Citations for
1ACTA1, NEM3
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
Friedman B, Simpson K, Tesi-Rocha C, Zhou D, Palmer CA, Suchy SF.
Neuromuscul Disord 24(4):331-4. doi: 10.1016/j.nmd.2013.12.006. Epub 2013 Dec 24. 2014
2ACTA1, ACTC1
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
Ravenscroft G, McNamara E, Griffiths LM, Papadimitriou JM, Hardeman EC, Bakker AJ, Davies KE, Laing NG, Nowak KJ.
Hum Mol Genet 22(19):3987-97. doi: 10.1093/hmg/ddt252. Epub 2013 Jun 4. 2013
3ACTA1, NEM3
Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
Ochala J, Ravenscroft G, Laing NG, Nowak KJ.
PLoS One 7(9):e45923. doi: 10.1371/journal.pone.0045923. Epub 2012 Sep 20. 2012
4ACTA1, NEM3
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG.
Neuromuscul Disord 21(1):31-6. Epub 2010 Sep 17. 2011
5ACTA1, ACTM
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
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.
Neuromuscul Disord 21(7):489-93. Epub 2011 Apr 21. 2011
6ACTA1
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ, Marston S.
Neuromuscul Disord 19(1):6-16. Epub 2008 Oct 30. Review. 2009
7ACTA1, ACTM, CFTD1, NEM3
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, LochmŘller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.
Hum Mutat 30(9):1267-77.PMID: 19562689 2009
8ACTA1, ACTM
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.
Miller BM, Trybus KM.
J Biol Chem 283(28):19379-88. Epub 2008 May 12. 2008
9ACTA1, PSD
Somatodendritic localization of EFA6A, a guanine nucleotide exchange factor for ADP-ribosylation factor 6, and its possible interaction with alpha-actinin in dendritic spines.
Sakagami H, Honma T, Sukegawa J, Owada Y, Yanagisawa T, Kondo H.
Eur J Neurosci 25(3):618-28. Epub 2007 Feb 12. 2007
10ACTA1, NEM3
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
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.
Ann Neurol 61(2):175-84. 2007
11ACTA1, CFTD1
The pathogenesis of ACTA1-related congenital fiber type disproportion.
Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.
Ann Neurol 61(6):552-61. 2007
12ACTA1, NEM3
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.
Neuromuscul Disord 16(2):113-21. Epub 2006 Jan 19. 2006
13ACTA1, NEM3
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
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.
Neuromuscul Disord 16(9-10):548-52. Epub 2006 Sep 1. 2006
14ACTA1, NEM3
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
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.
Neuromuscul Disord 16(9-10):541-7. Epub 2006 Sep 1. 2006
15ACTA1, CFTD1
Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.
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.
Brain 128(Pt 7):1716-27. Epub 2005 Apr 27. 2005
16NEM3, ACTA1
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.
Hum Mol Genet 13(16):1727-43. Epub 2004 Jun 15. 2004
17ACTM, ACTA1
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
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.
J Med Genet 41(11):842-8. No abstract available. 2004
18TTN, ACTA1
Differential actin binding along the PEVK domain of skeletal muscle titin.
Nagy A, Cacciafesta P, Grama L, Kengyel A, Malnasi-Csizmadia A, Kellermayer MS.
J Cell Sci 117(Pt 24):5781-9. Epub 2004 Oct 26. 2004
19ACTA1, CFTD1
Actin mutations are one cause of congenital fibre type disproportion.
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.
Ann Neurol 56(5):689-94. 2004
20ACTA1, ACTM, NEM3
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
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.
Am J Hum Genet 68(6):1333-43. 2001
21ACTA1, NEM3
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.
Neuromuscul Disord 11(1):35-40. 2001
22ACTA1, NEM3
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Buxmann H, Schlosser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V.
Neuropediatrics 32(5):267-70. 2001
23ACTA1, ACTM, NEM3
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ, et al.
Nat Genet 23(2):208-12 1999
24ACTA1
Assignment of the human skeletal muscle alpha-actin gene (ACTA1) to chromosome 1q42.13->q42.2 by radiation hybrid mapping.
Mogensen J, et al.
Cytogenet Cell Genet 83 : 224-225. 1998
25ACTM, ACTA1
Congenital myopathy with excess of thin myofilaments.
Goebel HH, et al.
Neuromuscul Disord 7(3):160-8 1997
26ACTA1
Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation.
Akkari PA, et al.
Cytogenet Cell Genet 65 : 265-267. 1994
27ACTA1
Binding sites involved in the interaction of actin with the N-terminal region of dystrophin.
Levine BA, Moir AJ, Patchell VB, Perry SV.
FEBS Lett 298(1):44-8. 1992
28ACTA1
An STS in the human skeletal alpha-actin gene.
Freeman BC, et al.
Nucleic Acids Res 19 : 5086. 1991
29ACTA1
Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains.
Taylor A, et al.
Genomics 3(4):323-36 1988
30ACTA1
The coexpressed genes for human alpha (ACTA) and cardiac actin (ACTC)are on chromosomes 1 and 15, respectively.
Shows TB, et al.
(HGM7) Cytogenet Cell Genet 37 : 583. 1984
31ACTA1, ACTC1
Chromosomal location of the co-expressed human skeletal and cardiac actin genes.
Gunning P, et al.
Proc Natl Acad Sci U S A 81 : 1813-1817. 1984
32ACTA1, ACTG2, ACTL4
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.
Hanauer A, et al.
(HGM7) Cytogenet Cell Genet 37 : 487-488. 1984