September 26, 2024Open Access

Variability in proliferative and migratory defects in Hirschsprung disease-associatedRETpathogenic variants

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LFLauren E. FriesColumbia University Irving Medical Center SDSree DharmaCenter for Human Genetics ACAravinda ChakravartiNYU Langone Health

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Implication

Investigates the effects of RET pathogenic variants on proliferation and migration in a cellular model, highlighting their implications for Hirschsprung disease.

Key Points

Significant losses in cell proliferation and migration occur in three RET missense variants and all nonsense variants, affecting Hirschsprung disease severity.
The study evaluates RET variants using quantitative proliferation and migration assays, revealing variable functional impacts.
Research combines cDNA-based and CRISPR-based PRIME editing approaches to understand RET pathogenicity in neuroectodermal context through cellular models of Hirschsprung disease. The findings suggest that machine learning predictions of RET variant pathogenicity may require functional validation to improve accuracy.

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Fries et al. (2024) studied this question.

synapsesocial.com/papers/68e57542b6db6435875158ec https://doi.org/10.1101/2024.09.24.614825

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Implication

Investigates the effects of RET pathogenic variants on proliferation and migration in a cellular model, highlighting their implications for Hirschsprung disease.

Variability in proliferative and migratory defects in Hirschsprung disease-associatedRETpathogenic variants

Discussion

Member takes

Implication

Key Points

Cite This Study

Variability in proliferative and migratory defects in Hirschsprung disease-associatedRETpathogenic variants

Discussion

Member takes

Implication

Key Points

Cite This Study

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