A5090008187- Mast cells and histamine
- Urticaria and Related Conditions
- Immunodeficiency and Autoimmune Disorders
- Food Allergy and Anaphylaxis Research
- Polyamine Metabolism and Applications
- Ion channel regulation and function
- Eosinophilic Disorders and Syndromes
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Helicobacter pylori-related gastroenterology studies
- Biotin and Related Studies
- IL-33, ST2, and ILC Pathways
- Receptor Mechanisms and Signaling
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- NF-κB Signaling Pathways
- Hemoglobinopathies and Related Disorders
- Gastrointestinal motility and disorders
- Click Chemistry and Applications
- Drug-Induced Adverse Reactions
- Obsessive-Compulsive Spectrum Disorders
- Blood groups and transfusion
- Neurotransmitter Receptor Influence on Behavior
- Antifungal resistance and susceptibility
National Institute of Allergy and Infectious Diseases
2017-2023
National Institutes of Health
2017-2023
University of Wisconsin–Madison
2020
Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms, most notably systemic mastocytosis, where basal serum (BST) levels >20 ng/mL are minor criterion for diagnosis. Although clonal neoplasms rare, common cause elevated BST genetic trait hereditary α-tryptasemia (HαT) caused by increased germline TPSAB1 copy number. To date, precise structural variation and mechanism(s) underlying HαT general clinical utility genotyping, remain undefined. Through...
Invasive candidiasis frequently involves medical device placement. On the surfaces of these devices, Candida can form biofilms and proliferate in adherent layers fungal cells surrounded by a protective extracellular matrix. Due part to this matrix, resist host defenses antifungal drugs. Previous work (using neutrophils from healthy donors) found that one mechanism employed inhibition neutrophil traps (NET) formation. NETs contain nuclear DNA, as well antimicrobial proteins ensnare pathogens...
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused increased α-tryptase-encoding TPSAB1 copy number. HαT affects 5% to 7% of Western populations and has been associated with joint hypermobility. Hypermobility disorders are likewise frequently AD, but etiologies often elusive. Genotyping individuals hypermobility spectrum disorder (n = 132), hypermobile Ehlers-Danlos syndrome 78), or axial skeletal...
Abstract Germline duplications or triplications of alpha-tryptase encoding sequence at TPSAB1 have been linked to elevated basal serum tryptase and are estimated effect approximately 5% the general population. However, no assay currently exists quantify specific alpha- beta-tryptase gene expression. Using a similar bioinformatic approach what we used when designing sequence-specific genotyping assay, developed novel ddPCR able specifically this then interrogated cultured primary human mast...
ABSTRACT Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms, most notably systemic mastocytosis, where baseline (BST) levels >20 ng/mL are minor criterion for diagnosis. Whereas clonal neoplasms rare, common cause elevated BST genetic trait hereditary alpha-tryptasemia (HαT) caused by increased germline TPSAB1 copy number. To date, precise structural variation and mechanism(s) underlying HαT general clinical utility genotyping, remain undefined....
Abstract Hereditary a-tryptasemia (HaT) is a genetic trait defined by elevated serum tryptase caused increased TPSAB1 copy number and associated with multiple phenotypes including pain. CACNA1H encoding the voltage-gated calcium channel Ca V3.2 overlaps locus where partial gain-of-function (GOF) haplotype containing 3 linked variants has been shown to be co-inherited HaT in ~2/3 of individuals. While expressed neurons it contributes pain perception, expression also observed other cells. Mast...