Article

Loss of NR2E3 disrupts rod photoreceptor cell maturation causing a fate switch late in human retinal development

2023-07-01

Abstract excerpt

<h4>ABSTRACT</h4> While dysfunction and death of light-detecting photoreceptor cells underlie most inherited retinal dystrophies, knowledge of the species-specific details of human rod and cone photoreceptor cell development remains limited. Here, we generate retinal organoids using induced pluripotent stem cells (iPSC) derived from a patient with genetic photoreceptor disease due to mutations in NR2E3 , an isog...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b952d31c-0c84-5f47-9b47-27d22186c80b
DOI: 10.1101/2023.06.30.547279

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Loss of NR2E3 disrupts rod photoreceptor cell maturation causing a fate switch late in human retinal developmentDOI 10.1101/2023.06.30.547279Read

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal developmentSemantic proximity Read

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseasesSemantic proximity Read

Retinal Organoid Single-Cell Transcriptomics Reveals Effects of PRPF31 Mutation on Early Müller Glial Activation and Progressive Photoreceptor DegenerationSemantic proximity Read

Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related featuresSemantic proximity Read

Cell types of the human retina and its organoids at single-cell resolution: developmental convergence, transcriptomic identity, and disease mapSemantic proximity Read

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.Semantic proximity Read

Generation of human neural retina transcriptome atlas by single cell RNA sequencingSemantic proximity Read

Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution.Semantic proximity Read

Human retinal organoid single-cell atlas allows to reconstruct retinal development at high resolution and identify nature restricted transcriptional states in vitroSemantic proximity Read

Transcriptome-based molecular staging of human stem cell-derived retinal organoids uncovers accelerated photoreceptor differentiation by 9- <i>cis</i> retinalSemantic proximity Read

Single Cell Transcriptomics on PRPF31 Retinal Organoids Reveal Early Müller Glial Activation and Progressive Photoreceptor DegenerationSemantic proximity Read

Modeling autosomal dominant retinitis pigmentosa by using patient-specific retinal organoids with a class-3 RHO mutation.Semantic proximity Read