메뉴 건너뛰기




Volumn 7, Issue 3, 2016, Pages 355-369

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN II; ATRIAL NATRIURETIC FACTOR; B RAF KINASE; B RAF KINASE 1; B RAF KINASE 2; B RAF KINASE 3; BRAIN NATRIURETIC PEPTIDE; COLLAGEN TYPE 1; CONNECTIVE TISSUE GROWTH FACTOR; ENDOTHELIN 1; KRUPPEL LIKE FACTOR 4; MITOGEN ACTIVATED PROTEIN KINASE; MYC PROTEIN; MYOSIN HEAVY CHAIN ALPHA; MYOSIN HEAVY CHAIN BETA; OCTAMER TRANSCRIPTION FACTOR 4; PHOSPHOLAMBAN; RAS PROTEIN; SIRP ALPHA; THY 1 ANTIGEN; TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR SOX2; TRANSFORMING GROWTH FACTOR BETA; TROPONIN T; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; CALCIUM; TRANSFORMING GROWTH FACTOR BETA1;

EID: 84990036865     PISSN: 22136711     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.stemcr.2016.07.018     Document Type: Article
Times cited : (29)

References (50)
  • 2
    • 84865843828 scopus 로고    scopus 로고
    • The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway
    • Andreadi, C., Cheung, L.K., Giblett, S., Patel, B., Jin, H., Mercer, K., Kamata, T., Lee, P., Williams, A., McMahon, M., et al. The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. Genes Dev. 26 (2012), 1945–1958.
    • (2012) Genes Dev. , vol.26 , pp. 1945-1958
    • Andreadi, C.1    Cheung, L.K.2    Giblett, S.3    Patel, B.4    Jin, H.5    Mercer, K.6    Kamata, T.7    Lee, P.8    Williams, A.9    McMahon, M.10
  • 3
    • 0033967571 scopus 로고    scopus 로고
    • Myosin light chain kinase mediates sarcomere organization during cardiac hypertrophy in vitro
    • Aoki, H., Sadoshima, J., Izumo, S., Myosin light chain kinase mediates sarcomere organization during cardiac hypertrophy in vitro. Nat. Med. 6 (2000), 183–188.
    • (2000) Nat. Med. , vol.6 , pp. 183-188
    • Aoki, H.1    Sadoshima, J.2    Izumo, S.3
  • 4
    • 28044470767 scopus 로고    scopus 로고
    • Effect of Losartan on left ventricular diastolic function in patients with nonobstructive hypertrophic cardiomyopathy
    • Araujo, A.Q., Arteaga, E., Ianni, B.M., Buck, P.C., Rabello, R., Mady, C., Effect of Losartan on left ventricular diastolic function in patients with nonobstructive hypertrophic cardiomyopathy. Am. J. Cardiol. 96 (2005), 1563–1567.
    • (2005) Am. J. Cardiol. , vol.96 , pp. 1563-1567
    • Araujo, A.Q.1    Arteaga, E.2    Ianni, B.M.3    Buck, P.C.4    Rabello, R.5    Mady, C.6
  • 5
    • 42049090566 scopus 로고    scopus 로고
    • Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
    • Armour, C.M., Allanson, J.E., Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J. Med. Genet. 45 (2008), 249–254.
    • (2008) J. Med. Genet. , vol.45 , pp. 249-254
    • Armour, C.M.1    Allanson, J.E.2
  • 7
    • 0036159503 scopus 로고    scopus 로고
    • Is angiotensin II a proliferative factor of cardiac fibroblasts?
    • Bouzegrhane, F., Thibault, G., Is angiotensin II a proliferative factor of cardiac fibroblasts?. Cardiovasc. Res. 53 (2002), 304–312.
    • (2002) Cardiovasc. Res. , vol.53 , pp. 304-312
    • Bouzegrhane, F.1    Thibault, G.2
  • 9
    • 11144346203 scopus 로고    scopus 로고
    • Structural and functional characterisation of cardiac fibroblasts
    • Camelliti, P., Borg, T.K., Kohl, P., Structural and functional characterisation of cardiac fibroblasts. Cardiovasc. Res. 65 (2005), 40–51.
    • (2005) Cardiovasc. Res. , vol.65 , pp. 40-51
    • Camelliti, P.1    Borg, T.K.2    Kohl, P.3
  • 11
    • 84958225498 scopus 로고    scopus 로고
    • Human engineered cardiac tissues created using induced pluripotent stem cells reveal functional characteristics of BRAF-mediated hypertrophic cardiomyopathy
    • Cashman, T.J., Josowitz, R., Johnson, B.V., Gelb, B.D., Costa, K.D., Human engineered cardiac tissues created using induced pluripotent stem cells reveal functional characteristics of BRAF-mediated hypertrophic cardiomyopathy. PLoS One, 11, 2016, e0146697.
    • (2016) PLoS One , vol.11 , pp. e0146697
    • Cashman, T.J.1    Josowitz, R.2    Johnson, B.V.3    Gelb, B.D.4    Costa, K.D.5
  • 14
    • 12944268866 scopus 로고    scopus 로고
    • Interactions between cardiac cells enhance cardiomyocyte hypertrophy and increase fibroblast proliferation
    • Fredj, S., Bescond, J., Louault, C., Potreau, D., Interactions between cardiac cells enhance cardiomyocyte hypertrophy and increase fibroblast proliferation. J. Cell Physiol. 202 (2005), 891–899.
    • (2005) J. Cell Physiol. , vol.202 , pp. 891-899
    • Fredj, S.1    Bescond, J.2    Louault, C.3    Potreau, D.4
  • 15
    • 84899094818 scopus 로고    scopus 로고
    • Fibroblast-mediated pathways in cardiac hypertrophy
    • Fujiu, K., Nagai, R., Fibroblast-mediated pathways in cardiac hypertrophy. J. Mol. Cell Cardiol. 70C (2014), 64–73.
    • (2014) J. Mol. Cell Cardiol. , vol.70C , pp. 64-73
    • Fujiu, K.1    Nagai, R.2
  • 16
    • 0032213728 scopus 로고    scopus 로고
    • Angiotensin II stimulates cardiac myocyte hypertrophy via paracrine release of TGF-beta 1 and endothelin-1 from fibroblasts
    • Gray, M.O., Long, C.S., Kalinyak, J.E., Li, H.T., Karliner, J.S., Angiotensin II stimulates cardiac myocyte hypertrophy via paracrine release of TGF-beta 1 and endothelin-1 from fibroblasts. Cardiovasc. Res. 40 (1998), 352–363.
    • (1998) Cardiovasc. Res. , vol.40 , pp. 352-363
    • Gray, M.O.1    Long, C.S.2    Kalinyak, J.E.3    Li, H.T.4    Karliner, J.S.5
  • 17
    • 4043076222 scopus 로고    scopus 로고
    • Raf-1 kinase is required for cardiac hypertrophy and cardiomyocyte survival in response to pressure overload
    • Harris, I.S., Zhang, S., Treskov, I., Kovacs, A., Weinheimer, C., Muslin, A.J., Raf-1 kinase is required for cardiac hypertrophy and cardiomyocyte survival in response to pressure overload. Circulation 110 (2004), 718–723.
    • (2004) Circulation , vol.110 , pp. 718-723
    • Harris, I.S.1    Zhang, S.2    Treskov, I.3    Kovacs, A.4    Weinheimer, C.5    Muslin, A.J.6
  • 19
    • 33748323383 scopus 로고    scopus 로고
    • Regulation of cardiac hypertrophy by intracellular signalling pathways
    • Heineke, J., Molkentin, J.D., Regulation of cardiac hypertrophy by intracellular signalling pathways. Nat. Rev. Mol. Cell Biol. 7 (2006), 589–600.
    • (2006) Nat. Rev. Mol. Cell Biol. , vol.7 , pp. 589-600
    • Heineke, J.1    Molkentin, J.D.2
  • 21
    • 0029091356 scopus 로고
    • Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice
    • Hunter, J.J., Tanaka, N., Rockman, H.A., Ross, J. Jr., Chien, K.R., Ventricular expression of a MLC-2v-ras fusion gene induces cardiac hypertrophy and selective diastolic dysfunction in transgenic mice. J. Biol. Chem. 270 (1995), 23173–23178.
    • (1995) J. Biol. Chem. , vol.270 , pp. 23173-23178
    • Hunter, J.J.1    Tanaka, N.2    Rockman, H.A.3    Ross, J.4    Chien, K.R.5
  • 22
    • 0034646440 scopus 로고    scopus 로고
    • Angiotensin II has multiple profibrotic effects in human cardiac fibroblasts
    • Kawano, H., Do, Y.S., Kawano, Y., Starnes, V., Barr, M., Law, R.E., Hsueh, W.A., Angiotensin II has multiple profibrotic effects in human cardiac fibroblasts. Circulation 101 (2000), 1130–1137.
    • (2000) Circulation , vol.101 , pp. 1130-1137
    • Kawano, H.1    Do, Y.S.2    Kawano, Y.3    Starnes, V.4    Barr, M.5    Law, R.E.6    Hsueh, W.A.7
  • 23
    • 67349272039 scopus 로고    scopus 로고
    • CD90 Expression on human primary cells and elimination of contaminating fibroblasts from cell cultures
    • Kisselbach, L., Merges, M., Bossie, A., Boyd, A., CD90 Expression on human primary cells and elimination of contaminating fibroblasts from cell cultures. Cytotechnology 59 (2009), 31–44.
    • (2009) Cytotechnology , vol.59 , pp. 31-44
    • Kisselbach, L.1    Merges, M.2    Bossie, A.3    Boyd, A.4
  • 26
    • 0036645337 scopus 로고    scopus 로고
    • Transforming growth factor-beta function blocking prevents myocardial fibrosis and diastolic dysfunction in pressure-overloaded rats
    • Kuwahara, F., Kai, H., Tokuda, K., Kai, M., Takeshita, A., Egashira, K., Imaizumi, T., Transforming growth factor-beta function blocking prevents myocardial fibrosis and diastolic dysfunction in pressure-overloaded rats. Circulation 106 (2002), 130–135.
    • (2002) Circulation , vol.106 , pp. 130-135
    • Kuwahara, F.1    Kai, H.2    Tokuda, K.3    Kai, M.4    Takeshita, A.5    Egashira, K.6    Imaizumi, T.7
  • 28
    • 84872026086 scopus 로고    scopus 로고
    • Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells
    • Lan, F., Lee, A.S., Liang, P., Sanchez-Freire, V., Nguyen, P.K., Wang, L., Han, L., Yen, M., Wang, Y., Sun, N., et al. Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. Cell Stem Cell 12 (2013), 101–113.
    • (2013) Cell Stem Cell , vol.12 , pp. 101-113
    • Lan, F.1    Lee, A.S.2    Liang, P.3    Sanchez-Freire, V.4    Nguyen, P.K.5    Wang, L.6    Han, L.7    Yen, M.8    Wang, Y.9    Sun, N.10
  • 29
    • 0035852766 scopus 로고    scopus 로고
    • Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy
    • Lim, D.S., Lutucuta, S., Bachireddy, P., Youker, K., Evans, A., Entman, M., Roberts, R., Marian, A.J., Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation 103 (2001), 789–791.
    • (2001) Circulation , vol.103 , pp. 789-791
    • Lim, D.S.1    Lutucuta, S.2    Bachireddy, P.3    Youker, K.4    Evans, A.5    Entman, M.6    Roberts, R.7    Marian, A.J.8
  • 30
    • 84880227000 scopus 로고    scopus 로고
    • Structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells
    • Lundy, S.D., Zhu, W.Z., Regnier, M., Laflamme, M.A., Structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells. Stem Cells Dev. 22 (2013), 1991–2002.
    • (2013) Stem Cells Dev. , vol.22 , pp. 1991-2002
    • Lundy, S.D.1    Zhu, W.Z.2    Regnier, M.3    Laflamme, M.A.4
  • 32
    • 3242772151 scopus 로고    scopus 로고
    • Calcineurin-NFAT signaling regulates the cardiac hypertrophic response in coordination with the MAPKs
    • Molkentin, J.D., Calcineurin-NFAT signaling regulates the cardiac hypertrophic response in coordination with the MAPKs. Cardiovasc. Res. 63 (2004), 467–475.
    • (2004) Cardiovasc. Res. , vol.63 , pp. 467-475
    • Molkentin, J.D.1
  • 33
    • 84864243791 scopus 로고    scopus 로고
    • Differentiation of human embryonic stem cells and induced pluripotent stem cells to cardiomyocytes: a methods overview
    • Mummery, C.L., Zhang, J., Ng, E.S., Elliott, D.A., Elefanty, A.G., Kamp, T.J., Differentiation of human embryonic stem cells and induced pluripotent stem cells to cardiomyocytes: a methods overview. Circ. Res. 111 (2012), 344–358.
    • (2012) Circ. Res. , vol.111 , pp. 344-358
    • Mummery, C.L.1    Zhang, J.2    Ng, E.S.3    Elliott, D.A.4    Elefanty, A.G.5    Kamp, T.J.6
  • 35
    • 35348921181 scopus 로고    scopus 로고
    • Genetic inhibition of cardiac ERK1/2 promotes stress-induced apoptosis and heart failure but has no effect on hypertrophy in vivo
    • Purcell, N.H., Wilkins, B.J., York, A., Saba-El-Leil, M.K., Meloche, S., Robbins, J., Molkentin, J.D., Genetic inhibition of cardiac ERK1/2 promotes stress-induced apoptosis and heart failure but has no effect on hypertrophy in vivo. Proc. Natl. Acad. Sci. USA 104 (2007), 14074–14079.
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 14074-14079
    • Purcell, N.H.1    Wilkins, B.J.2    York, A.3    Saba-El-Leil, M.K.4    Meloche, S.5    Robbins, J.6    Molkentin, J.D.7
  • 39
    • 0034711160 scopus 로고    scopus 로고
    • Enhanced Ca(2+) release and Na/Ca exchange activity in hypertrophied canine ventricular myocytes: potential link between contractile adaptation and arrhythmogenesis
    • Sipido, K.R., Volders, P.G., de Groot, S.H., Verdonck, F., Van de Werf, F., Wellens, H.J., Vos, M.A., Enhanced Ca(2+) release and Na/Ca exchange activity in hypertrophied canine ventricular myocytes: potential link between contractile adaptation and arrhythmogenesis. Circulation 102 (2000), 2137–2144.
    • (2000) Circulation , vol.102 , pp. 2137-2144
    • Sipido, K.R.1    Volders, P.G.2    de Groot, S.H.3    Verdonck, F.4    Van de Werf, F.5    Wellens, H.J.6    Vos, M.A.7
  • 40
    • 78650393745 scopus 로고    scopus 로고
    • Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
    • Tartaglia, M., Gelb, B.D., Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann. N. Y. Acad. Sci. 1214 (2010), 99–121.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1214 , pp. 99-121
    • Tartaglia, M.1    Gelb, B.D.2
  • 42
    • 84876509620 scopus 로고    scopus 로고
    • Comparative analysis of targeted differentiation of human induced pluripotent stem cells (hiPSCs) and human embryonic stem cells reveals variability associated with incomplete transgene silencing in retrovirally derived hiPSC lines
    • Toivonen, S., Ojala, M., Hyysalo, A., Ilmarinen, T., Rajala, K., Pekkanen-Mattila, M., Aanismaa, R., Lundin, K., Palgi, J., Weltner, J., et al. Comparative analysis of targeted differentiation of human induced pluripotent stem cells (hiPSCs) and human embryonic stem cells reveals variability associated with incomplete transgene silencing in retrovirally derived hiPSC lines. Stem Cells Transl. Med. 2 (2013), 83–93.
    • (2013) Stem Cells Transl. Med. , vol.2 , pp. 83-93
    • Toivonen, S.1    Ojala, M.2    Hyysalo, A.3    Ilmarinen, T.4    Rajala, K.5    Pekkanen-Mattila, M.6    Aanismaa, R.7    Lundin, K.8    Palgi, J.9    Weltner, J.10
  • 45
    • 79952233533 scopus 로고    scopus 로고
    • MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation
    • Wu, X., Simpson, J., Hong, J.H., Kim, K.H., Thavarajah, N.K., Backx, P.H., Neel, B.G., Araki, T., MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J. Clin. Invest. 121 (2011), 1009–1025.
    • (2011) J. Clin. Invest. , vol.121 , pp. 1009-1025
    • Wu, X.1    Simpson, J.2    Hong, J.H.3    Kim, K.H.4    Thavarajah, N.K.5    Backx, P.H.6    Neel, B.G.7    Araki, T.8
  • 47
    • 84894160639 scopus 로고    scopus 로고
    • Engineering adolescence: maturation of human pluripotent stem cell-derived cardiomyocytes
    • Yang, X., Pabon, L., Murry, C.E., Engineering adolescence: maturation of human pluripotent stem cell-derived cardiomyocytes. Circ. Res. 114 (2014), 511–523.
    • (2014) Circ. Res. , vol.114 , pp. 511-523
    • Yang, X.1    Pabon, L.2    Murry, C.E.3
  • 48
    • 36549042578 scopus 로고    scopus 로고
    • Neurological complications of cardio-facio-cutaneous syndrome
    • Yoon, G., Rosenberg, J., Blaser, S., Rauen, K.A., Neurological complications of cardio-facio-cutaneous syndrome. Dev. Med. Child Neurol. 49 (2007), 894–899.
    • (2007) Dev. Med. Child Neurol. , vol.49 , pp. 894-899
    • Yoon, G.1    Rosenberg, J.2    Blaser, S.3    Rauen, K.A.4
  • 49
    • 84890794015 scopus 로고    scopus 로고
    • Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes
    • Zanella, F., Lyon, R.C., Sheikh, F., Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes. Trends Cardiovasc. Med. 24 (2014), 32–44.
    • (2014) Trends Cardiovasc. Med. , vol.24 , pp. 32-44
    • Zanella, F.1    Lyon, R.C.2    Sheikh, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.