ArticleKidney international2019
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Article in Kidney international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Genetic and environmental factors associated with alteration of filtration slit proteins and their functions: a scoping review.Frontiers in nephrology · 2025Pooled it
- Biallelic pathogenic variants inJournal of medical genetics · 2026Article
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- North African fox genomes show signatures of repeated introgression and adaptation to life in deserts.Nature ecology & evolution · 2023Article
- Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.Life science alliance · 2023Article
- GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to theJournal of the American Society of Nephrology : JASN · 2022Article
- Renal cell markers: lighthouses for managing renal diseases.American journal of physiology. Renal physiology · 2021Article
- A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature.Scientific reports · 2021Review
- Detrimental effects of hypoxia on glomerular podocytes.Journal of physiology and biochemistry · 2021Review
- Integrated Analysis of mRNA- and miRNA-Seq in the Ovary of Rare MinnowFrontiers in genetics · 2021Article
- Genetic Disorders of the Glomerular Filtration Barrier.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.Journal of nephrology · 2020Article
- Novel Variations in KIRREL1 Gene and Infantile Onset Nephrotic Syndrome.Indian journal of nephrologyArticle
Corrections and comments
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Authors and funding
24 authors at 8 institutions in 4 countries.
Funding
Abstract
Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell membrane, indicating defective trafficking and impaired podocytes function. Thus, the KIRREL1 gene product has an important role in modulating the integrity of the slit diaphragm and maintaining glomerular filtration function.
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