| 1 | ACTA1, NEM3
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| Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
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| Friedman B, Simpson K, Tesi-Rocha C, Zhou D, Palmer CA, Suchy SF.
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| Neuromuscul Disord 24(4):331-4. doi: 10.1016/j.nmd.2013.12.006. Epub 2013 Dec 24.
2014
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| 2 | 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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| 3 | ACTA1, NEM3
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| Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
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| Ochala J, Ravenscroft G, Laing NG, Nowak KJ.
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| PLoS One 7(9):e45923. doi: 10.1371/journal.pone.0045923. Epub 2012 Sep 20.
2012
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| 4 | ACTA1, NEM3
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| A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
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| Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG.
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| Neuromuscul Disord 21(1):31-6. Epub 2010 Sep 17.
2011
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| 5 | ACTA1, ACTM
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| Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
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| Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I.
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| Neuromuscul Disord 21(7):489-93. Epub 2011 Apr 21.
2011
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| 6 | ACTA1
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| Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
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| Feng JJ, Marston S.
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| Neuromuscul Disord 19(1):6-16. Epub 2008 Oct 30. Review.
2009
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| 7 | ACTA1, ACTM, CFTD1, NEM3
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| Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
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| Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.
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| Hum Mutat 30(9):1267-77.PMID: 19562689 2009
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| 8 | ACTA1, ACTM
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| Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.
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| Miller BM, Trybus KM.
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| J Biol Chem 283(28):19379-88. Epub 2008 May 12. 2008
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| 9 | ACTA1, PSD
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| Somatodendritic localization of EFA6A, a guanine nucleotide exchange factor for ADP-ribosylation factor 6, and its possible interaction with alpha-actinin in dendritic spines.
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| Sakagami H, Honma T, Sukegawa J, Owada Y, Yanagisawa T, Kondo H.
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| Eur J Neurosci 25(3):618-28. Epub 2007 Feb 12.
2007
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| 10 | ACTA1, NEM3
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| Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
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| Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG.
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| Ann Neurol 61(2):175-84.
2007
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| 11 | ACTA1, CFTD1
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| The pathogenesis of ACTA1-related congenital fiber type disproportion.
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| Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.
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| Ann Neurol 61(6):552-61.
2007
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| 12 | ACTA1, NEM3
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| Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
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| Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.
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| Neuromuscul Disord 16(2):113-21. Epub 2006 Jan 19. 2006
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| 13 | ACTA1, NEM3
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| Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
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| D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.
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| Neuromuscul Disord 16(9-10):548-52. Epub 2006 Sep 1.
2006
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| 14 | ACTA1, NEM3
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| Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
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| Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.
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| Neuromuscul Disord 16(9-10):541-7. Epub 2006 Sep 1.
2006
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| 15 | ACTA1, CFTD1
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| Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.
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| Sobrido MJ, Fernandez JM, Fontoira E, Perez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martinez M, Navarro C.
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| Brain 128(Pt 7):1716-27. Epub 2005 Apr 27. 2005
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| 16 | NEM3, ACTA1
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| Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
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| Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.
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| Hum Mol Genet 13(16):1727-43. Epub 2004 Jun 15. 2004
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| 17 | ACTM, ACTA1
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| Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
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| Kaindl AM, Ruschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Muller-Hocker J, Nurnberg P, Stoltenburg-Didinger G, Lochmuller H, Huebner A.
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| J Med Genet 41(11):842-8. No abstract available. 2004
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| 18 | TTN, ACTA1
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| Differential actin binding along the PEVK domain of skeletal muscle titin.
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| Nagy A, Cacciafesta P, Grama L, Kengyel A, Malnasi-Csizmadia A, Kellermayer MS.
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| J Cell Sci 117(Pt 24):5781-9. Epub 2004 Oct 26. 2004
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| 19 | ACTA1, CFTD1
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| Actin mutations are one cause of congenital fibre type disproportion.
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| Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I.
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| Ann Neurol 56(5):689-94. 2004
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| 20 | ACTA1, ACTM, NEM3
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| Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
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| Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.
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| Am J Hum Genet 68(6):1333-43. 2001
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| 21 | ACTA1, NEM3
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| Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
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| Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.
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| Neuromuscul Disord 11(1):35-40. 2001
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| 22 | ACTA1, NEM3
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| Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
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| Buxmann H, Schlosser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V.
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| Neuropediatrics 32(5):267-70. 2001
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| 23 | ACTA1, ACTM, NEM3
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| Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
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| Nowak KJ, et al.
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| Nat Genet 23(2):208-12 1999
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| 24 | ACTA1
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| Assignment of the human skeletal muscle alpha-actin gene (ACTA1) to chromosome 1q42.13->q42.2 by radiation hybrid mapping.
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| Mogensen J, et al.
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| Cytogenet Cell Genet 83 : 224-225. 1998
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| 25 | ACTM, ACTA1
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| Congenital myopathy with excess of thin myofilaments.
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| Goebel HH, et al.
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| Neuromuscul Disord 7(3):160-8 1997
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| 26 | ACTA1
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| Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation.
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| Akkari PA, et al.
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| Cytogenet Cell Genet 65 : 265-267. 1994
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| 27 | ACTA1
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| Binding sites involved in the interaction of actin with the N-terminal region of dystrophin.
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| Levine BA, Moir AJ, Patchell VB, Perry SV.
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| FEBS Lett 298(1):44-8.
1992
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| 28 | ACTA1
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| An STS in the human skeletal alpha-actin gene.
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| Freeman BC, et al.
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| Nucleic Acids Res 19 : 5086. 1991
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| 29 | ACTA1
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| Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains.
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| Taylor A, et al.
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| Genomics 3(4):323-36 1988
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| 30 | ACTA1
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| The coexpressed genes for human alpha (ACTA) and cardiac actin (ACTC)are on chromosomes 1 and 15, respectively.
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| Shows TB, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 583. 1984
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| 31 | 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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| 32 | ACTA1, ACTG2, ACTL4
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| The actin gene family in man : assignment of the gene for skeletal muscle alpha-actin to chromosome 1, and presence of actin sequences on autosomes 2 and 3, and on the X and Y chromosomes.
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| Hanauer A, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 487-488. 1984
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