2012
DOI: 10.18632/aging.100503
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Abstract: AIMSWe identified an autosomal dominant non-sense mutation (R225X) in exon 4 of the lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated cardiomyopathy (DCM). In present study, we aim to generate induced pluripotent stem cells derived cardiomyocytes (iPSC-CMs) from an affected patient with R225X and another patient bearing LMNA frame-shift mutation for drug screening.METHODS and RESULTSHigher prevalence of nuclear bleb formation and micronucleation was present in LMNAR225X/WT … Show more

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Cited by 114 publications
(119 citation statements)
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References 46 publications
(119 reference statements)
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“…Reduced levels of lamin A are associated with increased expression of pluripotent genes Oct4 and Nanog, and of telomerase genes Tert and Terc [464]. As progeroid syndromes affected mainly cells from mesenchymal lineage, HGPS iPSC have been differentiated into several derivates from mesenchymal stem cells [465], cardiomyocytes [466] and adipocytes, whose differentiation is impaired through the inhibition by progerin of two transcription factors, PPAR␥2 and C/EBP␣ active at late stage [467]. HGPS iPSC were also differentiated into neural cells [465], where miR-9 negatively controls lamin A and progerin expression [287].…”
Section: Induced Pluripotent Stem Cells (Ipsc)mentioning
confidence: 99%
“…Reduced levels of lamin A are associated with increased expression of pluripotent genes Oct4 and Nanog, and of telomerase genes Tert and Terc [464]. As progeroid syndromes affected mainly cells from mesenchymal lineage, HGPS iPSC have been differentiated into several derivates from mesenchymal stem cells [465], cardiomyocytes [466] and adipocytes, whose differentiation is impaired through the inhibition by progerin of two transcription factors, PPAR␥2 and C/EBP␣ active at late stage [467]. HGPS iPSC were also differentiated into neural cells [465], where miR-9 negatively controls lamin A and progerin expression [287].…”
Section: Induced Pluripotent Stem Cells (Ipsc)mentioning
confidence: 99%
“…Interestingly, drugs inhibiting the MAPK pathway (MEK1 and MEK2) improve cardiac function and prolong survival of LMNA H222P/H222P mice (Wu et al, 2011). In support for this, MAPK inhibitors protect induced pluripotent stem cell (iPSC)-derived cultured LMNA R225X/WT cardiomyocytes from apoptosis after electrical stimulation (Siu et al, 2012). Furthermore, LMNA N195K/N195K mice develop DCM and show alterations in cytoskeletal protein structure and focal adhesions as well as impairment of nuclear translocation and signaling downstream of the mechanosensitive transcription factor megakaryoblastic leukaemia 1 (MKL1) (Ho et al, 2013).…”
Section: Introductionmentioning
confidence: 95%
“…80, 81 Most recently, DCMs due to mutations that truncate the massive sarcomere protein titin (TTNtvs) were modeled using hiPSC-derived 3-dimensional cardiac microtissues (CMTs), which had the advantage of yielding more mature cardiac phenotypes than a monolayer of hiPSC-CMs. 105 In this study, patient-derived CMTs with TTNtvs developed sarcomere insufficiency, impaired contractile response to mechanical or beta-adrenergic stress, as well as attenuated growth factor signaling activation.…”
Section: Disease Modeling Using Patient-specific Hipsc Derivativesmentioning
confidence: 99%