A5070978356- Immune Cell Function and Interaction
- Diabetes and associated disorders
- T-cell and B-cell Immunology
- RNA Interference and Gene Delivery
- Immunodeficiency and Autoimmune Disorders
- Adrenal Hormones and Disorders
- Pancreatic function and diabetes
- Renal Transplantation Outcomes and Treatments
- Developmental Biology and Gene Regulation
- CRISPR and Genetic Engineering
- Heterotopic Ossification and Related Conditions
- Immunotherapy and Immune Responses
- Olfactory and Sensory Function Studies
- Fungal Infections and Studies
- Epigenetics and DNA Methylation
- Thyroid and Parathyroid Surgery
- Bone Metabolism and Diseases
- Renal and related cancers
- Biochemical Analysis and Sensing Techniques
- Gene Regulatory Network Analysis
- CAR-T cell therapy research
- Cytomegalovirus and herpesvirus research
- Antifungal resistance and susceptibility
- Organ Transplantation Techniques and Outcomes
- Parathyroid Disorders and Treatments
University of California, San Francisco
2013-2021
University of California, San Diego
2009-2013
University of California System
2013
La Jolla Alcohol Research
2011
Human monogenic disorders have revealed the critical contribution of type 17 responses in mucosal fungal surveillance. We unexpectedly found that certain settings, enhanced 1 immunity rather than defective can promote infection susceptibility. Notably, mice and humans with
Autoimmunity targeting the lung-specific antigen BPIFB1 may be important to pathogenesis of interstitial lung disease.
Thymic central tolerance is essential to preventing autoimmunity. In medullary thymic epithelial cells (mTECs), the Autoimmune regulator (Aire) gene plays an role in this process by driving expression of a diverse set tissue-specific antigens (TSAs), which are presented and help tolerize self-reactive thymocytes. Interestingly, Aire has highly tissue-restricted pattern expression, with only mTECs peripheral extrathymic Aire-expressing (eTACs) known express detectable levels adults. Despite...
Abstract Background The Activin A and bone morphogenetic protein (BMP) pathways are critical regulators of the immune system formation. Inappropriate activation these pathways, as in conditions congenital heterotopic ossification, thought to activate an osteogenic program endothelial cells. However, if how this occurs human cells remains unclear. Methods We used a new directed differentiation protocol create induced pluripotent stem cell (hiPSC)-derived (iECs) from patients with...
Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. The objective this study was to identify the underlying genetic basis for isolated HYPO a kindred which 3 10 siblings were affected. We studied parents and three adult affected subjects, each whom diagnosed with first decade life. collected clinical biochemical data performed whole exome sequencing analysis on DNA from subjects after negative testing known causes HYPO. Whole...
Cranial malformations are a significant cause of perinatal morbidity and mortality. Iroquois homeobox transcription factors (IRX) expressed early in bone tissue formation facilitate patterning mineralization the skeleton. Mice lacking Irx5 appear grossly normal, suggesting that redundancy within family. However, global loss both Irx3 mice leads to skeletal embryonic lethality from cardiac defects. Here, we study bone-specific functions using Osx-Cre drive osteoblast lineage–specific deletion...
OBJECTIVE Multiple genome-wide association studies have identified a strong genetic linkage between the SKAP2 locus and type 1 diabetes (T1D), but how this leads to disease remains obscure. Here, we characterized functional consequence of novel coding mutation in patient with T1D gain further insight into impacts immune tolerance. RESEARCH DESIGN AND METHODS We 24-year-old individual other autoimmune inflammatory conditions. The proband first-degree relatives were recruited for whole-exome...
Abstract The mainstay of immunosuppression is Prograf (FK), Cyclosporine (CSA), and Sirolimus (SRL). These drugs target T cells which are pivotal in transplant rejection. Little known about their effects on length cell suppression once stopped. We hypothesized that reactivity would return later with SRL compared to CSA or FK. 18 health volunteers were recruited. 8 received FK, 3 CSA, 7 SRL. FK taken twice daily for 3.5 days 4 days. Drugs titrated respective troughs (FK 8-10 mg/L, 150-200...
Abstract Introduction: Systems biology is increasingly gaining importance in studying complex genome wise associations and will, future, integrate into personalized medicine. Aim: To study the effect of T cell lipotransfection by certain hub genes evaluate their role inducing anergy. Methods: Using publically available gene-gene interactions, we constructed a network using an open bioinformatics software platform for visualizing molecular interaction networks to identify following...
Abstract Systems biology is unraveling complex gene interconnections. T cell genes are upregulated during rejection. Suppression of hub and node in the genome could result hyporesponsiveness. Objective: To knockdown or via RNA interference Jurkat cells study their effect on proliferation. Methods: A molecular interaction network was built with Cytoscape using microarray data to identify genes: ATP5C1, IL6ST, PRKCZ, MYC, MAPK1 that served as targets for RNAi knockdown. lines were...
<b>OBJECTIVE: </b>Multiple genome-wide association studies (GWAS) have identified a strong genetic linkage between the <i>SKAP2</i> locus and type 1 diabetes (T1D) but how this leads to disease remains obscure. Here, we characterized functional consequence of novel coding mutation in T1D patient gain further insight into impacts immune tolerance. <p><b> </b></p> <p><b>RESEARCH DESIGN AND METHODS: </b>We 24-year-old individual...
<b>OBJECTIVE: </b>Multiple genome-wide association studies (GWAS) have identified a strong genetic linkage between the <i>SKAP2</i> locus and type 1 diabetes (T1D) but how this leads to disease remains obscure. Here, we characterized functional consequence of novel coding mutation in T1D patient gain further insight into impacts immune tolerance. <p><b> </b></p> <p><b>RESEARCH DESIGN AND METHODS: </b>We 24-year-old individual...