac hypertrophy in children and adults.
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| Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
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| N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
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| 5 | ACTC1
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| Mutations in sarcomere protein genes in left ventricular noncompaction.
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| Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L.
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| Circulation 117(22):2893-901. Epub 2008 May 27.PMID: 18506004 2008
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| 6 | ACTC1, CMD1R
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| Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.
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| Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM.
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| Heart 94(11):1478-84. Epub 2008 May 8.
2008
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| 7 | ACTC1
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| The value of alpha-SMA in the evaluation of hepatic fibrosis severity in hepatitis B infection and cirrhosis development: a histopathological and immunohistochemical study.
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| Akpolat N, Yahsi S, Godekmerdan A, Yalniz M, Demirbag K.
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| Histopathology 47(3):276-80. 2005
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| 8 | ACTC1, CMD1R
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| Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.
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| Takai E, et al.
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| Am J Med Genet 86(4):325-7 1999
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| 9 | ACTC1, CMH11
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| Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
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| Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD.
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| J Clin Invest 103(10):R39-43.
1999
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| 10 | ACTC1, CMD1R
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| Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
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| Olson TM, et al.
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| Science 280 : 750-751. 1998
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| 11 | ACTC1, D15S87
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| Mapping of two chromosome 15 microsatellites.
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| Fougerousse F, et al.
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| Genomics 13 : 903-904. 1992
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| 12 | ACTC1
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| Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.
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| Kramer PL, et al.
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| Genomics 13 : 904-905. 1992
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| 13 | ACTC1
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| Localization of the cardiac actin gene (ACTC) on the linkage map of chromosome 15.
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| Kramer P, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1993. 1991
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| 14 | ACTC1
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| Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction.
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| Watkins C, et al.
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| Nucleic Acids Res 19 : 6980. 1991
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| 15 | ACTC1
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| A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.
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| Litt M, et al.
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| Am J Hum Genet 44 : 397-401. 1989
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| 16 | ACTA1, ACTC1
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| Chromosomal location of the co-expressed human skeletal and cardiac actin genes.
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| Gunning P, et al.
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| Proc Natl Acad Sci U S A 81 : 1813-1817. 1984
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