A5017518965- Reproductive System and Pregnancy
- T-cell and B-cell Immunology
- Birth, Development, and Health
- Pregnancy and preeclampsia studies
- RNA regulation and disease
- Melanoma and MAPK Pathways
- NF-κB Signaling Pathways
- interferon and immune responses
- Immune Cell Function and Interaction
- Inflammasome and immune disorders
- Ubiquitin and proteasome pathways
- Cytokine Signaling Pathways and Interactions
MRC Human Immunology Unit
2016-2024
University of Oxford
2016-2024
John Radcliffe Hospital
2016-2022
MRC Weatherall Institute of Molecular Medicine
2021-2022
Medical Research Council
2016
Resolving TYK2 locus genotype-to-phenotype differences reveals an immune signaling optimum that may be exploited therapeutically for treating autoimmune diseases.
Abstract Expression of HLA-C varies widely across individuals in an allele-specific manner. This variation expression can influence efficacy the immune response, as shown for infectious and autoimmune diseases. MicroRNA binding partially influences differential expression, but additional contributing factors have remained undetermined. Here we use functional structural analyses to demonstrate that is modulated not just at RNA level, also protein level. Specifically, show exons 2 3, which...
Mixed lineage kinase domain-like (MLKL) is the main executor of necroptosis, an inflammatory form programmed cell death. Necroptosis implicated in combating infections, but also contributing to numerous other clinical conditions, including cardiovascular diseases and neurodegenerative disorders. Inhibition necroptosis therefore therapeutic interest. Here we report two siblings both whom over course 35 years developed a similar progressive, spectrum disorder characterized by paresis, ataxia...
Abstract Fetal growth restriction (FGR) affects 5–10% of pregnancies, and can have serious consequences for both mother child. Prevention treatment are limited because FGR pathogenesis is poorly understood. Genetic studies implicate KIR HLA genes in FGR, however, linkage disequilibrium, genetic influence from parents, challenges with investigating human pregnancies make the risk alleles their functional effects difficult to map. Here, we demonstrate that interaction between maternal KIR2DL1,...
ABSTRACT Background Understanding the mechanisms underlying disease progression in Multiple Sclerosis (MS) is fundamental to pave way treatment advances. Smoldering demyelinating inflammation characterized by iron deposition observed at edges of chronic active lesions and represents a relevant substrate MS. However, influence genetic factors on these not known. Leveraging importance smoldering inflammation, we assessed whether variants genes belonging iron-related pathways affect Methods We...
Abstract Intrauterine growth restriction (IUGR) of fetuses affects 5-10% pregnancies and is associated with perinatal morbidity, mortality long-term health issues. Understanding genetic predisposition to IUGR challenging, owing extensive gene polymorphisms, linkage disequilibrium, maternal paternal influence. Here, we demonstrate that the inhibitory receptor, KIR2DL1, expressed on uterine natural killer (uNK) cells, in interaction paternally-inherited HLA-C*05, an HLA-C group 2 allotype,...