-
1
-
-
84883163817
-
Dilated cardiomyopathy: The complexity of a diverse genetic architecture
-
Hershberger, R. E., Hedges, D. J. & Morales, A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat. Rev. Cardiol. 10, 531-547 (2013).
-
(2013)
Nat. Rev. Cardiol.
, vol.10
, pp. 531-547
-
-
Hershberger, R.E.1
Hedges, D.J.2
Morales, A.3
-
2
-
-
77952158022
-
The genetics of dilated cardiomyopathy
-
Dellefave, L. & McNally, E. M. The genetics of dilated cardiomyopathy. Curr. Opin. Cardiol. 25, 198-204 (2010).
-
(2010)
Curr. Opin. Cardiol.
, vol.25
, pp. 198-204
-
-
Dellefave, L.1
McNally, E.M.2
-
3
-
-
0037470512
-
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
-
Schmitt, J. P. et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299, 1410-1413 (2003).
-
(2003)
Science
, vol.299
, pp. 1410-1413
-
-
Schmitt, J.P.1
-
4
-
-
85047687537
-
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
-
Haghighi, K. et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111, 869-876 (2003).
-
(2003)
J. Clin. Invest.
, vol.111
, pp. 869-876
-
-
Haghighi, K.1
-
5
-
-
31944450889
-
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy
-
Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl Acad. Sci. USA 103, 1388-1393 (2006).
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 1388-1393
-
-
Haghighi, K.1
-
6
-
-
84878318267
-
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: Overview of 10 years' experience
-
van Spaendonck-Zwarts, K. Y. et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur. J. Heart Fail. 15, 628-636 (2013).
-
(2013)
Eur. J. Heart Fail.
, vol.15
, pp. 628-636
-
-
Van Spaendonck-Zwarts, K.Y.1
-
7
-
-
0038464639
-
Phospholamban: A crucial regulator of cardiac contractility
-
MacLennan, D. H. & Kranias, E. G. Phospholamban: a crucial regulator of cardiac contractility. Nat. Rev. Mol. Cell Biol. 4, 566-577 (2003).
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 566-577
-
-
MacLennan, D.H.1
Kranias, E.G.2
-
8
-
-
62549090164
-
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes
-
Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, 480-486 (2009).
-
(2009)
Heart Rhythm
, vol.6
, pp. 480-486
-
-
Posch, M.G.1
-
9
-
-
84867736080
-
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy
-
van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 14, 1199-1207 (2012).
-
(2012)
Eur. J. Heart Fail.
, vol.14
, pp. 1199-1207
-
-
Van Der Zwaag, P.A.1
-
10
-
-
84857637211
-
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase
-
Haghighi, K. et al. The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. J. Mol. Cell Cardiol. 52, 773-782 (2012).
-
(2012)
J. Mol. Cell Cardiol.
, vol.52
, pp. 773-782
-
-
Haghighi, K.1
-
11
-
-
33748950069
-
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
-
DeWitt, M. M., MacLeod, H. M., Soliven, B. & McNally, E. M. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, 1396-1398 (2006).
-
(2006)
J. Am. Coll. Cardiol.
, vol.48
, pp. 1396-1398
-
-
Dewitt, M.M.1
MacLeod, H.M.2
Soliven, B.3
McNally, E.M.4
-
12
-
-
84878225366
-
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
-
van der Zwaag, P. A. et al. Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth. Heart J. 21, 286-293 (2013).
-
(2013)
Neth. Heart J.
, vol.21
, pp. 286-293
-
-
Van Der Zwaag, P.A.1
-
13
-
-
77957729169
-
Patient-specific induced pluripotent stem-cell models for long-QT syndrome
-
Moretti, A. et al. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N. Engl. J. Med. 363, 1397-1409 (2010).
-
(2010)
N. Engl. J. Med.
, vol.363
, pp. 1397-1409
-
-
Moretti, A.1
-
14
-
-
84865254838
-
Disease characterization using LQTS-specific induced pluripotent stem cells
-
Egashira, T. et al. Disease characterization using LQTS-specific induced pluripotent stem cells. Cardiovasc. Res. 95, 419-429 (2012).
-
(2012)
Cardiovasc. Res.
, vol.95
, pp. 419-429
-
-
Egashira, T.1
-
15
-
-
84858040591
-
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture
-
Lahti, A. L. et al. Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. Dis. Model Mech. 5, 220-230 (2012).
-
(2012)
Dis. Model Mech.
, vol.5
, pp. 220-230
-
-
Lahti, A.L.1
-
16
-
-
79954523845
-
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation
-
Matsa, E. et al. Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. Eur. Heart J. 32, 952-962 (2011).
-
(2011)
Eur. Heart J.
, vol.32
, pp. 952-962
-
-
Matsa, E.1
-
17
-
-
79952446402
-
Modelling the long QT syndrome with induced pluripotent stem cells
-
Itzhaki, I. et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature 471, 225-229 (2011).
-
(2011)
Nature
, vol.471
, pp. 225-229
-
-
Itzhaki, I.1
-
18
-
-
84863213874
-
Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease
-
Davis, R. P. et al. Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease. Circulation 125, 3079-3091 (2012).
-
(2012)
Circulation
, vol.125
, pp. 3079-3091
-
-
Davis, R.P.1
-
19
-
-
79952438377
-
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
-
Yazawa, M. et al. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature 471, 230-234 (2011).
-
(2011)
Nature
, vol.471
, pp. 230-234
-
-
Yazawa, M.1
-
20
-
-
83755195408
-
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells
-
Fatima, A. et al. In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cell Physiol. Biochem. 28, 579-592 (2011).
-
(2011)
Cell Physiol. Biochem.
, vol.28
, pp. 579-592
-
-
Fatima, A.1
-
21
-
-
84858129398
-
Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia
-
Jung, C. B. et al. Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol. Med. 4, 180-191 (2012).
-
(2012)
EMBO Mol. Med.
, vol.4
, pp. 180-191
-
-
Jung, C.B.1
-
22
-
-
84857547828
-
Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to beta-adrenergic stimulation
-
Novak, A. et al. Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to beta-adrenergic stimulation. J. Cell Mol. Med. 16, 468-482 (2012).
-
(2012)
J. Cell Mol. Med.
, vol.16
, pp. 468-482
-
-
Novak, A.1
-
23
-
-
84874741888
-
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
-
Kim, C. et al. Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. Nature 494, 105-110 (2013).
-
(2013)
Nature
, vol.494
, pp. 105-110
-
-
Kim, C.1
-
24
-
-
84872026086
-
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells
-
Lan, F. et al. Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. Cell Stem Cell 12, 101-113 (2013).
-
(2013)
Cell Stem Cell
, vol.12
, pp. 101-113
-
-
Lan, F.1
-
25
-
-
84905719998
-
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells
-
Lee, Y. K. et al. Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells. Pflugers Arch. 466, 1831-1844 (2014).
-
(2014)
Pflugers Arch.
, vol.466
, pp. 1831-1844
-
-
Lee, Y.K.1
-
26
-
-
84907187465
-
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy
-
Sun, N. et al. Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci. Transl. Med. 4, 130ra147 (2012).
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 130ra147
-
-
Sun, N.1
-
27
-
-
84905161777
-
Modeling CVD in human pluripotent cells by genome editing
-
Hajjar, R. J. & Hulot, J. S. Modeling CVD in human pluripotent cells by genome editing. J. Am. Coll. Cardiol. 64, 460-462 (2014).
-
(2014)
J. Am. Coll. Cardiol.
, vol.64
, pp. 460-462
-
-
Hajjar, R.J.1
Hulot, J.S.2
-
28
-
-
77958536106
-
Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA
-
Warren, L. et al. Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 7, 618-630 (2010).
-
(2010)
Cell Stem Cell
, vol.7
, pp. 618-630
-
-
Warren, L.1
-
29
-
-
79551677421
-
Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines
-
Bock, C. et al. Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell 144, 439-452 (2011).
-
(2011)
Cell
, vol.144
, pp. 439-452
-
-
Bock, C.1
-
30
-
-
84892752194
-
Small molecule-mediated directed differentiation of human embryonic stem cells toward ventricular cardiomyocytes
-
Karakikes, I. et al. Small molecule-mediated directed differentiation of human embryonic stem cells toward ventricular cardiomyocytes. Stem Cells Transl. Med. 3, 18-31 (2014).
-
(2014)
Stem Cells Transl. Med.
, vol.3
, pp. 18-31
-
-
Karakikes, I.1
-
31
-
-
0038464639
-
Phospholamban: A crucial regulator of cardiac contractility
-
MacLennan, D. H. & Kranias, E. G. Phospholamban: a crucial regulator of cardiac contractility. Nat. Rev. Mol. Cell Biol. 4, 566-577 (2003).
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 566-577
-
-
MacLennan, D.H.1
Kranias, E.G.2
-
32
-
-
79952264847
-
Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells
-
Lister, R. et al. Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells. Nature 471, 68-73 (2011).
-
(2011)
Nature
, vol.471
, pp. 68-73
-
-
Lister, R.1
-
33
-
-
79551685675
-
A TALE nuclease architecture for efficient genome editing
-
Miller, J. C. et al. A TALE nuclease architecture for efficient genome editing. Nat. Biotechnol. 29, 143-148 (2011).
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 143-148
-
-
Miller, J.C.1
-
34
-
-
77957754251
-
A rapid and general assay for monitoring endogenous gene modification
-
Guschin, D. Y. et al. A rapid and general assay for monitoring endogenous gene modification. Methods Mol. Biol. 649, 247-256 (2010).
-
(2010)
Methods Mol. Biol.
, vol.649
, pp. 247-256
-
-
Guschin, D.Y.1
-
35
-
-
84904010334
-
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing
-
Veres, A. et al. Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. Cell Stem Cell 15, 27-30 (2014).
-
(2014)
Cell Stem Cell
, vol.15
, pp. 27-30
-
-
Veres, A.1
-
36
-
-
84903942097
-
Targeted gene correction minimally impacts whole-genome mutational load in human-disease-specific induced pluripotent stem cell clones
-
Suzuki, K. et al. Targeted gene correction minimally impacts whole-genome mutational load in human-disease-specific induced pluripotent stem cell clones. Cell Stem Cell 15, 31-36 (2014).
-
(2014)
Cell Stem Cell
, vol.15
, pp. 31-36
-
-
Suzuki, K.1
-
37
-
-
84903943282
-
Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs
-
Smith, C. et al. Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs. Cell Stem Cell 15, 12-13 (2014).
-
(2014)
Cell Stem Cell
, vol.15
, pp. 12-13
-
-
Smith, C.1
-
38
-
-
78751687308
-
Molecular characterization and functional properties of cardiomyocytes derived from human inducible pluripotent stem cells
-
Germanguz, I. et al. Molecular characterization and functional properties of cardiomyocytes derived from human inducible pluripotent stem cells. J. Cell Mol. Med. 15, 38-51 (2011).
-
(2011)
J. Cell Mol. Med.
, vol.15
, pp. 38-51
-
-
Germanguz, I.1
-
39
-
-
84996598491
-
Effectiveness of gene delivery systems for pluripotent and differentiated cells
-
Rapti, K. et al. Effectiveness of gene delivery systems for pluripotent and differentiated cells. Mol. Ther. 2, 14067; doi:10.1038/mtm.2014.67 (2015).
-
(2015)
Mol. Ther.
, vol.2
, pp. 14067
-
-
Rapti, K.1
-
40
-
-
42949094597
-
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids
-
Haghighi, K. et al. A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. Hum. Mutat. 29, 640-647 (2008).
-
(2008)
Hum. Mutat.
, vol.29
, pp. 640-647
-
-
Haghighi, K.1
-
41
-
-
84905157663
-
Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing
-
Wang, Y. et al. Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing. J. Am. Coll. Cardiol. 64, 451-459 (2014).
-
(2014)
J. Am. Coll. Cardiol.
, vol.64
, pp. 451-459
-
-
Wang, Y.1
-
42
-
-
84902087268
-
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
-
Wang, G. et al. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat. Med. 20, 616-623 (2014).
-
(2014)
Nat. Med.
, vol.20
, pp. 616-623
-
-
Wang, G.1
-
43
-
-
84885676191
-
Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy
-
Jiang, J., Wakimoto, H., Seidman, J. G. & Seidman, C. E. Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science 342, 111-114 (2013).
-
(2013)
Science
, vol.342
, pp. 111-114
-
-
Jiang, J.1
Wakimoto, H.2
Seidman, J.G.3
Seidman, C.E.4
-
44
-
-
84922591846
-
Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice
-
Mearini, G. et al. Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice. Nat. Commun. 5, 5515 (2014).
-
(2014)
Nat. Commun.
, vol.5
, pp. 5515
-
-
Mearini, G.1
-
45
-
-
33746392927
-
Feeder-independent culture of human embryonic stem cells
-
Ludwig, T. E. et al. Feeder-independent culture of human embryonic stem cells. Nat. Methods 3, 637-646 (2006).
-
(2006)
Nat. Methods
, vol.3
, pp. 637-646
-
-
Ludwig, T.E.1
-
46
-
-
84892752194
-
Small molecule-mediated directed differentiation of human embryonic stem cells toward ventricular cardiomyocytes
-
Karakikes, I. et al. Small molecule-mediated directed differentiation of human embryonic stem cells toward ventricular cardiomyocytes. Stem Cells Transl. Med. 3, 18-31 (2013).
-
(2013)
Stem Cells Transl. Med.
, vol.3
, pp. 18-31
-
-
Karakikes, I.1
-
47
-
-
79960836456
-
Genetic engineering of human pluripotent cells using TALE nucleases
-
Hockemeyer, D. et al. Genetic engineering of human pluripotent cells using TALE nucleases. Nat. Biotechnol. 29, 731-734 (2011).
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 731-734
-
-
Hockemeyer, D.1
-
48
-
-
0348038748
-
Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo
-
Wang, Z. et al. Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther. 10, 2105-2111 (2003).
-
(2003)
Gene Ther.
, vol.10
, pp. 2105-2111
-
-
Wang, Z.1
-
49
-
-
0038150506
-
Helper virus-free, optically controllable, and two-plasmid-based production of adeno-associated virus vectors of serotypes 1 to 6
-
Grimm, D., Kay, M. A. & Kleinschmidt, J. A. Helper virus-free, optically controllable, and two-plasmid-based production of adeno-associated virus vectors of serotypes 1 to 6. Mol. Ther. 7, 839-850 (2003).
-
(2003)
Mol. Ther.
, vol.7
, pp. 839-850
-
-
Grimm, D.1
Kay, M.A.2
Kleinschmidt, J.A.3
-
50
-
-
33751113540
-
Design of expression vectors for RNA interference based on miRNAs and RNA splicing
-
Du, G., Yonekubo, J., Zeng, Y., Osisami, M. & Frohman, M. A. Design of expression vectors for RNA interference based on miRNAs and RNA splicing. FEBS J. 273, 5421-5427 (2006).
-
(2006)
FEBS J.
, vol.273
, pp. 5421-5427
-
-
Du, G.1
Yonekubo, J.2
Zeng, Y.3
Osisami, M.4
Frohman, M.A.5
|