Publications by authors named "E J Bhoj"
Article Synopsis
- The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
- A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
- This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
Craniofacial tissues undergo hard tissue development through mineralization and changes in physicochemical properties. This study investigates the mechanical and chemical properties of developing enamel, dentin, and bone in the mouse mandible. We employ a multi-modal, multi-scale analysis of the developing incisor and first molar at postnatal day 12 by integrating micro-computed tomography (microCT), nanoindentation (NI), energy dispersive spectroscopy (EDS), and Raman spectroscopy.
View Article and Find Full Text PDFBackground And Objectives: TBCK syndrome is a rare fatal pediatric neurodegenerative disease caused by biallelic loss-of-function mutations in the gene. Previous studies by our lab and others have implicated mTOR, autophagy, lysosomes, and intracellular mRNA transport, however the exact primary pathologic mechanism is unknown. This gap has prevented the development of targeted therapies.
View Article and Find Full Text PDFBackground: Bryant-Li-Bhoj neurodevelopmental syndrome (BLBS) is neurogenetic disorder caused by variants in and the two genes that encode the histone H3.3 protein. Ninety-nine percent of individuals with BLBS show developmental delay/intellectual disability, but the mechanism by which variants in H3.
View Article and Find Full Text PDFArticle Synopsis
- Zinc and RING finger 3 (ZNRF3) regulates Wnt/β-catenin signaling, crucial for brain development, but germline variants have not been linked to neurodevelopmental disorders (NDDs) before.
- Researchers found 12 individuals with ZNRF3 variants, noting a correlation between specific mutations and NDD phenotypes, especially those affecting brain size.
- Structural modeling and functional assays revealed that missense variants linked to larger brain size enhanced Wnt signaling, while a variant causing smaller brain size reduced it, indicating different mechanisms at play in NDDs related to ZNRF3 mutations.