ArticleInternational journal of molecular sciences2022
Aberrant Splicing of
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Insulin gene-modified 3D stem cells for enhanced islet regeneration and systemic reversal of type 1 diabetes.Stem cells translational medicine · 2026Article
- Pancreatic organoids and organoid-on-a-chip platforms: from disease modeling to precision therapy.Journal of translational medicine · 2026Review
- SOX9: dosage- and context-dependent functions in pancreatic development and β-cell biology.Cell communication and signaling : CCS · 2026Review
- Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders.Frontiers in endocrinology · 2026Review
- Global research dynamics in the induced pluripotent stem cell and diabetes: A bibliometric analysis of the past twenty years.Regenerative therapy · 2025Article
- Integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D-associated genes and regulatory signals.Cell reports · 2025Article
- Organoids: their emerging essential role in pathological mechanisms and drug discovery of diabetes and its complications.Frontiers in pharmacology · 2025Review
- Recent progress in modeling and treating diabetes using stem cell-derived islets.Stem cells translational medicine · 2024Review
- Mesodermal Derivatives of Pluripotent Stem Cells Route to Scarless Healing.International journal of molecular sciences · 2023Review
- Towards a better understanding of diabetes mellitus using organoid models.Nature reviews. Endocrinology · 2023Review
- Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.Biomolecules · 2023Review
- Gene editing strategies to address current challenges in stem cell-derived β cell therapy for type 1 Diabetes.Journal of tissue engineeringReview
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
One of the causes of diabetes in infants is the defect of the insulin gene (INS). Gene mutations can lead to proinsulin misfolding, an increased endoplasmic reticulum (ER) stress and possible beta-cell apoptosis. In humans, the mechanisms underlying beta-cell failure remain unclear. We generated induced pluripotent stem cells (iPSCs) from a patient diagnosed with neonatal diabetes mellitus carrying the INS mutation in the 2nd intron (c.188-31G>A) and engineered isogenic CRISPR/Cas9 mutation-corrected cell lines. Differentiation into beta-like cells demonstrated that mutation led to the emergence of an ectopic splice site within the INS and appearance of the abnormal RNA transcript. Isogenic iPSC lines differentiated into beta-like cells showed a clear difference in formation of organoids at pancreatic progenitor stage of differentiation. Moreover, MIN6 insulinoma cell line expressing mutated cDNA demonstrated significant decrease in proliferation capacity and activation of ER stress and unfolded protein response (UPR)-associated genes. These findings shed light on the mechanism underlying the pathogenesis of monogenic diabetes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.