Pathogenic variants in MSL2, a core component of the histone-modifying MSL complex, are associated with neurodevelopmental disorders (NDDs) and white matter abnormalities; however, their mechanisms of pathogenicity remain unknown. In this study, we identified three patients with NDD carrying MSL2 variants, all of whom...
Jie Yuan, Yu-Hao Dong, Kai-Xiang Zhang et al.· Experimental and Molecular M...· 0 citations
This targeted narrative review synthesises representative Mendelian mechanisms across five linked levels: chromatin, transcription, RNA processing and stability, translation, and post-translational proteostasis to support variant interpretation, functional-test selection and translational prioritisation in unsolved Men...
H. Goel, Gunjan Garg· Frontiers in epigenetics and...· 0 citations
A hypothesis-generating load-capacity framework comprising regulatory load, network capacity, developmental buffering and regulatory network instability is proposed, and the Instability Twin is described as a prospective architecture composed of independently testable patient-specific sub-models rather than an existing...
H. Goel, T. Dudding-Byth, B. Kamien· Genes· 0 citations
AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.
Debora Tibbe, Christina Kiel, Olena Ielesicheva et al.· Genome Medicine· 0 citations
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