Scientists identified a homozygous stop-gain mutations in DSG2 that led to complete desmoglein-2 deficiency in a patient with severe biventricular heart failure. Induced pluripotent stem cells were generated from the patient, and the mutated DSG2 gene locus was heterozygously corrected to a normal allele via homology-directed repair.
[Human Molecular Genetics]
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Shiba, M., Higo, S., Kondo, T., Li, J., Liu, L., Ikeda, Y., Kohama, Y., Kameda, S., Tabata, T., Inoue, H., Nakamura, S., Takeda, M., Ito, E., Takashima, S., Miyagawa, S., Sawa, Y., Hikoso, S., & Sakata, Y. (2021). Phenotypic Recapitulation and Correction of Desmoglein-2-deficient Cardiomyopathy using Human Induced Pluripotent Stem Cell-derived Cardiomyocytes. Human Molecular Genetics, ddab127. https://doi.org/10.1093/hmg/ddab127 Cite
Induced pluripotent stem cell-derived endothelial cells generated from six patients with pulmonary arterial hypertension were exposed to 4500 compounds and assayed for improved cell survival after serum withdrawal using a chemiluminescent caspase assay.
[Science Translational Medicine]
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Gu, M., Donato, M., Guo, M., Wary, N., Miao, Y., Mao, S., Saito, T., Otsuki, S., Wang, L., Harper, R. L., Sa, S., Khatri, P., & Rabinovitch, M. (2021). iPSC–endothelial cell phenotypic drug screening and in silico analyses identify tyrphostin-AG1296 for pulmonary arterial hypertension. Science Translational Medicine, 13(592). https://doi.org/10.1126/scitranslmed.aba6480 Cite
Scientists synthesize evidence illustrating how common cancer therapeutic agents, such as anthracyclines, human epidermal growth factors receptors monoclonal antibodies, and tyrosine kinase inhibitors, have been evaluated in cardiomyocytes derived from human-induced pluripotent stem cells to understand the underlying mechanisms of cardiovascular toxicity.
[Current Oncology Report]
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Perry, T. R., Roberts, M. L., Sunkara, B., Maddula, R., McLeish, T., Gomez, J., Lucas, J., Rayan, D., Patel, S., Liang, M., Bosnjak, Z. J., & Brown, S.-A. (2021). Modeling Precision Cardio-Oncology: Using Human-Induced Pluripotent Stem Cells for Risk Stratification and Prevention. Current Oncology Reports, 23(7), 77. https://doi.org/10.1007/s11912-021-01066-2 Cite
Scientists report the suppression of cell viability and autophagic flux, as shown by autophagosomes accumulation and increased expression level of LC3-II and p62 in cultured H9C2 and human AC16 cells treated with 400 μM palmitate acid for 24 h.
[Cell Death & Disease]
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Researchers suggest that HHIP repressed aerobic glycolysis and airway smooth muscle cells hyperplasia, which might contribute to the increased airway remodeling in Hhip+/- mice.
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Li, Y., Zhang, L., Polverino, F., Guo, F., Hao, Y., Lao, T., Xu, S., Li, L., Pham, B., Owen, C. A., & Zhou, X. (2021). Hedgehog interacting protein (HHIP) represses airway remodeling and metabolic reprogramming in COPD-derived airway smooth muscle cells. Scientific Reports, 11(1), 9074. https://doi.org/10.1038/s41598-021-88434-x Cite
The authors focus on the newly recognized and potentially important RhoA/ROCK-MYOCD/MRTFs pathway in controlling airway smooth muscle growth and remodeling.
[American Journal of Physiology-Lung Cellular and Molecular Physiology]
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Rho/ROCK-MYOCD in regulating airway smooth muscle growth and remodeling | American Journal of Physiology-Lung Cellular and Molecular Physiology. (n.d.). Retrieved May 3, 2021, from https://journals.physiology.org/doi/abs/10.1152/ajplung.00034.2021?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org Cite
Researchers suggest that KCNQ1OT1 and its target gene miR-181a-5p regulated myocardial inflammation and cardiomyocyte apoptosis by modulating PDCD4 in diabetic cardiomyopathy.
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Long non-coding RNA KCNQ1OT1 increases the expression of PDCD4 by targeting miR-181a-5p, contributing to cardiomyocyte apoptosis in diabetic cardiomyopathy | SpringerLink. (n.d.). Retrieved May 3, 2021, from https://link.springer.com/article/10.1007%2Fs00592-021-01713-x Cite
Research shows that mature amyloid fibrils, amorphous aggregates, and oligomers—products of the initial stage of amyloid aggregation—are toxic. The authors investigated the action of amorphous amyloid aggregates of titin on cells.
[International Journal of Molecular Sciences]
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Investigators used carotid balloon injury model and platelet‐derived growth factor‐BB‐treated vascular smooth muscle cells as in vivo and in vitro experimental models.
[Journal of Cellular Physiology]
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Zheng, H., Zhai, W., Zhong, C., Hong, Q., Li, H., Rui, B., Zhu, X., Que, D., Feng, L., Yu, B., Huang, G., Yin, J., Li, J., Yan, J., & Yang, P. (n.d.). Nkx2-3 induces autophagy inhibiting proliferation and migration of vascular smooth muscle cells via AMPK/mTOR signaling pathway. Journal of Cellular Physiology, n/a(n/a). https://doi.org/https://doi.org/10.1002/jcp.30400 Cite
Scientists developed nucleotide gene editing correction strategies to restore dystrophin expression in mice and human cardiomyocytes harboring a deletion of exon 51 of the duchenne muscular dystrophy gene.
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Chemello, F., Chai, A. C., Li, H., Rodriguez-Caycedo, C., Sanchez-Ortiz, E., Atmanli, A., Mireault, A. A., Liu, N., Bassel-Duby, R., & Olson, E. N. (2021). Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing. Science Advances, 7(18), eabg4910. https://doi.org/10.1126/sciadv.abg4910 Cite
Motor function was analyzed by three behavioral tests. Engraftment of human amniotic fluid stem cell in organs were assessed by flow cytometry and RNA scope.
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Shaw, S. W., Peng, S.-Y., Liang, C.-C., Lin, T.-Y., Cheng, P.-J., Hsieh, T.-T., Chuang, H.-Y., De Coppi, P., & David, A. L. (2021). Prenatal transplantation of human amniotic fluid stem cell could improve clinical outcome of type III spinal muscular atrophy in mice. Scientific Reports, 11(1), 9158. https://doi.org/10.1038/s41598-021-88559-z Cite