project Are mutations in UBR4 associated with Long QT syndrome or other cardiac arrhythmias in the 100K dataset? 11 Jul 202411 Jul 2024 Genomics England Research Registry ID: 257 Registered: 23/09/2019 Expert Summary UBR4 is a single copy gene that is highly conserved across kingdoms. Recent work has shown that the plant homologue…
project Investigating the impact of pathogenic non-coding variants in CYP21A2 on circadian steroidogenesis in congenital adrenal hyperplasia 11 Jul 202411 Jul 2024 Genomics England Research Registry ID: 1107 Registered: 08/05/2024 Expert Summary Congenital adrenal hyperplasia (CAH) refers to several disorders of biosynthesis of the steroid hormones cortisol and aldosterone. CAH is inherited in…
project Enrichment analysis of associated disease and circadian genes in rheumatoid arthritis 11 Jul 2024 Genomics England Research Registry ID: 1090 Registered: 25/03/2024 Expert summary Rheumatoid arthritis (RA) is a chronic, systemic inflammatory autoimmune disease characterised by synovial hyperplasia, cartilage and subchondral bone destruction, and…
Chronomic Medicine Group 