A5065673998- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Virus-based gene therapy research
- interferon and immune responses
- Genetic Syndromes and Imprinting
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Cancer, Hypoxia, and Metabolism
- Heme Oxygenase-1 and Carbon Monoxide
- Mesenchymal stem cell research
- Neonatal Health and Biochemistry
- Poxvirus research and outbreaks
- Renal cell carcinoma treatment
- Genomics and Rare Diseases
- Cancer Cells and Metastasis
- Immunotherapy and Immune Responses
- Abdominal Surgery and Complications
- Hemodynamic Monitoring and Therapy
- Single-cell and spatial transcriptomics
- Fetal and Pediatric Neurological Disorders
- Genetic Associations and Epidemiology
- Carbon and Quantum Dots Applications
- Spatial Neglect and Hemispheric Dysfunction
- Nanocluster Synthesis and Applications
- Hair Growth and Disorders
University of Cincinnati Medical Center
2024-2025
Cornell University
2014-2024
Weill Cornell Medicine
2016-2024
Queen Elizabeth Hospital
2023
Bipar
2018
New York Hospital Queens
2015-2016
Presbyterian Hospital
2015-2016
NewYork–Presbyterian Hospital
1997-2016
The Rogosin Institute
2016
Lander Institute
2016
<h3>Importance</h3> Understanding molecular mechanisms of response and resistance to anticancer therapies requires prospective patient follow-up clinical functional validation both common low-frequency mutations. We describe a whole-exome sequencing (WES) precision medicine trial focused on patients with advanced cancer. <h3>Objective</h3> To understand how WES data affect therapeutic decision making in cancer identify novel biomarkers response. <h3>Design, Setting, Patients</h3> Patients...
Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional regulator of adipocyte differentiation and canonical target antidiabetic thiazolidinedione medications. In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy insulin resistance; the general population, common P12A variant associated decreased risk type 2 diabetes (T2D). Whether how variants defects influence T2D population remains undetermined. By sequencing...
Abstract Dysfunctional immune responses contribute critically to the progression of Coronavirus Disease-2019 (COVID-19), with macrophages as one main cell types involved. It is urgent understand interactions among permissive cells, macrophages, and SARS-CoV-2 virus, thereby offering important insights into effective therapeutic strategies. Here, we establish a lung macrophage co-culture system derived from human pluripotent stem cells (hPSCs), modeling host-pathogen interaction in infection....
Abstract The DNA sensor cyclic GMP-AMP synthase (cGAS) is critical in host antiviral immunity. Vaccinia virus (VACV) a large cytoplasmic that belongs to the poxvirus family. How vaccinia antagonizes cGAS-mediated cytosolic DNA-sensing pathway not well understood. In this study, we screened 80 genes identify potential viral inhibitors of cGAS/Stimulator interferon gene (STING) pathway. We discovered E5 virulence factor and major inhibitor cGAS. responsible for abolishing cGAMP production...
Abstract Rapid eye movement (REM) sleep behavior disorder (RBD) involves complex and a loss of muscle atonia occuring during REM sleep. Half these patients with RBD have an underlying neurologic including dementia, olivopontocerebellar atrophy, subarachnoid hemorrhage, cerebrovascular disease. Clonazepam is the drug choice for RBD. has been rarely reported to precede onset Parkinson's disease (PD). Three are presented here whose preceded PD by several years, both symptoms improved levodopa...
We describe Exome Cancer Test v1.0 (EXaCT-1), the first New York State-Department of Health-approved whole-exome sequencing (WES)-based test for precision cancer care. EXaCT-1 uses HaloPlex (Agilent) target enrichment followed by next-generation (Illumina) tumour and matched constitutional control DNA. present a detailed clinical development validation pipeline suitable simultaneous detection somatic point/indel mutations copy-number alterations (CNAs). A computational framework data...
Abstract COVID-19 is a systemic disease involving multiple organs. We previously established platform to derive organoids and cells from human pluripotent stem model SARS-CoV-2 infection perform drug screens 1,2 . This provided insight into cellular tropism the host response, yet molecular mechanisms regulating remain poorly defined. Here we systematically examined changes in transcript profiles caused by at different multiplicities of for lung airway organoids, alveolar cardiomyocytes,...
Autosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in PKD1 and PKD2 that characterized renal tubular epithelial cell proliferation progressive CKD. Although the molecular mechanisms involved cystogenesis are not established, concurrent inactivating constitutional somatic ADPKD genes cyst epithelium have been proposed as cellular recessive mechanism.We characterized, whole-exome sequencing (WES) long-range PCR techniques, cells from 83 cysts obtained nine...
Abstract Stereotypies are patterned, repetitive, purposeless movements that performed the same way each time. They commonly seen in individuals with autism, schizophrenia, or mental retardation, and also occur as a feature of tardive dyskinesia those akathisia. We studied 10 children who had stereotypies but were not autistic mentally retarded. Although most an uneventful delivery, seven mild to moderately delayed developmental milestones. Five hyperactive behavior attention‐deficit...
Purpose To define the magnetic resonance (MR) imaging prevalence of pancreatic cysts in a cohort patients with autosomal dominant polycystic kidney disease (ADPKD) compared control group without ADPKD that was matched for age, sex, and renal function. Materials Methods In this HIPAA-compliant, institutional review board–approved study, all provided informed consent; subjects, consent waived. Patients (n = 110) mutations identified PKD1 or PKD2 subjects known who were estimated glomerular...
Carbon nanotubes (CNTs) have garnered significant attention in recent years due to their unique properties and wide-range applicability. However, alongside these promising applications, concerns regarding the potential toxicity of CNTs emerged. In this context, through work, we attempted explore nanotoxic effect over endoplasmic reticular (ER). Using structure illumination transmission electron microscopies, unveiled that during endocytosis processes, form clusters, which lead fragmentation...
Bio-waste is a side product of biomedical research containing carbon, which can be utilized for developing carbon dots (CDs). CDs are known to useful variety applications because their unique photoluminescence, low toxicity, and straightforward synthesis. In this paper, we employed one-step hydrothermal method prepare from bio-waste as the only reactant. The as-synthesized
Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations PKD1 or PKD2 genes. Although highly polymorphic and the new mutation rate relatively high, role mosaicism incompletely defined. Herein, we describe molecular analysis ADPKD in 19-year-old female proband her father. The had truncation c.10745dupC (p.Val3584ArgfsX43), which was absent paternal peripheral blood lymphocytes (PBL). However, very low quantities this were...
Effective depletion of immune suppressive regulatory T cells (Tregs) in the tumor microenvironment without triggering systemic autoimmunity is an important strategy for cancer immunotherapy. Modified vaccinia virus Ankara (MVA) a highly attenuated, non-replicative with long history human use. Here, we report rational engineering immune-activating recombinant MVA (rMVA, MVA∆E5R-Flt3L-OX40L) deletion E5R gene (encoding inhibitor DNA sensor cyclic GMP-AMP synthase, cGAS) and expression two...
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in kidneys. It often caused pathogenic mutations PKD1 and PKD2 genes that encode polycystin proteins. Although molecular mechanisms for cystogenesis are not established, concurrent inactivating germline somatic have been previously observed renal tubular epithelium (RTE).To further investigate cellular recessive mechanism RTE, we conducted whole-genome DNA sequencing...
In this study, we explore the role of oxidative stress produced by NOX2-containing NADPH oxidase as a molecular mechanism causing capillary stalling and cerebral blood flow deficits in APP/PS1 mouse model AD.
SUMMARY The DNA sensor cyclic GMP-AMP synthase (cGAS) is critical in host antiviral immunity. Vaccinia virus (VACV) a large cytoplasmic that belongs to the poxvirus family. How vaccinia antagonizes cGAS-mediated cytosolic DNA-sensing pathway largely unknown. In this study, we screened 82 viral genes identify potential inhibitors of cGAS/Stimulator interferon gene (STING) pathway. We discovered E5 virulence factor and major inhibitor cGAS elicits proteasome-dependent degradation. localizes...