ArticleHuman molecular genetics2014
Loss of MITF expression during human embryonic stem cell differentiation disrupts retinal pigment epithelium development and optic vesicle cell proliferation.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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.
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Who cites it
38 citing papers in PubMed, 73 citations in OpenAlex.
- Retinal organoids: current status of development and new avenues for application in disease modeling, drug discovery and therapeutics.International journal of retina and vitreous · 2026Review
- Article
- Loss of 18q Alters TGFβ Signalling Affecting Anteroposterior Neuroectodermal Fate in Human Embryonic Stem Cells.Cell proliferation · 2025Article
- Bioelectronic Interfaces and Sensors for Neural Organoids.Microsystems & nanoengineering · 2025Review
- Retina-specific laminin-based generation of photoreceptor progenitors from human pluripotent stem cells under xeno-free and chemically defined conditions.Nature protocols · 2025Review
- Single-cell transcriptomics reveals the molecular basis of human iPS cell differentiation into ectodermal ocular lineages.Communications biology · 2024Article
- Article
- Application of Human Stem Cell Derived Retinal Organoids in the Exploration of the Mechanisms of Early Retinal Development.Stem cell reviews and reports · 2023Review
- Lactate-dependent transcriptional regulation controls mammalian eye morphogenesis.Nature communications · 2023Article
- Self-Organization of the Retina during Eye Development, Retinal Regeneration In Vivo, and in Retinal 3D Organoids In Vitro.Biomedicines · 2022Review
- Review
- Review
- Efficient differentiation of human embryonic stem cells to retinal pigment epithelium under defined conditions.Stem cell research & therapy · 2021Article
- Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time.Genomics, proteomics & bioinformatics · 2021Article
- Retinal organoids: a window into human retinal development.Development (Cambridge, England) · 2020Review
- PAX6D instructs neural retinal specification from human embryonic stem cell-derived neuroectoderm.EMBO reports · 2020Article
- Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure.Development (Cambridge, England) · 2020Article
- Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures.Cell reports · 2020Article
- The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.Frontiers in cellular neuroscience · 2020Article
- The Role of FGF9 in the Production of Neural Retina and RPE in a Pluripotent Stem Cell Model of Early Human Retinal Development.American journal of ophthalmology · 2019Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Microphthalmia-associated transcription factor (MITF) is a master regulator of pigmented cell survival and differentiation with direct transcriptional links to cell cycle, apoptosis and pigmentation. In mouse, Mitf is expressed early and uniformly in optic vesicle (OV) cells as they evaginate from the developing neural tube, and null Mitf mutations result in microphthalmia and pigmentation defects. However, homozygous mutations in MITF have not been identified in humans; therefore, little is known about its role in human retinogenesis. We used a human embryonic stem cell (hESC) model that recapitulates numerous aspects of retinal development, including OV specification and formation of retinal pigment epithelium (RPE) and neural retina progenitor cells (NRPCs), to investigate the earliest roles of MITF. During hESC differentiation toward a retinal lineage, a subset of MITF isoforms was expressed in a sequence and tissue distribution similar to that observed in mice. In addition, we found that promoters for the MITF-A, -D and -H isoforms were directly targeted by Visual Systems Homeobox 2 (VSX2), a transcription factor involved in patterning the OV toward a NRPC fate. We then manipulated MITF RNA and protein levels at early developmental stages and observed decreased expression of eye field transcription factors, reduced early OV cell proliferation and disrupted RPE maturation. This work provides a foundation for investigating MITF and other highly complex, multi-purposed transcription factors in a dynamic human developmental model system.
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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.