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220 related items for PubMed ID: 19468071
1. Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clément S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. J Cell Biol; 2009 Jun 01; 185(5):903-15. PubMed ID: 19468071 [Abstract] [Full Text] [Related]
2. Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production. Ochala J, Iwamoto H, Ravenscroft G, Laing NG, Nowak KJ. Hum Mol Genet; 2013 Nov 01; 22(21):4398-404. PubMed ID: 23784376 [Abstract] [Full Text] [Related]
4. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Ravenscroft G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. Brain; 2011 Apr 01; 134(Pt 4):1101-15. PubMed ID: 21303860 [Abstract] [Full Text] [Related]
5. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Ilkovski B, Clement S, Sewry C, North KN, Cooper ST. Neuromuscul Disord; 2005 Dec 01; 15(12):829-35. PubMed ID: 16288873 [Abstract] [Full Text] [Related]
6. Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ. PLoS One; 2011 Dec 01; 6(12):e28699. PubMed ID: 22174871 [Abstract] [Full Text] [Related]
8. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Ann Neurol; 2004 Jul 01; 56(1):86-96. PubMed ID: 15236405 [Abstract] [Full Text] [Related]
9. Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism. Gineste C, Duhamel G, Le Fur Y, Vilmen C, Cozzone PJ, Nowak KJ, Bendahan D, Gondin J. PLoS One; 2013 Jul 01; 8(8):e72294. PubMed ID: 23977274 [Abstract] [Full Text] [Related]
10. Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene. Haigh SE, Salvi SS, Sevdali M, Stark M, Goulding D, Clayton JD, Bullard B, Sparrow JC, Nongthomba U. Neuromuscul Disord; 2010 Jun 01; 20(6):363-74. PubMed ID: 20452215 [Abstract] [Full Text] [Related]
11. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Crawford K, Flick R, Close L, Shelly D, Paul R, Bove K, Kumar A, Lessard J. Mol Cell Biol; 2002 Aug 01; 22(16):5887-96. PubMed ID: 12138199 [Abstract] [Full Text] [Related]
12. A developmental study of the abnormal expression of alpha-cardiac and alpha-skeletal actins in the striated muscle of a mutant mouse. Garner I, Sassoon D, Vandekerckhove J, Alonso S, Buckingham ME. Dev Biol; 1989 Jul 01; 134(1):236-45. PubMed ID: 2731651 [Abstract] [Full Text] [Related]
13. 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; 2007 Feb 01; 61(2):175-84. PubMed ID: 17187373 [Abstract] [Full Text] [Related]
14. Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation. Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ. Biochim Biophys Acta Gene Regul Mech; 2017 Oct 01; 1860(10):1025-1036. PubMed ID: 28847732 [Abstract] [Full Text] [Related]
16. 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, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Hum Mutat; 2009 Sep 01; 30(9):1267-77. PubMed ID: 19562689 [Abstract] [Full Text] [Related]
17. 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; 2001 Jun 01; 68(6):1333-43. PubMed ID: 11333380 [Abstract] [Full Text] [Related]
18. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Neuromuscul Disord; 2003 Sep 01; 13(7-8):519-31. PubMed ID: 12921789 [Abstract] [Full Text] [Related]
19. 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; 2001 Jan 01; 11(1):35-40. PubMed ID: 11166164 [Abstract] [Full Text] [Related]
20. 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; 2007 Jun 01; 61(6):552-61. PubMed ID: 17387733 [Abstract] [Full Text] [Related] Page: [Next] [New Search]