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Items: 1 to 20 of 219

1.

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Kanhai D, Mulder R, Ploos van Amstel HK, Schutgens R, Lukens M, Tamminga RYJ.

Pediatr Blood Cancer. 2018 Dec;65(12):e27418. doi: 10.1002/pbc.27418. Epub 2018 Aug 19.

PMID:
30124235
2.

ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.

Boutroux H, David B, Guéguen P, Frange P, Vincenot A, Leverger G, Favier R.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e515-e518. doi: 10.1097/MPH.0000000000000885.

PMID:
28562514
3.

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.

Yang L, Yu P, Chen X, Cai T.

Mol Med Rep. 2016 Aug;14(2):1693-6. doi: 10.3892/mmr.2016.5429. Epub 2016 Jun 23. Review.

PMID:
27357517
4.

Structure and calcium-binding studies of calmodulin-like domain of human non-muscle α-actinin-1.

Drmota Prebil S, Slapšak U, Pavšič M, Ilc G, Puž V, de Almeida Ribeiro E, Anrather D, Hartl M, Backman L, Plavec J, Lenarčič B, Djinović-Carugo K.

Sci Rep. 2016 Jun 7;6:27383. doi: 10.1038/srep27383.

5.

Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of α-actinin-1 enhance F-actin association.

Murphy AC, Lindsay AJ, McCaffrey MW, Djinović-Carugo K, Young PW.

FEBS Lett. 2016 Mar;590(6):685-95. doi: 10.1002/1873-3468.12101. Epub 2016 Mar 1.

6.

Anti-alpha-actinin antibodies are part of the anti-cell membrane antibody spectrum that characterize patients with lupus nephritis.

Seret G, Cañas F, Pougnet-Di Costanzo L, Hanrotel-Saliou C, Jousse-Joulin S, Le Meur Y, Saraux A, Valeri A, Putterman C, Youinou P, Rojas-Villarraga A, Anaya JM, Renaudineau Y.

J Autoimmun. 2015 Jul;61:54-61. doi: 10.1016/j.jaut.2015.05.009. Epub 2015 Jun 10.

PMID:
26071203
7.

Alpha actinin-1 regulates cell-matrix adhesion organization in keratinocytes: consequences for skin cell motility.

Hamill KJ, Hiroyasu S, Colburn ZT, Ventrella RV, Hopkinson SB, Skalli O, Jones JCR.

J Invest Dermatol. 2015 Apr;135(4):1043-1052. doi: 10.1038/jid.2014.505. Epub 2014 Nov 28.

8.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

9.

Alpha actinin is specifically recognized by Multiple Sclerosis autoantibodies isolated using an N-glucosylated peptide epitope.

Pandey S, Dioni I, Lambardi D, Real-Fernandez F, Peroni E, Pacini G, Lolli F, Seraglia R, Papini AM, Rovero P.

Mol Cell Proteomics. 2013 Feb;12(2):277-82. doi: 10.1074/mcp.M112.017087. Epub 2012 Nov 8.

10.

Mactinin, a fragment of cytoskeletal alpha-actinin, is a novel inducer of heat shock protein (Hsp)-90 mediated monocyte activation.

Luikart SD, Panoskaltsis-Mortari A, Hinkel T, Perri RT, Gupta K, Oegema TR, Gupta P.

BMC Cell Biol. 2009 Aug 28;10:60. doi: 10.1186/1471-2121-10-60.

11.

Expression of alpha-actinin-1 in human glomerular mesangial cells in vivo and in vitro.

Yang C, Glass WF 2nd.

Exp Biol Med (Maywood). 2008 Jun;233(6):689-93. doi: 10.3181/0710-RM-279. Epub 2008 Apr 11.

PMID:
18408146
12.

Phosphoinositide binding regulates alpha-actinin CH2 domain structure: analysis by hydrogen/deuterium exchange mass spectrometry.

Full SJ, Deinzer ML, Ho PS, Greenwood JA.

Protein Sci. 2007 Dec;16(12):2597-604. Epub 2007 Oct 26.

13.

Alpha-actinin-1 phosphorylation modulates pressure-induced colon cancer cell adhesion through regulation of focal adhesion kinase-Src interaction.

Craig DH, Haimovich B, Basson MD.

Am J Physiol Cell Physiol. 2007 Dec;293(6):C1862-74. Epub 2007 Sep 26.

14.

Mechanical response and conformational changes of alpha-actinin domains during unfolding: a molecular dynamics study.

Soncini M, Vesentini S, Ruffoni D, Orsi M, Deriu MA, Redaelli A.

Biomech Model Mechanobiol. 2007 Nov;6(6):399-407. Epub 2006 Nov 18.

PMID:
17115122
15.

Phosphoinositide binding regulates alpha-actinin dynamics: mechanism for modulating cytoskeletal remodeling.

Fraley TS, Pereira CB, Tran TC, Singleton C, Greenwood JA.

J Biol Chem. 2005 Apr 15;280(15):15479-82. Epub 2005 Feb 13.

16.

Functional consequences of caspase activation in cardiac myocytes.

Communal C, Sumandea M, de Tombe P, Narula J, Solaro RJ, Hajjar RJ.

Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6252-6. Epub 2002 Apr 23.

17.

Ca2+-independent binding of an EF-hand domain to a novel motif in the alpha-actinin-titin complex.

Atkinson RA, Joseph C, Kelly G, Muskett FW, Frenkiel TA, Nietlispach D, Pastore A.

Nat Struct Biol. 2001 Oct;8(10):853-7.

PMID:
11573089
18.

Crystal structure of the alpha-actinin rod reveals an extensive torsional twist.

Ylänne J, Scheffzek K, Young P, Saraste M.

Structure. 2001 Jul 3;9(7):597-604.

19.

A fragment of alpha-actinin promotes monocyte/macrophage maturation in vitro.

Luikart S, Wahl D, Hinkel T, Masri M, Oegema T.

Exp Hematol. 1999 Feb;27(2):337-44.

PMID:
10029173
20.

Integrins and development: how might these receptors regulate differentiation of the lens.

Menko S, Philp N, Veneziale B, Walker J.

Ann N Y Acad Sci. 1998 Apr 15;842:36-41. Review.

PMID:
9599291

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