Publications by authors named "M Radina"
Article Synopsis
- MUC1 and UMOD pathogenic variants are linked to autosomal dominant tubulointerstitial kidney disease (ADTKD), with MUC1 associated with a significant reduction in mucin-1 production.
- A survey conducted among ADTKD patients revealed that those with ADTKD-MUC1 had a higher rate of previous COVID-19 infections and COVID-related deaths compared to ADTKD-UMOD individuals.
- The study concluded that individuals with ADTKD-MUC1 are eight times more likely to die from COVID-19, suggesting that lower mucin-1 levels may contribute to this increased risk.
Article Synopsis
- Identified a new variant (p.R79W) in the ALG5 gene linked to late-onset ADPKD in two Irish families, highlighting its impact on kidney damage and fibrosis.
- Employed whole exome and targeted sequencing along with immunohistochemistry to examine genetic segregation and protein abnormalities in kidney biopsies from affected individuals.
- Found that ALG5 dysfunction disrupts the maturation and transport of uromodulin, leading to changes in kidney structure and function, thereby confirming ALG5's role in late-onset ADPKD.
Background: and pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). is expressed in kidney, nasal mucosa and respiratory tract, while is expressed only in kidney. Due to haplo-insufficiency ADTKD- patients produce approximately 50% of normal mucin-1.
View Article and Find Full Text PDFBackground: Assessment of kidney function in emergency settings is essential across all medical subspecialties. Daily assessment of patient creatinine results from emergency medical services showed that some deviated from expected values, implying drug-related interference.
Methods: Real-time clinical evaluation of an enzyme method (Roche CREP2) in comparison with the Jaffé gen.