A5028723649- Genetics, Aging, and Longevity in Model Organisms
- Respiratory viral infections research
- Immune Response and Inflammation
- interferon and immune responses
- Ion Channels and Receptors
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Ferroptosis and cancer prognosis
- SARS-CoV-2 and COVID-19 Research
- Circadian rhythm and melatonin
- Genomic variations and chromosomal abnormalities
- Immunodeficiency and Autoimmune Disorders
- Drug Transport and Resistance Mechanisms
- Plant Stress Responses and Tolerance
- Vaccine Coverage and Hesitancy
- Cancer, Lipids, and Metabolism
- Mobile Health and mHealth Applications
- RNA modifications and cancer
- Artificial Intelligence in Healthcare and Education
- Ethics in Clinical Research
- Viral Infections and Outbreaks Research
- Autism Spectrum Disorder Research
- Protein Hydrolysis and Bioactive Peptides
- Radiomics and Machine Learning in Medical Imaging
- Digital Mental Health Interventions
Invitae (United States)
2021-2024
Southern California Clinical and Translational Science Institute
2023
University of California, Irvine
2023
BioElectronics (United States)
2018-2019
University of California, San Francisco
2002-2007
Howard Hughes Medical Institute
2002
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort 1,202 patients 0.5 99 52.9 with unexplained pneumonia. None the 331 asymptomatically or mildly infected 1.3 102 38.7 tested carry such (p = 3.5 × 10-5). The phenotypes five hemizygous relatives...
Ferroptosis is a form of programmed cell death associated with inflammation, neurodegeneration, and ischemia. Vitamin E (alpha-tocopherol) has been reported to prevent ferroptosis, but the mechanism by which this occurs controversial. To elucidate biochemical vitamin activity, we systematically investigated effects its major vitamers metabolites on lipid oxidation ferroptosis in striatal model. We found that specific endogenous metabolite E, alpha-tocopherol hydroquinone, was dramatically...
Background Mitochondrial disease is a family of genetic disorders characterized by defects in the generation and regulation energy. Epilepsy common symptom mitochondrial disease, vast majority cases, refractory to commonly used antiepileptic drugs. Ferroptosis recently-described form iron- lipid-dependent regulated cell death associated with glutathione depletion production lipid peroxides lipoxygenase enzymes. Activation ferroptosis pathway has been implicated growing number disorders,...
Abstract Biologically active peptides are synthesized from inactive pre‐proproteins or peptide precursors by the sequential actions of processing enzymes. Proprotein convertases cleave precursor at pairs basic amino acids, which then removed carboxyl terminus generated fragments a specific carboxypeptidase. Caenorhabditis elegans strains lacking proprotein convertase EGL‐3 display severely impaired neuropeptide profile ( Husson et al. 2006 , J. Neurochem. 98 1999–2012). In present study, we...
ABSTRACT Objective To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based process. Materials and Methods We developed new consent using our IRB-approved forms. leveraged previously platform (Gia®, or “Genetic Information Assistant”) deliver the chat content candidate participants. The included information about study, educational information, quiz assess understanding. analyzed 144 families referred study during 6-month time period. A...
Abstract Objective We implemented a chatbot consent tool to shift the time burden from study staff in support of national genomics research study. Materials and Methods created an Institutional Review Board-approved script for automated chat-based consent. compared data prospective participants who used or had traditional conversations with staff. Results Chat-based consent, completed on user’s schedule, was shorter than conversation. This did not lead significant change affirmative...
We evaluated the diagnostic yield using genome-slice panel reanalysis in clinical setting an automated phenotype/gene ranking system. analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as bioinformatic slices for 16 diverse, undiagnosed cases referred to Pediatric Mendelian Genomics Research Center, NHGRI-funded GREGoR Consortium site. Genome-wide was performed Moon™, a machine-learning-based tool variant prioritization. In five out of cases, we...