ArticleCell stem cell2020
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.
Article in Cell stem cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Bioengineering Pancreatic Organoids and iPSC-Derived β-Cells for Diabetes: Materials, Devices, and Translational Challenges.Bioengineering (Basel, Switzerland) · 2026Review
- Children With Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.The Journal of clinical endocrinology and metabolism · 2026Article
- Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024Review
- Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases.Nature genetics · 2024Article
- Functional analysis of a common BAG3 allele associated with protection from heart failure.Nature cardiovascular research · 2023Article
- Single-nucleus multi-omics of human stem cell-derived islets identifies deficiencies in lineage specification.Nature cell biology · 2023Article
- Review
- Toward Precision Medicine with Human Pluripotent Stem Cells for Diabetes.Stem cells translational medicine · 2022Review
- Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.International journal of molecular sciences · 2022Review
- Leveraging the strengths of mice, human stem cells, and organoids to model pancreas development and diabetes.Frontiers in endocrinology · 2022Review
- Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Frontiers in genetics · 2022Review
- Genetic Engineering of Immune Evasive Stem Cell-Derived Islets.Transplant international : official journal of the European Society for Organ Transplantation · 2022Review
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Applications of iPSC-derived beta cells from patients with diabetes.Cell reports. Medicine · 2021Review
- Genome Editing Human Pluripotent Stem Cells to Model β-Cell Disease and Unmask Novel Genetic Modifiers.Frontiers in endocrinology · 2021Review
- Monogenic Diabetes Modeling:Frontiers in endocrinology · 2021Review
- Gene Editing in Pluripotent Stem Cells and Their Derived Organoids.Stem cells international · 2021Review
- GATA6-AS1 Regulates GATA6 Expression to Modulate Human Endoderm Differentiation.Stem cell reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
GATA6 is a critical regulator of pancreatic development, with heterozygous mutations in this transcription factor being the most common cause of pancreatic agenesis. To study the variability in disease phenotype among individuals harboring these mutations, a patient-induced pluripotent stem cell model was used. Interestingly, GATA6 protein expression remained depressed in pancreatic progenitor cells even after correction of the coding mutation. Screening the regulatory regions of the GATA6 gene in these patient cells and 32 additional agenesis patients revealed a higher minor allele frequency of a SNP 3' of the GATA6 coding sequence. Introduction of this minor allele SNP by genome editing confirmed its functionality in depressing GATA6 expression and the efficiency of pancreas differentiation. This work highlights a possible genetic modifier contributing to pancreatic agenesis and demonstrates the usefulness of using patient-induced pluripotent stem cells for targeted discovery and validation of non-coding gene variants affecting gene expression and disease penetrance.
Indexed as
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What OpenQuestion holds
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.