4 results match your criteria: "The University of Edinburgh MRC Human Genetics Unit[Affiliation]"
Genetic variation at 11q23.1 confers colorectal cancer risk by dysregulation of colonic tuft cell transcriptional activator .
Gut
November 2024
CRUK Edinburgh Centre, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK
Article Synopsis
- Common genetic variation at the 11q23.1 locus is linked to colorectal cancer risk, complicating the understanding of its mechanisms due to complex gene interactions and expression patterns.
- The study utilizes various sequencing methods and mouse models to identify key genes, especially highlighting rs3087967 as a crucial variant that influences the expression of 21 genes associated with tuft cell markers.
- The findings suggest that the risk genotype at rs3087967 leads to a deficiency in tuft cells, which are important for tumor suppression, positioning these cells as protective elements in colorectal cancer development.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet
February 2024
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
Background: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the locus.
Methods: Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the coding region.
FutureMS cohort profile: a Scottish multicentre inception cohort study of relapsing-remitting multiple sclerosis.
BMJ Open
June 2022
Anne Rowling Regenerative Neurology Clinic, The University of Edinburgh Centre for Clinical Brain Sciences, Edinburgh, UK.
Purpose: Multiple sclerosis (MS) is an immune-mediated, neuroinflammatory disease of the central nervous system and in industrialised countries is the most common cause of progressive neurological disability in working age persons. While treatable, there is substantial interindividual heterogeneity in disease activity and response to treatment. Currently, the ability to predict at diagnosis who will have a benign, intermediate or aggressive disease course is very limited.
View Article and Find Full Text PDFBiallelic variants in GLE1 with survival beyond neonatal period.
Clin Genet
December 2020
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.