A5050574230- Renal and related cancers
- Genetic Associations and Epidemiology
- Congenital heart defects research
- Renal cell carcinoma treatment
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Urological Disorders and Treatments
- Nutrition, Genetics, and Disease
- Cognitive Abilities and Testing
- Birth, Development, and Health
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Gout, Hyperuricemia, Uric Acid
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Glycosylation and Glycoproteins Research
- CRISPR and Genetic Engineering
- Genetic and Kidney Cyst Diseases
- Developmental Biology and Gene Regulation
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Genomics and Chromatin Dynamics
- Galectins and Cancer Biology
University of Edinburgh
2013-2025
Western General Hospital
2011-2025
MRC Institute of Genetics and Molecular Medicine
2012-2021
Medical Research Council
2009-2019
MRC Human Genetics Unit
2003-2017
National Institute on Aging
2015
National Institutes of Health
1988-2015
St George's, University of London
2011
Group Health Cooperative
2011
University of Bristol
2011
The Wilms' Tumour gene WT1 has important functions during development. Knock-out mice were shown to have defects in the urogenital system and die at embryonic day E13.5, probably due heart failure. Using a lacZ reporter inserted into YAC construct, we demonstrate that is expressed early proepicardium, epicardium subepicardial mesenchymal cells (SEMC). Lack of leads severe epicardial layer concomitant absence SEMCs, which explains pericardial bleeding subsequent death observed Wt1 null...
All immunoglobulin G molecules carry N-glycans, which modulate their biological activity. Changes in N-glycosylation of IgG associate with various diseases and affect the activity therapeutic antibodies intravenous immunoglobulins. We have developed a novel 96-well protein monolithic plate used it to rapidly isolate from plasma 2298 individuals three isolated human populations. N-glycans were released by PNGase F, labeled 2-aminobenzamide analyzed hydrophilic interaction chromatography...
Most internal organs are situated in a coelomic cavity and covered by mesothelium. During heart development, epicardial cells (a mesothelium) move to over the heart, undergo epithelial-mesenchymal transition (EMT), subsequently differentiate into endothelial vascular smooth muscle cells. This is thought be unique process blood vessel formation. Still,structural developmental similarities between gut led us test hypothesis that conserved or related mechanism may regulate development gut,...
Glomerular disease is one of the most common causes end-stage renal failure. Increasing evidence suggests that these glomerulopathies are frequently caused by primary lesions in podocytes. One major consequences podocyte accumulation mesangial matrix glomerular basement membrane, a process called glomerulosclerosis. Mesangial sclerosis consistent findings Denys–Drash patients and can be dominant mutations Wilms’ tumor 1 gene (WT1). The underlying mechanism, however, poorly understood. WT1...
WT1 is essential for normal kidney development, and genetic alterations are associated with Wilms’ tumor, Denys Drash (DDS), Frasier syndromes. Although generally considered a transcription factor this study has revealed that interacts an splicing factor, U2AF65, associates the machinery. alternatively spliced isoforms include three amino acids, KTS, show stronger interaction U2AF65 in vitro better colocalization factors vivo. Interestingly mutation DDS enhanced both −KTS binding to...
Over half of all proteins are glycosylated, and alterations in glycosylation have been observed numerous physiological pathological processes. Attached glycans significantly affect protein function; but, contrary to polypeptides, they not directly encoded by genes, the complex processes that regulate their assembly poorly understood. A novel approach combining genome-wide association high-throughput glycomics analysis 2,705 individuals three population cohorts showed common variants...