A5066497009- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- T-cell and B-cell Immunology
- Genetic and Kidney Cyst Diseases
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Magnesium in Health and Disease
- Innovations in Medical Education
- Ergonomics and Musculoskeletal Disorders
- Gene Regulatory Network Analysis
- Genetics, Aging, and Longevity in Model Organisms
- Vector-Borne Animal Diseases
- Evolution and Genetic Dynamics
- Color perception and design
- Immune Cell Function and Interaction
- Medical Education and Admissions
- Diversity and Career in Medicine
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Ion Channels and Receptors
- Tissue Engineering and Regenerative Medicine
- Genetic Syndromes and Imprinting
- Endoplasmic Reticulum Stress and Disease
University of Pennsylvania
2022-2025
California University of Pennsylvania
2024
Office of Diversity and Inclusion
2023
Columbia University Irving Medical Center
2020
Columbia University
2018
Seoul National University
2015
The fully developed adult skeleton adapts to mechanical forces by generating more bone, usually at the periosteal surface. Progenitor cells in periosteum are believed differentiate into bone-forming osteoblasts that contribute load-induced bone formation, but vivo evidence does not yet exist. Furthermore, mechanism which progenitors might sense physical loading and trigger differentiation is unknown. We propose osteochondroprogenitors (OCPs) directly load via their primary cilia,...
Short tandem repeat (STR) instability causes transcriptional silencing in several expansion disorders. In fragile X syndrome (FXS), mutation-length of a CGG STR represses FMR1 via local DNA methylation. Here, we find megabase-scale H3K9me3 domains on autosomes and encompassing the chromosome FXS patient-derived iPSCs, iPSC-derived neural progenitors, EBV-transformed lymphoblasts, brain tissue with expansion. connect inter-chromosomal interactions demarcate severe misfolding TADs loops. They...
SUMMARY X Chromosome Inactivation (XCI) equalizes X-linked gene expression between sexes. B cells exhibit dynamic XCI, with Xist RNA/heterochromatic marks absent on the inactive (Xi) in naive but returning following mitogenic stimulation. The impact of XCI Xi structure and maintenance was previously unknown. Here, we find dosage compensation state-specific escape genes vitro activated cells. Allele-specific OligoPaints indicate similar Xa territories that are less compact than fibroblasts....
Genome editing technologies have transformed our ability to engineer desired genomic changes within living systems. However, detecting precise modifications often requires sophisticated, expensive, and time-consuming experimental approaches. Here, we describe DTECT (Dinucleotide signaTurE CapTure), a rapid versatile detection method that relies on the capture of targeted dinucleotide signatures resulting from digestion DNA amplicons by type IIS restriction enzyme AcuI. enables accurate...
Abstract Mammalian genomes fold into tens of thousands long-range loops, but their functional role and physiologic relevance remain poorly understood. Here, using human post-mitotic neurons with rare familial Alzheimer’s disease (FAD) mutations, we identify hundreds reproducibly dysregulated genes miswired loops prior to amyloid accumulation tau phosphorylation. Single do not predict expression changes; however, the severity direction change in mRNA levels single-cell burst frequency...
ABSTRACT X Chromosome Inactivation (XCI) equalizes X-linked gene expression between sexes. B cells exhibit unusually dynamic XCI, as Xist RNA/heterochromatic marks on the inactive (Xi) are absent in naïve cells, but return following mitogenic stimulation. Xi analysis supports dosage compensation, reveals high levels of XCI escape genes both naive and activated cells. Allele-specific OligoPaints indicate similar Xa territories that is less compact than fibroblasts. Hi-C maps reveal a lack...
More than 60 human disorders have been linked to unstable expansion of short tandem repeat (STR) tracts. STR length and the extent DNA methylation is disease pathology can be mosaic in a cell type-specific manner several disorders. Mosaic phenomenon difficult study date due technical bias intrinsic sequences need for multi-modal measurements at single-allele resolution. Nanopore long-read sequencing accurately measures same single molecule but cost prohibitive studies assessing target locus...
Objectives: A people-counting system measures real-time occupancy through motion detection. Accurate can be used to calculate suitable ventilation demands. This study determined the optimum threshold for a system. Methods: In closed room with two occupants moving constantly, different thresholds were tested accuracy of The experiments conducted at 150, 300, 450 and 600 lux. These levels brightness included illumination most public indoor areas. repeated three types clothing coloration....