| 1 | BCL2L14, CASQ2, DLK1, GSK3B, GSK3B, HOXB8, KIF18A, TNFSF14
|
| Gene expression profiling of osteoblasts subjected to dexamethasone-induced apoptosis with/without GSK3β-shRNA.
|
| Nie Z, Chen S, Deng S, Long L, Peng P, Gao M, Cheng S, Cao J, Peng H.
|
| Biochem Biophys Res Commun 506(1):41-47. doi: 10.1016/j.bbrc.2018.10.043. Epub 2018 Oct 15.
2018
|
| 2 | CASQ2, RYR2
|
| Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.
|
| Handhle A, Ormonde CE, Thomas NL, Bralesford C, Williams AJ, Lai FA, Zissimopoulos S.
|
| J Cell Sci 129(21):3983-3988. Epub 2016 Sep 8.
2016
|
| 3 | CASQ2, HRC, RYR2, TRDN
|
| Characterization of Ca(2+)-Dependent Protein-Protein Interactions within the Ca(2+) Release Units of Cardiac Sarcoplasmic Reticulum.
|
| Rani S, Park CS, Sreenivasaiah PK, Kim DH.
|
| Mol Cells 39(2):149-55. doi: 10.14348/molcells.2016.2284. Epub 2015 Dec 15.
2016
|
| 4 | CASQ1, CASQ2
|
| The C-terminal calcium-sensitive disordered motifs regulate isoform-specific polymerization characteristics of calsequestrin.
|
| Bal NC, Jena N, Chakravarty H, Kumar A, Chi M, Balaraju T, Rawale SV, Rawale JS, Sharon A, Periasamy M.
|
| Biopolymers 103(1):15-22. doi: 10.1002/bip.22534.
2015
|
| 5 | CASQ2, VTSIP2
|
| Calsequestrin 2 deletion causes sinoatrial node dysfunction and atrial arrhythmias associated with altered sarcoplasmic reticulum calcium cycling and degenerative fibrosis within the mouse atrial pacemaker complex.
|
| Glukhov AV, Kalyanasundaram A, Lou Q, Hage LT, Hansen BJ, Belevych AE, Mohler PJ, Knollmann BC, Periasamy M, Györke S, Fedorov VV.
|
| Eur Heart J ur Heart J. 2013 Nov 11. [Epub ahead of print]
2013
|
| 6 | CASQ2, VTSIP2
|
| The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).
|
| Katz G, Shainberg A, Hochhauser E, Kurtzwald-Josefson E, Issac A, El-Ani D, Aravot D, Afek A, Seidman JG, Seidman CE, Eldar M, Arad M.
|
| Biochem Pharmacol 86(11):1576-83. doi: 10.1016/j.bcp.2013.09.012. Epub 2013 Sep 23.
2013
|
| 7 | CASQ2
|
| Up-regulation of sarcoplasmic reticulum Ca(2+) uptake leads to cardiac hypertrophy, contractile dysfunction and early mortality in mice deficient in CASQ2.
|
| Kalyanasundaram A, Lacombe VA, Belevych AE, Brunello L, Carnes CA, Janssen PM, Knollmann BC, Periasamy M, Gyørke S.
|
| Cardiovasc Res 98(2):297-306. doi: 10.1093/cvr/cvs334. Epub 2012 Nov 6.
2013
|
| 8 | CASQ1, CASQ2
|
| High-capacity Ca2+ binding of human skeletal calsequestrin.
|
| Sanchez EJ, Lewis KM, Danna BR, Kang C.
|
| J Biol Chem 287(14):11592-601. doi: 10.1074/jbc.M111.335075. Epub 2012 Feb 15.
2012
|
| 9 | CASQ2, VTSIP2
|
| Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.
|
| Marai I, Khoury A, Suleiman M, Gepstein L, Blich M, Lorber A, Boulos M.
|
| Am J Cardiol 110(1):72-6. doi: 10.1016/j.amjcard.2012.02.049. Epub 2012 Apr 3.
2012
|
| 10 | CASQ2
|
| Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
|
| Faggioni M, Kryshtal DO, Knollmann BC.
|
| Pediatr Cardiol 33(6):959-67. doi: 10.1007/s00246-012-0256-1. Epub 2012 Mar 16. Review.
2012
|
| 11 | ASPH, CASQ2
|
| Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
|
| Lee KW, Maeng JS, Choi JY, Lee YR, Hwang CY, Park SS, Park HK, Chung BH, Lee SG, Kim YS, Jeon H, Eom SH, Kang C, Kim do H, Kwon KS.
|
| J Biol Chem 287(3):1679-87. doi: 10.1074/jbc.M111.254045. Epub 2011 Nov 28.
2012
|
| 12 | CASQ2
|
| Calsequestrin accumulation in rough endoplasmic reticulum promotes perinuclear Ca2+ release.
|
| Guo A, Cala SE, Song LS.
|
| J Biol Chem 287(20):16670-80. doi: 10.1074/jbc.M112.340927. Epub 2012 Mar 28.
2012
|
| 13 | CASQ2, NOS1AP
|
| Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.
|
| Westaway SK, Reinier K, Huertas-Vazquez A, Evanado A, Teodorescu C, Navarro J, Sinner MF, Gunson K, Jui J, Spooner P, Kaab S, Chugh SS.
|
| Circ Cardiovasc Genet 4(4):397-402. Epub 2011 Jun 17.
2011
|
| 14 | CASQ2, VTSIP2
|
| Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
|
| Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N, Faivre L, Barthez O, Danieli GA, Marty I, Lunardi J, Fauré J.
|
| Hum Mutat um Mutat. 2011 May 26. doi: 10.1002/humu.21537. [Epub ahead of print]
2011
|
| 15 | CASQ2
|
| Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT).
|
| Eckey K, Strutz-Seebohm N, Katz G, Fuhrmann G, Henrion U, Pott L, Linke WA, Arad M, Lang F, Seebohm G.
|
| Cell Physiol Biochem 26(4-5):503-12. doi: 10.1159/000322318. Epub 2010 Oct 29.
2010
|
| 16 | CASQ2
|
| Mitochondrial uncoupling downregulates calsequestrin expression and reduces SR Ca2+ stores in cardiomyocytes.
|
| Hänninen SL, Ronkainen JJ, Leskinen H, Tavi P.
|
| Cardiovasc Res 88(1):75-82. doi: 10.1093/cvr/cvq180. Epub 2010 Jun 4.
2010
|
| 17 | CASQ2
|
| The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event.
|
| Wescombe L, Lahooti H, Gopinath B, Wall JR.
|
| Clin Endocrinol (Oxf) 73(4):522-8. doi: 10.1111/j.1365-2265.2009.03753.x.
2010
|
| 18 | ASPH, CASQ2, TRDN
|
| New roles of calsequestrin and triadin in cardiac muscle.
|
| Knollmann BC.
|
| J Physiol 587(Pt 13):3081-7. Epub 2009 May 18. Review.PMID: 19451205 2009
|
| 19 | CASQ1, CASQ2
|
| Unique isoform-specific properties of calsequestrin in the heart and skeletal muscle.
|
| Wei L, Hanna AD, Beard NA, Dulhunty AF.
|
| Cell Calcium 45(5):474-84. Epub 2009 Apr 18.PMID: 19376574 2009
|
| 20 | CASQ2
|
| Modulation of SR Ca release by luminal Ca and calsequestrin in cardiac myocytes: effects of CASQ2 mutations linked to sudden cardiac death.
|
| Terentyev D, Kubalova Z, Valle G, Nori A, Vedamoorthyrao S, Terentyeva R, Viatchenko-Karpinski S, Bers DM, Williams SC, Volpe P, Gyorke S.
|
| Biophys J 95(4):2037-48. Epub 2008 May 9.PMID: 18469084 2008
|
| 21 | CASQ1, CASQ2, VTSIP1, VTSIP2
|
| Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
|
| Song L, Alcalai R, Arad M, Wolf CM, Toka O, Conner DA, Berul CI, Eldar M, Seidman CE, Seidman JG.
|
| J Clin Invest 117(7):1814-23.
2007
|
| 22 | CASQ2, TRDN
|
| Protein protein interactions between triadin and calsequestrin are involved in modulation of sarcoplasmic reticulum calcium release in cardiac myocytes.
|
| Terentyev D, Viatchenko-Karpinski S, Vedamoorthyrao S, Oduru S, Györke I, Williams SC, Györke S.
|
| J Physiol 583(Pt 1):71-80. Epub 2007 Jun 14.PMID: 17569730 2007
|
| 23 | CALR3, CASQ2, PLN
|
| Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
| Chiu C, Tebo M, Ingles J, Yeates L, Arthur JW, Lind JM, Semsarian C.
|
| J Mol Cell Cardiol 43(3):337-43. Epub 2007 Jun 30.PMID: 17655857 2007
|
| 24 | CASQ2, VTSIP1
|
| Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
|
| di Barletta MR, Viatchenko-Karpinski S, Nori A, Memmi M, Terentyev D, Turcato F, Valle G, Rizzi N, Napolitano C, Gyorke S, Volpe P, Priori SG.
|
| Circulation 114(10):1012-9. Epub 2006 Aug 14. 2006
|
| 25 | CASQ2
|
| Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia.
|
| Knollmann BC, Chopra N, Hlaing T, Akin B, Yang T, Ettensohn K, Knollmann BE, Horton KD, Weissman NJ, Holinstat I, Zhang W, Roden DM, Jones LR, Franzini-Armstrong C, Pfeifer K.
|
| J Clin Invest 116(9):2510-20. Epub 2006 Aug 24. 2006
|
| 26 | VTSIP1, CASQ2
|
| A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
|
| Eldar M, Pras E, Lahat H.
|
| Trends Cardiovasc Med 13(4):148-51. Review. 2003
|
| 27 | CAPZA1, CASQ2, TSPAN2, VTSIP2
|
| A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
|
| Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M.
|
| Am J Hum Genet 69(6):1378-84. 2001
|
| 28 | CASQ2, VTSIP1
|
| Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.
|
| Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E.
|
| Circulation 103(23):2822-7. 2001
|
| 29 | ATP2A2, PLN, CASQ1, CASQ2, RYR2
|
| Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.
|
| Otsu K, et al.
|
| Genomics 17 : 507-509. 1993
|