Publications by authors named "Emile R Vieta-Ferrer"
Article Synopsis
- Variations in the protocadherin gene have been linked to syndromes with symptoms like coloboma, facial deformation, kidney failure, and syndactyly.
- A 51-year-old woman with bilateral colobomata and renal failure, along with a family history of cancer, was studied through detailed medical examination and genetic testing.
- Whole exome sequencing identified a significant variant in the FAT1 gene, suggesting it plays a critical role in kidney function and eye development, even if the resulting protein is partially non-functional.
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Elangovan Boobalan Amy H Thompson Ramakrishna P Alur David M McGaughey Lijin Dong Emile R Vieta-Ferrer
Invest Ophthalmol Vis Sci
November 2022
Purpose: Uveal coloboma is a congenital eye malformation caused by failure of the optic fissure to close in early human development. Despite significant progress in identifying genes whose regulation is important for executing this closure, mutations are detected in a minority of cases using known gene panels, implying additional genetic complexity. We have previously shown knockdown of znf503 (the ortholog of mouse Zfp503) in zebrafish causes coloboma.
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