A5039011294- Acute Myeloid Leukemia Research
- Lymphoma Diagnosis and Treatment
- Sphingolipid Metabolism and Signaling
- Chronic Lymphocytic Leukemia Research
- Cancer Genomics and Diagnostics
- Salivary Gland Tumors Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Chronic Myeloid Leukemia Treatments
- CAR-T cell therapy research
- Cancer Cells and Metastasis
- Acute Lymphoblastic Leukemia research
- Chromatin Remodeling and Cancer
- Protein Kinase Regulation and GTPase Signaling
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cystic Fibrosis Research Advances
- Intracerebral and Subarachnoid Hemorrhage Research
- Developmental Biology and Gene Regulation
- Epigenetics and DNA Methylation
- Viral-associated cancers and disorders
- Retinoids in leukemia and cellular processes
- Vascular Tumors and Angiosarcomas
- Cutaneous Melanoma Detection and Management
- Hedgehog Signaling Pathway Studies
Cornell University
2016-2025
Weill Cornell Medicine
2016-2025
New York Hospital Queens
2017-2024
NewYork–Presbyterian Hospital
2017-2024
Presbyterian Hospital
2017-2024
Center for Vascular Biology Research
2018
Brigham and Women's Hospital
2011-2016
Harvard University
2009-2016
Precision for Medicine (United States)
2016
Men's Health Boston
2014
The incidence of hematologic cancers increases with age. These are associated recurrent somatic mutations in specific genes. We hypothesized that such would be detectable the blood some persons who not known to have disorders.
<h3>Context</h3>Variants in the CYP2C19 gene influence pharmacologic and clinical response to standard 75-mg daily maintenance dose of antiplatelet drug clopidogrel.<h3>Objective</h3>To test whether higher doses (up 300 mg daily) improve clopidogrel setting loss-of-function genotypes.<h3>Design, Setting, Patients</h3>ELEVATE-TIMI 56 was a multicenter, randomized, double-blind trial that enrolled genotyped 333 patients with cardiovascular disease across 32 sites from October 2010 until...
A growing body of data suggests the importance epigenetic mechanisms in cancer. Polycomb repressive complex 2 (PRC2) has been implicated self-renewal and cancer progression, its components are overexpressed many cancers. However, role development progression remains unclear. We used conditional alleles for PRC2 enhancer zeste ( Ezh2 ) embryonic ectoderm Eed to characterize function leukemia progression. Compared with wild-type leukemia, -null MLL-AF9–mediated acute myeloid (AML) failed...
Diffuse large B cell lymphoma (DLBCL) is a clinically and genetically heterogeneous disease. A small subset of DLBCLs has translocations involving the MYC locus an additional group molecular signature resembling Burkitt (mBL). Presently, identification such cases by morphology unreliable relies on cytogenetic or complex methods as gene transcriptional profiling. Herein, we describe immunohistochemical (IHC) method for identifying with increased protein expression. We tested 77 DLBCL...
Abstract Next-generation sequencing was used to identify Notch mutations in a large collection of diverse solid tumors. NOTCH1 and NOTCH2 rearrangements leading constitutive receptor activation were confined triple-negative breast cancers (TNBC; 6 66 tumors). TNBC cell lines with associated high levels activated (N1-ICD) sensitive the gamma-secretase inhibitor (GSI) MRK-003, both alone combination paclitaxel, vitro vivo, whereas resistant GSI. Immunohistochemical staining N1-ICD xenografts...
Abstract The use and effectiveness of current stroke reperfusion therapies are limited by the complications injury, which include increased cerebrovascular permeability haemorrhagic transformation. Sphingosine-1-phosphate (S1P) is emerging as a potent modulator vascular integrity via its receptors (S1PR). By using genetic approaches S1PR2 antagonist (JTE013), here we show that plays critical role in induction permeability, development intracerebral haemorrhage neurovascular injury...
Fixed, paraffin-embedded (FPE) tissues are a potentially rich resource for studying the role of NOTCH1 in cancer and other pathologies, but tests that reliably detect activated (NICD1) FPE samples have been lacking. Here, we bridge this gap by developing an immunohistochemical (IHC) stain detects neoepitope created proteolytic cleavage event activates NOTCH1. Following validation using xenografted cancers normal with known patterns activation, applied test to tumors linked dysregulated Notch...
This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.cornell.edu ), an interactive online application for collaborative editing, maintenance, and sharing of structured clinical-grade cancer mutation interpretations.PMKB was built using Ruby on Rails Web framework. Leveraging existing standards such as Human Genome Variation Society variant description format, we implemented a data model that links variants to tumor-specific tissue-specific interpretations. Key...
Abstract— Sphingosine 1-phosphate (S1P), a platelet-derived ligand for the EDG-1 family of G protein–coupled receptors (GPCRs), has recently emerged as regulator vascular development. Although S1P potent effects on endothelial cells and smooth muscle (VSMCs), functions specific in latter cell type are not known. Here we show that pup-intimal VSMCs express higher levels mRNA than adult-medial VSMCs. Stable transfection into enhanced their proliferative response to S1P, concomitant with...
Therapy-related myeloid neoplasms (t-MN) represent a unique clinical syndrome occurring in patients treated with chemotherapy and/or external-beam radiation (XRT) and are characterized by poorer prognosis compared de novo disease. XRT techniques have evolved recent years associated significantly reduced bone marrow exposure. The characteristics of post-XRT t-MN the current era not been studied.We analyzed who developed acute leukemia (AML) or myelodysplastic syndromes (MDS) after alone (47...
Ongoing cancer genome characterization studies continue to elucidate the spectrum of genomic abnormalities that drive many cancers, and in clinical arena assessment driver genetic alterations patients is playing an increasingly important diagnostic and/or prognostic role for types. However, landscape still unknown less common influence specific genotypes on behavior often unclear. To address some these deficiencies, we developed Profile, a prospective cohort study obtain information all at...
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...