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A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.

Samet BayraktarJulian NehrigEkaterina MenisKevser KarliAnnette JanningThaddäus StrukJan HalbritterUlf MichgehlMichael P KrahnChristian E SchuberthHermann PavenstädtRoland Wedlich-Söldner
Published in: Journal of the American Society of Nephrology : JASN (2021)
Our results suggest that CaAR can be used as a sensitive assay for INF2 function and for robust evaluation of diseased-linked variants of formin. More broadly, these findings indicate that cellular profiling of disease-associated mutations has potential to contribute substantially to sequence-based phenotype predictions.
Keyphrases
  • high throughput
  • copy number
  • dna methylation