A5083992307- Congenital heart defects research
- Cardiac Fibrosis and Remodeling
- Peroxisome Proliferator-Activated Receptors
- Lipid metabolism and biosynthesis
- Cholesterol and Lipid Metabolism
- Glutathione Transferases and Polymorphisms
- Proteoglycans and glycosaminoglycans research
- Genetics and Neurodevelopmental Disorders
- Growth Hormone and Insulin-like Growth Factors
- HER2/EGFR in Cancer Research
- Diabetes and associated disorders
- Cell Adhesion Molecules Research
- Mitochondrial Function and Pathology
- Tissue Engineering and Regenerative Medicine
- Cardiac Ischemia and Reperfusion
- Neuroinflammation and Neurodegeneration Mechanisms
- Pancreatic function and diabetes
- Immune Response and Inflammation
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Cancer-related gene regulation
- Cardiovascular Function and Risk Factors
- Thyroid Cancer Diagnosis and Treatment
- FOXO transcription factor regulation
- Melanoma and MAPK Pathways
University of Massachusetts Chan Medical School
2022-2023
Cincinnati Children's Hospital Medical Center
2019-2021
University of Cincinnati
2020
Augusta University
2016
Aberrant alternative splicing of mRNAs results in dysregulated gene expression multiple neurological disorders. Here, we show that hundreds are incorrectly expressed and spliced white blood cells brain tissues individuals with fragile X syndrome (FXS). Surprisingly, the
Anaplastic thyroid carcinoma (ATC) accounts for only 3% of cancers, yet strikingly, it almost 40% cancer deaths. Currently, no effective therapies exist. In an effort to identify ATC-specific therapeutic targets, we analyzed global gene expression data from multiple studies dysregulated genes.The National Center Biotechnology Information Gene Expression Omnibus database was searched high-throughput microarray human ATC tissue along with normal and/or papillary (PTC) tissue. levels in were...
Background: Myxomatous valve degeneration (MVD) involves the progressive thickening and of heart valves, leading to prolapse, regurgitant blood flow, impaired cardiac function. Leukocytes composed primarily macrophages have recently been detected in myxomatous but timing presence contributions these cells MVD progression are not known. Methods: We examined progression, macrophages, microenvironment context Marfan syndrome (MFS) using mitral valves from MFS mice ( Fbn1 C1039G/+ ), gene-edited...
The HER2 + subtype of human breast cancer is associated with the malignant transformation luminal ductal cells mammary epithelium. sequence analysis tumor DNA identifies loss function mutations and deletions MAP2 K4 K7 genes that encode direct activators JUN NH 2 -terminal kinase (JNK). We report in vitro studies epithelial CRISPR-induced MAPK MAP2K components JNK pathway caused no change growth 2D culture, but these promoted cell proliferation 3D culture. Analysis gene expression signatures...
Aims: Reduced levels of free and total insulin-like growth factor 1 (IGF-I) have been observed in Type-1 Diabetes (T1D) patients. The bioavailability IGF-I from the circulation to target cells is controlled by multifunctional IGF binding proteins (IGFBPs). aim this study was profile serum IGFBPs T1D its complications. Design: We measured IGFBP 3662 patient samples our ongoing Phenome Genome Autoimmunity (PAGODA) study. four different groups patients (with 0, 1, 2, ≥3 complications) were...
Studies in mice show a brief neonatal period of cardiac regeneration with minimal scar formation, but less is known about reparative mechanisms large mammals. A transient injury approach (ischemia/reperfusion, IR) was used weaned postnatal day (P)30 pigs to assess regenerative repair young mammals at stage when cardiomyocyte (CM) mitotic activity still detected. Female and male P30 were subjected ischemia (1 h) by occlusion the left anterior descending artery followed reperfusion, or sham...
The enzyme 3β-hydroxysterol-Δ24 reductase (DHCR24, EC 1.3.1.72) catalyzes the conversion of desmosterol to cholesterol and is obligatory for post-squalene synthesis. Genetic loss this results in desmosterolosis (MIM #602398), a rare disease that presents with multiple congenital anomalies, features which overlap subjects Smith-Lemli-Opitz syndrome (another disorder). Global knockout (KO) Dhcr24 mice recapitulates biochemical phenotype, but pups die within 24 h from lethal dermopathy,...
Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes enzyme 3β-hydroxysterol-Δ7 reductase. SLOS patients present clinically with dysmorphology and neurological, behavioral, cognitive defects, characteristically elevated levels of 7-dehydrocholesterol (7-DHC) all bodily tissues fluids. Previous mouse models have been hampered postnatal lethality when knocked out globally, while hypomorphic model...
Microglia are myeloid cells of the central nervous system that perform tasks essential for brain development, neural circuit homeostasis, and disease. react to inflammatory stimuli by upregulating signaling through several different immune cell receptors such as Toll-like receptor 4 (TLR4), which signals downstream effectors including transforming growth factor beta-activated kinase 1 (TAK1). Here, we show TAK1 levels regulated CPEB1, a sequence-specific RNA binding protein controls...
ABSTRACT Studies in mice show a brief neonatal period of cardiac regeneration with minimal scar formation. Less is known about reparative mechanisms large mammals. A transient injury approach (ischemia/reperfusion, IR) was used weaned postnatal day (P)30 pigs, to assess regenerative repair young Female and male P30 pigs were subjected ischemia (1 hour) by occlusion the left anterior descending artery followed reperfusion, or sham operation. Following IR, myocardial damage occurred, ejection...
Background Rodent cardiomyocytes (CM) undergo mitotic arrest and decline of mononucleated-diploid population post-birth, which are implicated in neonatal loss heart regenerative potential. However, the dynamics postnatal CM maturation largely unknown swine, despite a similar cardiac capacity as rodents. Here, we provide comprehensive analysis including cell cycling, multinucleation hypertrophic growth, well non-CM factors such extracellular matrix (ECM), immune cells, capillaries, neurons....
Background: Rodent cardiomyocytes (CM) undergo mitotic arrest and decline of mononucleated-diploid population post-birth, which are implicated in neonatal loss heart regenerative potential. However, the dynamics postnatal CM maturation largely unknown swine, despite a similar cardiac capacity as rodents. Here, we provide comprehensive analysis including cell cycling, multinucleation hypertrophic growth, well non-CM factors such extracellular matrix (ECM), immune cells, capillaries, neurons....