Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy

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Term Occurence Count Dictionary
lipodystrophy 2 endocrinologydiseases
pravastatin 1 endocrinologydiseasesdrugs
progeria 8 endocrinologydiseases

Graph of close proximity drug and disease terms (within 200 characters).

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Select Drug Character Offset Drug Term Instance
pravastatin 21451 with HGPS. They trialed a farnesyltransferase inhibitor in combination with a statin (zoledronate and pravastatin ), and the macrolide antibiotic rapamycin. This study revealed that a systematic cytostatic effect was
Select Disease Character Offset Disease Term Instance
lipodystrophy 3342 muscular dystrophy (EDMD), limb girdle muscular dystrophy 1B (LGMD1B), Dunnigan-type familial partial lipodystrophy , a recessive axonal form of Charcot–Marie–Tooth neuropathy, and mandibuloacral dysplasia. However,
lipodystrophy 8065 between mutated prelamin A accumulation and the severity of the phenotypes in homozygous familial partial lipodystrophy type 2 patients who harbor the LMNA T655fsX49 mutation [[18]] (Table 1).Table 1Phenotype of the mutated
progeria 520 lamin A/C or failure in prelamin A processing, and leads to accumulation of the misfold protein causing progeria . The resultant disrupted lamin function is highly associated with abnormal nuclear architecture, cell
progeria 2848 diseases, collectively referred to as “laminopathies” [[2]–[4]]. These include Hutchinson Gilford progeria syndrome (HGPS, premature aging syndrome) caused by a truncated splicing mutation of the LMNA gene,
progeria 9325 [54]–[56]]AV atrioventricular, CMC cardiomyocyte, DCM dilated cardiomyopathy, HGPS Hutchinson Gilford progeria syndrome, iPSC induced pluripotent stem cellAnimal models of cardiac laminopathyTo provide initial insight
progeria 13039 of pharmacological treatment on targeted pathways affected by laminopathy. HGPS Hutchinson Gilford progeria syndrome, MAPK mitogen-activated protein kinase, MEK1 MAPK–extracellular signal-regulated kinase-1Development
progeria 19331 studies to understand the disease mechanism, drug screening, and interventions. HGPS Hutchinson Gilford progeria syndrome, miR microRNA, MLK Mixed-lineage kinases. [[57], [58]]In 2011, Liu et al. [[42]] began to use
progeria 20720 phenotypes of HGPS in mesenchymal lineages and SMCs [[42], [43]]. Ho et al. as well as Liu et al. generated progeria iPSCs from skin fibroblasts of a patient bearing a mutation in LMNA [[42], [44]]. They proved that the
progeria 25066 the dissected disease causal target for drug discovery [[47]].In fact, somatic reprogramming of the progeria patient-specific cell to a human iPSC is not an easy task with the considerable drawback of low efficiency
progeria 30457 may become a powerful surrogate marker for evaluating rejuvenation therapies for drug screening in progeria or laminopathy diseases

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