A5012733330- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Complement system in diseases
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Hemoglobinopathies and Related Disorders
- Eosinophilic Disorders and Syndromes
- Kruppel-like factors research
- Platelet Disorders and Treatments
- Renal Diseases and Glomerulopathies
- Congenital heart defects research
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Cytokine Signaling Pathways and Interactions
- Iron Metabolism and Disorders
- Systemic Lupus Erythematosus Research
- Blood groups and transfusion
- Pancreatic function and diabetes
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hearing, Cochlea, Tinnitus, Genetics
- Pregnancy and preeclampsia studies
- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- Cancer Genomics and Diagnostics
- Digestive system and related health
- Diabetes Treatment and Management
Incyte (United States)
2023-2025
Johns Hopkins University
2015-2024
University of Baltimore
2024
Johns Hopkins Medicine
2013-2023
Johns Hopkins Hospital
2021-2022
Sidney Kimmel Comprehensive Cancer Center
2015-2022
National Heart Lung and Blood Institute
2018
National Center for Advancing Translational Sciences
2018
Sidney Kimmel Cancer Center
2015
Albert Einstein College of Medicine
2005-2009
Villin, an actin bundling protein found in the apical brush border of absorptive tissues, is one first structural genes to be transcriptionally activated embryonic intestinal endoderm. In adult, villin broadly expressed every cell epithelium on both vertical axis (crypt villus tip) and horizontal (duodenum through colon) intestine. Here, we document that a 12.4-kilobase region mouse gene drives high level expression two different reporter (LacZ Cre recombinase) within entire transgenic mice....
Efficient and precise genome editing is crucial for realizing the full research therapeutic potential of human induced pluripotent stem cells (iPSCs). Engineered nucleases including CRISPR/Cas9 transcription activator like effector (TALENs) provide powerful tools enhancing gene-targeting efficiency. In this study, we investigated relative efficiencies TALENs in iPSC lines inducing both homologous donor-based nonhomologous end joining (NHEJ)-mediated gene disruption. Significantly higher...
The 22q11 deletion (22q11DS; velo-cardio-facial syndrome/DiGeorge syndrome) is characterized by defects in the derivatives of pharyngeal apparatus. Mouse genetic studies have identified Tbx1, a member T-box family transcription factors, as being responsible for physical malformations syndrome. Mice heterozygous null mutation Tbx1 mild anomalies, whereas homozygous mutants die at birth with severe apparatus, including cleft palate, thymus gland aplasia and cardiac outflow tract malformations....
Abstract Complement inhibition has shown promise in various disorders, including COVID‐19. A prediction tool complement genetic variants is vital. This study aims to identify crucial complement‐related and determine an optimal pattern for accurate disease outcome prediction. Genetic data from 204 COVID‐19 patients hospitalized between April 2020 2021 at three referral centres were analysed using artificial intelligence‐based algorithm predict (ICU vs. non‐ICU admission). recently introduced...
Fatty acid translocase (FAT)/CD36 is one of several putative plasma membrane long-chain fatty (LCFA) transport proteins; however, its role in intestinal absorption LCFA unknown. We hypothesized that FAT/CD36 would be differentially expressed along the longitudinal axis gut and during development, suggesting specificity function. found mucosal mRNA levels varied by anatomic location axis: stomach 45 +/- 7, duodenum 173 29, jejunum 238 17, ileum 117 14, colon 9 1% (means SE with 18S as...
BACKGROUND. HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is a severe variant of hypertensive disorders pregnancy affecting approximately 1% all pregnancies, has significant maternal fetal morbidity. Previously, we showed that upregulation the alternative pathway complement (APC) plays role in syndrome. We hypothesize follows 2-hit disease model similar to atypical hemolytic uremic (aHUS), requiring both genetic susceptibility an environmental risk factor. Our...
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) may manifest as thrombosis, stroke, renal failure, myocardial infarction, and thrombocytopenia, reminiscent of other complement- mediated diseases. Multiple clinical preclinical studies have implicated complement in the pathogenesis COVID-19 illness. We previously found that SARS-CoV-2 spike protein activates alternative pathway (APC) vitro through interfering with function factor H, a key negative regulator APC. Here, we...
Most 22q11.2 deletion syndrome (22q11DS) patients have middle and outer ear anomalies, whereas some inner malformations. Tbx1 , a gene hemizygously deleted in 22q11DS required for development, is expressed multiple tissues during embryogenesis. To determine the role of first pharyngeal pouch (PPI) forming ears, we tissue-specifically inactivated using Foxg1-Cre. In conditional mutants, PPI failed to outgrow, preventing bone condensations from forming. was also otic vesicle (OV), resulting...
The factors underlying the variable presentation and clinical course of myeloproliferative neoplasms (MPNs) remain unclear. aim this study was to evaluate independent effect sex on MPN outcomes. A total 815 patients with essential thrombocytosis, polycythemia vera, or primary myelofibrosis were evaluated between 2005 2019, association presenting phenotype, JAK2 V617F burden, progression, survival examined. Men presented more often vs thrombocytosis (relative risk, 3.2; P < .001) vera 2.1;...
Abstract Background Thrombotic thrombocytopenic purpura (TTP) is a life‐threatening disorder characterized by thrombocytopenia, microangiopathic hemolysis, and ischemic organ failure. The PLASMIC French TTP scores can help guide clinical decisions when ADAMTS13 testing not immediately available. Older individuals often present atypically, but the impact of age on these tools known. Study Design Methods We calculated sensitivity specificity in patients enrolled Johns Hopkins thrombotic...
Severe COVID-19 is characterized by a prothrombotic state associated with thrombocytopenia, microvascular thrombosis being almost invariably present in the lung and other organs at postmortem examination. We evaluated presence of antibodies to platelet factor 4 (PF4)-polyanion complexes using clinically validated immunoassay 100 hospitalized patients moderate or severe disease (World Health Organization score, 10), 25 acute visiting emergency department, 65 convalescent individuals. Anti-PF4...
Summary The aim of this study was to compare the genomic features and clinical outcomes between paediatric young adult patients (PAYA, <40 years) older adults (OA, ≥40 with myeloproliferative neoplasms (MPN) gain insight into pathogenesis, disease prognosis management. Of 630 MPN patients, 171 (27%) were PAYA an average age at diagnosis 31 years. Females more prevalent in than OA (71% vs 58%; p = 0.002), frequently presented essential thrombocytosis (ET) (67% 39%; < 0.001). presence a...
Healthcare resource utilization (HCRU) and costs are often elevated in patients with polycythemia vera (PV), this patient population has an increased risk of developing thromboembolic events (TEs). This study describes HCRU, costs, mortality during TE-related hospitalizations among PV a contemporary real-world setting the United States. retrospective cohort included adult inpatients TE discharged from 623 hospitals between January 1, 2017, June 30, 2020 2-year follow-up period after first...
In vertebrates, the inner ear is comprised of cochlea and vestibular system, which develop from otic vesicle. This process regulated via inductive interactions surrounding tissues. Tbx1, gene responsible for velo-cardio-facial syndrome/DiGeorge syndrome in humans, required development mice. Tbx1 expressed epithelium adjacent periotic mesenchyme (POM), both these domains are formation. To study function POM, we have conditionally inactivated mesoderm while keeping expression vesicle...