A5013989325- Chromatin Remodeling and Cancer
- Cancer Mechanisms and Therapy
- Genetics and Neurodevelopmental Disorders
- Empathy and Medical Education
- interferon and immune responses
- Innovations in Medical Education
- Torture, Ethics, and Law
- Mechanisms of cancer metastasis
- Medical History and Research
- Epigenetics and DNA Methylation
- Ethics in medical practice
- Cancer-related gene regulation
- Signaling Pathways in Disease
University of Toronto
2024
Western University
2017-2023
Children’s Health Research Institute
2017-2019
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, KMT2C), single individuals with characteristics overlapping syndrome. Here, we present a novel cohort five patients loss function...
Technology has led to rapid progress in the identification of genes involved neurodevelopmental disorders such as intellectual disability (ID), but our functional understanding causative is lagging. Here, we show that SWI/SNF chromatin remodelling complex one most over-represented cellular components disrupted ID. We investigated role individual subunits this large protein using targeted RNA interference post-mitotic memory-forming neurons Drosophila mushroom body (MB). Knockdown flies were...
Abstract Technology has led to rapid progress in the identification of genes involved neurodevelopmental disorders like intellectual disability (ID), but our functional understanding causative is lagging. Here, we show that SWI/SNF chromatin remodeling complex one most overrepresented cellular components disrupted ID. We systematically investigated role individual subunits this large protein post-mitotic memory forming neurons Drosophila mushroom body (MB). Using approach, have identified...
Abstract Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause syndromic intellectual disability (ID). Here, we report on 5 individuals with mutations SMARCD1 gene, presenting ID, developmental delay, hypotonia, feeding difficulties, and small extremities. The were proven to be de novo 4 individuals. other Coffin-Siris, Nicolaides-Baraitser, or ID disorders. Although presented here have some clinical overlap these disorders, they lack typical facial...