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Items: 1 to 20 of 118


Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.

Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Xiang R.

Cytogenet Genome Res. 2019;157(3):148-152. doi: 10.1159/000496077. Epub 2019 Jan 11.


Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.

Haywood NJ, Wolny M, Rogers B, Trinh CH, Shuping Y, Edwards TA, Peckham M.

Biochem J. 2016 Aug 15;473(16):2485-93. doi: 10.1042/BCJ20160421. Epub 2016 Jun 10.


Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I.

Circ Cardiovasc Genet. 2014 Dec;7(6):741-50. doi: 10.1161/CIRCGENETICS.113.000486. Epub 2014 Aug 30.


Genetic Association of MPPED2 and ACTN2 with Dental Caries.

Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML, Shaffer JR.

J Dent Res. 2014 Jul;93(7):626-32. doi: 10.1177/0022034514534688. Epub 2014 May 8.


Genome sequences and phylogenetic analysis of K88- and F18-positive porcine enterotoxigenic Escherichia coli.

Shepard SM, Danzeisen JL, Isaacson RE, Seemann T, Achtman M, Johnson TJ.

J Bacteriol. 2012 Jan;194(2):395-405. doi: 10.1128/JB.06225-11. Epub 2011 Nov 11.


Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C.

J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35. doi: 10.1016/j.jacc.2009.11.016.


Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle.

Tiso N, Majetti M, Stanchi F, Rampazzo A, Zimbello R, Nava A, Danieli GA.

Biochem Biophys Res Commun. 1999 Nov;265(1):256-9.


A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG.

Genomics. 1992 Aug;13(4):1314-5.


α-Actinin/titin interaction: A dynamic and mechanically stable cluster of bonds in the muscle Z-disk.

Grison M, Merkel U, Kostan J, Djinović-Carugo K, Rief M.

Proc Natl Acad Sci U S A. 2017 Jan 31;114(5):1015-1020. doi: 10.1073/pnas.1612681114. Epub 2017 Jan 17.


The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.

Harazi A, Becker-Cohen M, Zer H, Moshel O, Hinderlich S, Mitrani-Rosenbaum S.

Mol Neurobiol. 2017 May;54(4):2928-2938. doi: 10.1007/s12035-016-9862-x. Epub 2016 Mar 29.


The structure and regulation of human muscle α-actinin.

Ribeiro Ede A Jr, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, Sjöblom B, Schreiner C, Polyansky AA, Gkougkoulia EA, Holt MR, Aachmann FL, Zagrović B, Bordignon E, Pirker KF, Svergun DI, Gautel M, Djinović-Carugo K.

Cell. 2014 Dec 4;159(6):1447-60. doi: 10.1016/j.cell.2014.10.056. Epub 2014 Nov 26.


alpha-actinin-3 and performance.

Yang N, Garton F, North K.

Med Sport Sci. 2009;54:88-101. doi: 10.1159/000235698. Epub 2009 Aug 17.


Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes.

Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA.

J Appl Physiol (1985). 2009 Mar;106(3):959-65. doi: 10.1152/japplphysiol.91435.2008. Epub 2009 Jan 15.


Alpha-actinin-2, a cytoskeletal protein, binds to angiogenin.

Hu H, Gao X, Sun Y, Zhou J, Yang M, Xu Z.

Biochem Biophys Res Commun. 2005 Apr 8;329(2):661-7.


Interaction of hCLIM1, an enigma family protein, with alpha-actinin 2.

Kotaka M, Kostin S, Ngai S, Chan K, Lau Y, Lee SM, Li Hy, Ng EK, Schaper J, Tsui SK, Fung Kp, Lee Cy, Waye MM.

J Cell Biochem. 2000 Jun 12;78(4):558-65.


Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.

Chan Y, Tong HQ, Beggs AH, Kunkel LM.

Biochem Biophys Res Commun. 1998 Jul 9;248(1):134-9.


Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

Beggs AH, Byers TJ, Knoll JH, Boyce FM, Bruns GA, Kunkel LM.

J Biol Chem. 1992 May 5;267(13):9281-8.


Distinct subcellular mechanisms for the enhancement of the surface membrane expression of SK2 channel by its interacting proteins, α-actinin2 and filamin A.

Zhang Z, Ledford HA, Park S, Wang W, Rafizadeh S, Kim HJ, Xu W, Lu L, Lau VC, Knowlton AA, Zhang XD, Yamoah EN, Chiamvimonvat N.

J Physiol. 2017 Apr 1;595(7):2271-2284. doi: 10.1113/JP272942. Epub 2016 Dec 7.


The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.

Agarwal SK, Simonds WF, Marx SJ.

Mol Cancer. 2008 Aug 7;7:65. doi: 10.1186/1476-4598-7-65.

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