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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
BMC Nephrol
December 2024
Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
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.
Screening of differential gene expression patterns through survival analysis for diagnosis, prognosis and therapies of clear cell renal cell carcinoma.
PLoS One
September 2024
Department of Statistics, Bioinformatics Lab (Dry), University of Rajshahi, Rajshahi, Bangladesh.
Article Synopsis
- - Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer, and while genetic changes are linked to its development, the exact mechanisms are not fully understood.
- - Drug treatments can initially be effective, but most patients develop resistance within two years, highlighting the need for multi-target therapies and the identification of key genes involved in ccRCC.
- - Research identified 133 common differentially expressed genes, narrowed them down to 54 significant ones through survival analysis, and discovered eight key genes that are strongly associated with ccRCC progression, which could inform future treatments.
Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.
Nefrologia (Engl Ed)
August 2024
Serviço de Genética Médica, Centro Hospitalar Universitário de São João, Porto, Portugal; Unidade de Genética, Departamento de Patologia, Faculdade de Medicina, Universidade do Porto, Porto, Portugal; Grupo de Investigação e Desenvolvimento em Nefrologia e Doenças Infeciosas, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal. Electronic address:
Article Synopsis
- * A genetic study of a Portuguese family with familial juvenile hyperuricemic nephropathy discovered a large deletion in the UMOD gene linked to both CKD and hyperuricemia/gout, highlighting a new case of ADTKD-UMOD.
- * The study also identified an ultra-rare variant in the SLC8A1 gene, associated with earlier symptom onset, but the deletion's specific pathogenic mechanisms remain unclear and necessitate further investigation.
Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease.
Eur Urol Open Sci
September 2024
Department of Urology, Vanderbilt University Medical Center, Nashville, TN, USA.
Article Synopsis
- This study investigates the genetic factors contributing to kidney stone disease using a large-scale analysis of electronic health records from over 5,000 cases and 83,000 controls.
- The research identified ten significant genetic loci related to kidney stones, with the most notable one being rs28544423, which influences urinary excretion and is linked to calcium oxalate stones.
- While important genetic associations were found, the study noted some limitations including potential biases and concluded that genetic variants influence stone composition but not the severity of the disease.
Uromodulin and progression of IgA nephropathy.
Clin Kidney J
August 2024
Department of Nephrology, Institute of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: This study investigates the link between genetic variants associated with kidney function and immunoglobulin A (IgA) nephropathy (IgAN) progression.
Methods: We recruited 961 biopsy-proven IgAN patients and 651 non-IgAN end-stage renal disease (ESRD) patients from Ruijin Hospital. Clinical and renal pathological data were collected.
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