ArticleKidney international reports2021
Recessive Mutations in
Article in Kidney international reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Preliminary screening of urinary host protein biomarkers for Schistosomiasis haematobium: A proteome profiling study identifying candidate diagnostic targets in school-aged children.PLoS neglected tropical diseases · 2025Article
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- Article
- Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.Acta paediatrica (Oslo, Norway : 1992) · 2023Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- Maintaining proteostasis under mechanical stress.EMBO reports · 2021Review
- Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport syndrome.American journal of physiology. Renal physiology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 10 institutions in 7 countries.
Funding
Abstract
introductionMost of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy."
methodsWe performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients.
resultsWe discovered homozygous truncating and homozygous missense mutation in
conclusionWe show that SYNPO2 variants may lead to Rac1-ARP3 dysregulation, and may play a role in the pathogenesis of nephrotic syndrome.
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.