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447 related items for PubMed ID: 28917552

  • 1. CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
    Ben Jehuda R, Eisen B, Shemer Y, Mekies LN, Szantai A, Reiter I, Cui H, Guan K, Haron-Khun S, Freimark D, Sperling SR, Gherghiceanu M, Arad M, Binah O.
    Heart Rhythm; 2018 Feb; 15(2):267-276. PubMed ID: 28917552
    [Abstract] [Full Text] [Related]

  • 2. Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.
    Zhan Y, Sun X, Li B, Cai H, Xu C, Liang Q, Lu C, Qian R, Chen S, Yin L, Sheng W, Huang G, Sun A, Ge J, Sun N.
    J Mol Cell Cardiol; 2018 Apr; 117():49-61. PubMed ID: 29452156
    [Abstract] [Full Text] [Related]

  • 3. Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.
    Eisen B, Ben Jehuda R, Cuttitta AJ, Mekies LN, Shemer Y, Baskin P, Reiter I, Willi L, Freimark D, Gherghiceanu M, Monserrat L, Scherr M, Hilfiker-Kleiner D, Arad M, Michele DE, Binah O.
    J Cell Mol Med; 2019 Mar; 23(3):2125-2135. PubMed ID: 30618214
    [Abstract] [Full Text] [Related]

  • 4. Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
    Folmes KD, Chan AY, Koonen DP, Pulinilkunnil TC, Baczkó I, Hunter BE, Thorn S, Allard MF, Roberts R, Gollob MH, Light PE, Dyck JR.
    Circ Cardiovasc Genet; 2009 Oct; 2(5):457-66. PubMed ID: 20031621
    [Abstract] [Full Text] [Related]

  • 5. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.
    Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.
    Circulation; 2003 Jun 10; 107(22):2850-6. PubMed ID: 12782567
    [Abstract] [Full Text] [Related]

  • 6. Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.
    Hallas T, Eisen B, Shemer Y, Ben Jehuda R, Mekies LN, Naor S, Schick R, Eliyahu S, Reiter I, Vlodavsky E, Katz YS, Õunap K, Lorber A, Rodenburg R, Mandel H, Gherghiceanu M, Binah O.
    J Cell Mol Med; 2018 Feb 10; 22(2):913-925. PubMed ID: 29193756
    [Abstract] [Full Text] [Related]

  • 7. Investigating LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
    Shemer Y, Mekies LN, Ben Jehuda R, Baskin P, Shulman R, Eisen B, Regev D, Arbustini E, Gerull B, Gherghiceanu M, Gottlieb E, Arad M, Binah O.
    Int J Mol Sci; 2021 Jul 23; 22(15):. PubMed ID: 34360639
    [Abstract] [Full Text] [Related]

  • 8. Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.
    Sidhu JS, Rajawat YS, Rami TG, Gollob MH, Wang Z, Yuan R, Marian AJ, DeMayo FJ, Weilbacher D, Taffet GE, Davies JK, Carling D, Khoury DS, Roberts R.
    Circulation; 2005 Jan 04; 111(1):21-9. PubMed ID: 15611370
    [Abstract] [Full Text] [Related]

  • 9. Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome.
    Guo F, Sun Y, Wang X, Wang H, Wang J, Gong T, Chen X, Zhang P, Su L, Fu G, Su J, Yang S, Lai R, Jiang C, Liang P.
    Circ Res; 2019 Jan 04; 124(1):66-78. PubMed ID: 30582453
    [Abstract] [Full Text] [Related]

  • 10. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
    Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE.
    J Clin Invest; 2002 Feb 04; 109(3):357-62. PubMed ID: 11827995
    [Abstract] [Full Text] [Related]

  • 11. Pathogenic mechanism and gene correction for LQTS-causing double mutations in KCNQ1 using a pluripotent stem cell model.
    Wang Z, Wang L, Liu W, Hu D, Gao Y, Ge Q, Liu X, Li L, Wang Y, Wang S, Li C.
    Stem Cell Res; 2019 Jul 04; 38():101483. PubMed ID: 31226583
    [Abstract] [Full Text] [Related]

  • 12. Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
    Zhang BL, Ye Z, Xu RL, You XH, Qin YW, Wu H, Cao J, Zhang JL, Zheng X, Zhao XX.
    Clin Genet; 2014 Sep 04; 86(3):287-91. PubMed ID: 23992123
    [Abstract] [Full Text] [Related]

  • 13. Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
    Ma N, Zhang JZ, Itzhaki I, Zhang SL, Chen H, Haddad F, Kitani T, Wilson KD, Tian L, Shrestha R, Wu H, Lam CK, Sayed N, Wu JC.
    Circulation; 2018 Dec 04; 138(23):2666-2681. PubMed ID: 29914921
    [Abstract] [Full Text] [Related]

  • 14. Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.
    Zhang BL, Xu RL, Zhang J, Zhao XX, Wu H, Ma LP, Hu JQ, Zhang JL, Ye Z, Zheng X, Qin YW.
    J Cardiol; 2013 Oct 04; 62(4):241-8. PubMed ID: 23778007
    [Abstract] [Full Text] [Related]

  • 15. Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
    Hu J, Tang B, Wang J, Huang K, Wang Y, Lu S, Gowreesunkur HB, Wang Y, Wu D, Mayala HA, Wang ZH.
    Curr Med Sci; 2020 Jun 04; 40(3):486-492. PubMed ID: 32681253
    [Abstract] [Full Text] [Related]

  • 16. Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
    Estes SI, Ye D, Zhou W, Dotzler SM, Tester DJ, Bos JM, Kim CSJ, Ackerman MJ.
    Circ Genom Precis Med; 2019 Aug 04; 12(8):e002534. PubMed ID: 31430211
    [Abstract] [Full Text] [Related]

  • 17. Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.
    Miyamoto L.
    J Med Invest; 2018 Aug 04; 65(1.2):1-8. PubMed ID: 29593177
    [Abstract] [Full Text] [Related]

  • 18. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
    Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R.
    Circulation; 2001 Dec 18; 104(25):3030-3. PubMed ID: 11748095
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome.
    Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT.
    J Cardiovasc Electrophysiol; 2003 Mar 18; 14(3):263-8. PubMed ID: 12716108
    [Abstract] [Full Text] [Related]

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