A5001721158- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- CRISPR and Genetic Engineering
- Olfactory and Sensory Function Studies
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Neuroendocrine regulation and behavior
- Microtubule and mitosis dynamics
- Autism Spectrum Disorder Research
- Genetic factors in colorectal cancer
Korea Advanced Institute of Science and Technology
2015-2024
Abstract The role of brain somatic mutations in Alzheimer’s disease (AD) is not well understood. Here, we perform deep whole-exome sequencing (average read depth 584×) 111 postmortem hippocampal formation and matched blood samples from 52 patients with AD 11 individuals affected by AD. number single nucleotide variations (SNVs) specimens increases significantly aging, the rate mutation accumulation 4.8-fold slower than that blood. putatively pathogenic identified 26.9% (14 52) are enriched...
Abstract Neural stem cells (NSCs) in the subventricular zone (SVZ) are identified as cells-of-origin harboring driver mutations glioblastoma (GBM), which is most devastating brain tumor with highly heterogeneous nature. However, sequential transformation of a limited number mutation-harboring NSCs into distant high intratumoral heterogeneity remains poorly understood. In this study, we have transcriptionally distinct types precancerous our spontaneous, somatic mouse model recapitulating...
Synaptic adhesion molecules regulate diverse aspects of neuronal synapse development, including specificity, formation, and maturation. Neph2, also known as Kirrel3, is an immunoglobulin superfamily molecule implicated in intellectual disability, neurocognitive delay associated with Jacobsen syndrome, autism spectrum disorders. We here report mice lacking Neph2 (Neph2–/– mice) display moderate hyperactivity a familiar but not novel environment object recognition deficit normal performances...
Copy number variants and point mutations of NEPH2 (also called KIRREL3) gene encoding an immunoglobulin (Ig) superfamily adhesion molecule have been linked to autism spectrum disorders, intellectual disability neurocognitive delay associated with Jacobsen syndrome, but the physiological roles Neph2 in mammalian brain remain largely unknown. is highly expressed dentate granule (DG) neurons hippocampus localized both dendrites axons. It was recently shown that required for formation mossy...
Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs. However, effect of human stages different organs features is still unclear. Here, we performed a systemic comprehensive analysis low-level using deep whole-exome sequencing (average read depth ~500×) 498 organ with matched controls from 190 individuals. Our results showed early clone-forming shared between were lower...
Abstract Low-level somatic mutations in the human brain are implicated various neurological disorders. The contribution of low-level to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth 559.3x 181 cortical, cerebellar, and peripheral tissue samples identify single nucleotide variants (SNVs) 24 ASD subjects 31 controls. We detected ~2.4 SNVs per region, a variant allele frequency (VAF) as low 0.3%....
Most somatic mutations arising during normal development present as low-level in single or multiple tissues depending on the developmental stage and affected organs 1-4 . However, it remains unclear how human stages mutation-carrying affect mutations’ features. Here, we performed a systemic comprehensive analysis of using deep whole-exome sequencing (WES; average read depth: ∼500×) 498 organ with matched controls from 190 individuals. We found that early-stage shared between are lower number...