Publications by authors named "Aileen Nava"
Article Synopsis
- - Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder linked to mutations in the KAT6A gene, resulting in symptoms like intellectual disability, developmental delays, and hypotonia, affecting multiple organs.
- - The study analyzed dermal fibroblasts from ARTHS patients and controls, revealing that about 23% of genes showed different chromatin accessibility and expression, particularly in genes from the HOXC gene cluster, which are vital for early developmental processes.
- - Additionally, researchers discovered two new disrupted histone modifications (H2A and H3K56 acetylation) in ARTHS, highlighting the complex regulatory roles of KAT6A on gene expression and epigenomic changes
Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, truncating mutations in . ARTHS is clinically heterogeneous and characterized by several common features including intellectual disability, developmental and speech delay, hypotonia and affects multiple organ systems. is highly expressed in early development and plays a key role in cell-type specific differentiation.
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- The OMICs cascade outlines how information flows in biological systems, with the epigenome at the top regulating gene expression and cellular functions.
- Mutations in genes regulating the epigenome (epigenes) can cause developmental disorders called "chromatinopathies," which impact multiple systems and lead to conditions like intellectual disabilities.
- The study compiled the largest collection of chromatinopathies (179 disorders linked to 148 epigenes) and emphasizes the use of advanced OMICs technologies to explore these disorders and inform future treatments.
C1q plays a key role as a recognition molecule in the immune system, driving autocatalytic complement cascade activation and acting as an opsonin. We have previously reported a non-immune role of complement C1q modulating the migration and fate of human neural stem cells (hNSC); however, the mechanism underlying these effects has not yet been identified. Here, we show for the first time that C1q acts as a functional hNSC ligand, inducing intracellular signaling to control cell behavior.
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