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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Detalles Bibliográficos
Autores principales: Jones, Melissa K., Orozco, Luz D., Qin, Han, Truong, Tom, Caplazi, Patrick, Elstrott, Justin, Modrusan, Zora, Chaney, Shawnta Y., Jeanne, Marion
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483287/
https://www.ncbi.nlm.nih.gov/pubmed/37691820
http://dx.doi.org/10.3389/fcell.2023.1252547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483287/
https://www.ncbi.nlm.nih.gov/pubmed/37691820
http://dx.doi.org/10.3389/fcell.2023.1252547

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