Integration of human stem cell-derived in vitro systems and mouse preclinical models identifies complex pathophysiologic mechanisms in retinal dystrophy

Integration of human stem cell-derived in vitro systems and mouse preclinical models identifies complex pathophysiologic mechanisms in retinal dystrophy

Rare DRAM2 coding variants cause retinal dystrophy with early macular involvement via unknown mechanisms. We found that DRAM2 is ubiquitously expressed in the human eye and expression changes were observed in eyes with more common maculopathy such as Age-related Macular Degeneration (AMD). To gain i...

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Bibliographic Details
Main Authors: Melissa K. Jones, Luz D. Orozco, Han Qin, Tom Truong, Patrick Caplazi, Justin Elstrott, Zora Modrusan, Shawnta Y. Chaney, Marion Jeanne
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
retinal dystrophy
human stem cells
retinal organoids
mouse models
single cell sequencing
DRAM2
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2023.1252547/full

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