A5052715189- TGF-β signaling in diseases
- Scoliosis diagnosis and treatment
- Connective tissue disorders research
- Neuroinflammation and Neurodegeneration Mechanisms
- Spine and Intervertebral Disc Pathology
- Adipose Tissue and Metabolism
- Neurogenesis and neuroplasticity mechanisms
- Evolutionary Psychology and Human Behavior
- RNA regulation and disease
- Amyotrophic Lateral Sclerosis Research
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Circadian rhythm and melatonin
- Neuroendocrine regulation and behavior
- Genomics and Chromatin Dynamics
- Parkinson's Disease Mechanisms and Treatments
- Mesenchymal stem cell research
- Alzheimer's disease research and treatments
- Cancer, Hypoxia, and Metabolism
- Genetic factors in colorectal cancer
University of California, San Francisco
2023-2025
Cornell University
2020
Abstract Tumors exhibit an increased ability to obtain and metabolize nutrients. Here, we implant engineered adipocytes that outcompete tumors for nutrients show they can substantially reduce cancer progression, a technology termed adipose manipulation transplantation (AMT). Adipocytes use amounts of glucose fatty acids by upregulating UCP1 were placed alongside cells or xenografts, leading significant suppression. Transplanting modulated organoids in pancreatic breast genetic mouse models...
Haploinsufficiency of progranulin (PGRN) is a leading cause frontotemporal lobar degeneration (FTLD). Loss PGRN leads to lysosome dysfunction during aging. TMEM106B, gene encoding lysosomal membrane protein, the main risk factor for FTLD with haploinsufficiency. But how TMEM106B affects disease progression remains be determined. Here, we report that deficiency in mice accumulation vacuoles at distal end axon initial segment motor neurons and development FTLD-related pathology Ablation both...
Topological associating domains (TADs) are self-interacting genomic units crucial for shaping gene regulation patterns. Despite their importance, the extent of evolutionary conservation and its functional implications remain largely unknown. In this study, we generate Hi-C ChIP-seq data compare TAD organization across four primate rodent species characterize genetic epigenetic properties boundaries in correspondence to conservation. We find 14% all human be shared among eight...
Abstract TMEM106B encodes a lysosomal membrane protein and was initially identified as risk factor for frontotemporal lobar degeneration. Recently, dominant D252N mutation in shown to cause hypomyelinating leukodystrophy. However, how regulates myelination is still unclear. Here we show that expressed localized the lysosome compartment oligodendrocytes. deficiency mice results defects with significant reduction of levels proteolipid (PLP) myelin oligodendrocyte glycoprotein (MOG), proteins...
Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A genome-wide association study identified female-specific AIS susceptibility locus near PAX1 gene. Here, we use mouse enhancer assays, three knockouts, and subsequent phenotypic analyses to characterize this region. Using sequence, PEC7, which overlaps AIS-associated variant, find it be active tail tip intervertebral disc. Removal PEC7 or Xe1, known...
Abstract The oxytocin receptor (OXTR) has a vital role in regulating human behavior, controlling lactation, parturition, pair bonding, maternal anxiety, and sociability. However, its regulatory elements how variation these sequences lead to behavioral changes remain largely unknown. Here, we identified seven OXTR candidate cis-regulatory (cCREs) from mouse hypothalamus single-cell RNA/ATAC-seq data characterized them cells mice. Luciferase assays cell lines three of the be functional...
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms drive AIS are largely unknown. We previously defined female-specific genetic locus an enhancer near PAX1 gene. Here, we sought define roles newly identified AIS-associated genes developmental mechanism AIS. In study 10,519...
Abstract Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is sexually dimorphic, with increased incidence in females. A GWAS identified female-specific AIS susceptibility locus near PAX1 gene. Here, we used mouse enhancer assays, three knockouts and subsequent phenotypic analyses to characterize this region. Using characterized sequence, PEC7, that overlaps AIS-associated variant, found it be active tail tip intervertebral disc. Removal PEC7 or Xe1, known sclerotome...
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms drive AIS are largely unknown. We previously defined female-specific genetic locus an enhancer near PAX1 gene. Here, we sought define roles newly identified AIS-associated genes developmental mechanism AIS. In study 10,519...