ArticleMolecular metabolism2019
Point mutations in the PDX1 transactivation domain impair human β-cell development and function.
Article in Molecular metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 83 citations in OpenAlex.
- A Phase II Study of the Efficacy and Safety of Oral Selinexor in Recurrent Glioblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Trial
- Integrated Computational Analysis Reveals Structurally Destabilizing Missense Variants in theGenes · 2026Article
- PDX1 phosphorylation at S61 by mTORC1 links nutrient signaling to β cell function and metabolic disease.Cell reports · 2026Article
- Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders.Frontiers in endocrinology · 2026Review
- Epigallocatechin gallate improves insulin sensitivity in rats experiencing catch-up growth after being small for gestational age by upregulating PDX1 expression.Translational pediatrics · 2025Article
- Modeling Genetic Risk of β-Cell Dysfunction in Human Induced Pluripotent Stem Cells From Patients Carrying the MTNR1B Risk Variant.Journal of pineal research · 2025Article
- Type 2 diabetes mellitus - conventional therapies and future perspectives in innovative treatment.Biochemistry and biophysics reports · 2025Review
- Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.Human genome variation · 2025Article
- Organoids: their emerging essential role in pathological mechanisms and drug discovery of diabetes and its complications.Frontiers in pharmacology · 2025Review
- Associations of non-high-density lipoprotein cholesterol to high-density lipoprotein cholesterol ratio with diabetes and prediabetes among adults with hypertension: a cross-sectional study.Frontiers in endocrinology · 2025Article
- MODY PDX1Frontiers in endocrinology · 2025Article
- Pancreatic agenesis and altered m6A methylation in the pancreas of PDX1-mutant cynomolgus macaques.Zoological research · 2024Article
- Unlocking the therapeutic potential: odyssey of induced pluripotent stem cells in precision cell therapies.International journal of surgery (London, England) · 2024Review
- Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.International journal of molecular sciences · 2024Review
- CRISPR screening uncovers a long-range enhancer for ONECUT1 in pancreatic differentiation and links a diabetes risk variant.Cell reports · 2024Article
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- TGF-β modulates cell fate in human ES cell-derived foregut endoderm by inhibiting Wnt and BMP signaling.Stem cell reports · 2024Article
- High-density lipoprotein in diabetes: Structural and functional relevance.Journal of diabetes investigation · 2024Review
- Modelling human diabetesFrontiers in endocrinology · 2024Review
- What Do We Know about Neonatal Diabetes caused byCurrent diabetes reviews · 2024Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHundreds of missense mutations in the coding region of PDX1 exist; however, if these mutations predispose to diabetes mellitus is unknown.
methodsIn this study, we screened a large cohort of subjects with increased risk for diabetes and identified two subjects with impaired glucose tolerance carrying common, heterozygous, missense mutations in the PDX1 coding region leading to single amino acid exchanges (P33T, C18R) in its transactivation domain. We generated iPSCs from patients with heterozygous PDX1
resultsUsing an in vitro β-cell differentiation protocol, we demonstrated that both, heterozygous PDX1
conclusionsOur results reveal mechanistic details of how common coding mutations in PDX1 impair human pancreatic endocrine lineage formation and β-cell function and contribute to the predisposition for diabetes.
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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.