ArticleGastroenterology2022
Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations.
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Article in Gastroenterology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
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16 citing papers in PubMed, 22 citations in OpenAlex.
- Single-cell transcriptomic comparison of the developing human fetal stomach and pluripotent stem cell-derived gastric organoids.Development (Cambridge, England) · 2026Article
- Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders.Frontiers in endocrinology · 2026Review
- Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.JCI insight · 2025Article
- Coordinated differentiation of human intestinal organoids with functional enteric neurons and vasculature.Cell stem cell · 2025Article
- Multifocal Insulinoma as the Unique Presenting Feature of Multiple Endocrine Neoplasia Type 1 in an Adolescent.Hormone research in paediatrics · 2025Article
- Research advances of the establishment and characterization ofFrontiers in microbiology · 2025Review
- Widening the phenotypic spectrum caused by pathogenicBMJ open diabetes research & care · 2024Article
- Enteroendocrine cells regulate intestinal homeostasis and epithelial function.Molecular and cellular endocrinology · 2024Review
- PDX1+ cell budding morphogenesis in a stem cell-derived islet spheroid system.Nature communications · 2024Article
- RFX6 regulates human intestinal patterning and function upstream of PDX1.Development (Cambridge, England) · 2024Article
- Organoids in endocrine and metabolic research: current and emerging applications.Nature reviews. Endocrinology · 2024Article
- Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.NPJ precision oncology · 2024Article
- Human intestinal organoids from Cronkhite-Canada syndrome patients reveal link between serotonin and proliferation.The Journal of clinical investigation · 2023Article
- Progress and Perspective of CRISPR-Cas9 Technology in Translational Medicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Review
- PDX-1: A Promising Therapeutic Target to Reverse Diabetes.Biomolecules · 2022Review
- CRISPR/Cas9 Genome-Editing Technology and Potential Clinical Application in Gastric Cancer.Genes · 2022Review
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Authors and funding
16 authors at 3 institutions in 1 country.
Mansa KrishnamurthyDivision of Endocrinology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Center for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Daniel O KecheleCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Taylor BrodaCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Xinghao ZhangCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Jacob R EnriquezCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Heather A McCauleyCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
J Guillermo SanchezCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Kyle McCrackenCenter for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Joseph PalermoDivision of Gastroenterology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Anas BerniehDivision of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Margaret H CollinsDivision of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Inas H ThomasDivision of Pediatric Endocrinology, University of Michigan, Ann Arbor, Michigan.
Haley C NeefDivision of Pediatric Gastroenterology, University of Michigan, Ann Arbor, Michigan.
Amer HeiderDivision of Pathology, University of Michigan, Ann Arbor, Michigan.
Andrew DauberDivision of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC.
James M WellsDivision of Endocrinology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Center for Stem Cell & Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio; Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: James.wells@cchmc.org.
Cincinnati Children's Hospital Medical Center · USUniversity of Michigan · USGeorge Washington University · US
Funding
Stem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4MProject-3: Modeling EA/TEF in human organoidsP01HD093363 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI Wendy K Chung, Paul scot Kingma · 2017 to 2026
$16.2MENVIRONMETAL CARCINOGENESIS AND MUTAGENESIST32ES007250 · NIEHS · UNIVERSITY OF CINCINNATI · PI MILLER, WILLIAM E · 1988 to 2024
$11.9MIntestinal Stem Cell Consortium Coordinating CenterU01DK085532 · NIDDK · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI NILAND, JOYCE CAROL · 2009 to 2018
$6.5MModeling diabetes using an integrated plate systemUH3DK119982 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI LEE, MOO-YEAL, WELLS, JAMES M · 2020 to 2022
$5.4MOrganoids as a Model System for Studying Gastrointestinal DiseaseU19AI116491 · NIAID · UNIVERSITY OF CINCINNATI · PI MOORE, SEAN RYAN · 2015 to 2019
$4.6MInvestigation of Regional Identity in Human Intestinal Stem CellsU01DK103117 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI HELMRATH, MICHAEL A. · 2014 to 2023
$4.0MLimited Competition for the Continuation of the Intestinal Stem Cell Consortium Coordinating CenterU24DK085532 · NIDDK · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI NILAND, JOYCE CAROL · 2019 to 2023
$2.3MHuman Endocrine Cell DevelopmentR01DK092456 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI WELLS, JAMES M · 2012 to 2016
$2.3MModeling diabetes using an integrated plate systemUG3DK119982 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI LEE, MOO-YEAL, WELLS, JAMES M · 2018 to 2019
$1.7MNIAID NIH HHS U19 AI116491NICHD NIH HHS P01 HD093363NIDDK NIH HHS P30 DK078392NIDDK NIH HHS R01 DK092456NIDDK NIH HHS U01 DK085532NIDDK NIH HHS U01 DK103117NIDDK NIH HHS U24 DK085532NIDDK NIH HHS UG3 DK119982NIDDK NIH HHS UH3 DK119982NIEHS NIH HHS T32 ES007250
Abstract
BACKGROUND &
aimsTwo patients with homozygous mutations in PDX1 presented with pancreatic agenesis, chronic diarrhea, and poor weight gain, the causes of which were not identified through routine clinical testing. We aimed to perform a deep analysis of the stomach and intestine using organoids derived from induced pluripotent stem cells from PDX1
methodsGastric fundic, antral, and duodenal organoids were generated using induced pluripotent stem cell lines from a PDX1
resultsPatient-derived PDX1
conclusionsThese patients will now be monitored for the progression of metaplasia and gastrointestinal complications that might be related to the reduced gastric and intestinal endocrine cells. This study demonstrates the utility of organoids in diagnosing uncovered pathologies.
Indexed as
Induced Pluripotent Stem CellsOrganoidsCell DifferentiationHumansMetaplasiaMutationStomachCRISPR/Cas9MetaplasiaOrganoidsPDX1
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