2022
DOI: 10.3390/ijms23010501
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Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction

Abstract: Pancreatic β cell dysfunction is a central component of diabetes progression. During the last decades, the genetic basis of several monogenic forms of diabetes has been recognized. Genome-wide association studies (GWAS) have also facilitated the identification of common genetic variants associated with an increased risk of diabetes. These studies highlight the importance of impaired β cell function in all forms of diabetes. However, how most of these risk variants confer disease risk, remains unanswered. Under… Show more

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Cited by 5 publications
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“…Undoubtedly, genetically modified animals will continue to be a powerful tool for elucidating human pathology. Nevertheless, recent human stem cell-derived beta cell research has provided new insights into the pathogenesis of diabetes caused by genetic variants in humans [ 5 ]. Here, we review the current understanding of HNF1A in multiple organs, including the pancreas, and discuss how HNF1A mutations contribute to the pathogenesis of diabetes, primarily focusing on beta cell dysfunction.…”
Section: Introductionmentioning
confidence: 99%
“…Undoubtedly, genetically modified animals will continue to be a powerful tool for elucidating human pathology. Nevertheless, recent human stem cell-derived beta cell research has provided new insights into the pathogenesis of diabetes caused by genetic variants in humans [ 5 ]. Here, we review the current understanding of HNF1A in multiple organs, including the pancreas, and discuss how HNF1A mutations contribute to the pathogenesis of diabetes, primarily focusing on beta cell dysfunction.…”
Section: Introductionmentioning
confidence: 99%