Publications by authors named "Nghi D P Dang"
Mutations in the transcription factor early B cell factor 3 result in a neurodevelopmental disorder, and studies in animal models indicate that it has a critical role in neuronal differentiation. The molecular pathways and neuron types disrupted by its loss, however, have not been thoroughly investigated. Nor have the outcomes of these changes on behavior and brain activity.
View Article and Find Full Text PDFDe novo truncations in () lead to severe childhood-onset neurodegenerative disorders. To determine how loss of causes neural dysfunction, we examined its function in and zebrafish. Overexpression of either or , the ortholog, represses Wnt transcription in flies.
View Article and Find Full Text PDFArticle Synopsis
- The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
- Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
- Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.