ArticlePediatric research2019
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome.
Article in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 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
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Article
- Reversible cold-induced lens opacity in a hibernator reveals a molecular target for treating cataracts.The Journal of clinical investigation · 2024Article
- Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.Molecular biology reports · 2021Article
- The important roles and molecular mechanisms of annexin AAnnals of translational medicine · 2021Article
- Genetic Disorders of the Glomerular Filtration Barrier.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Observational
- The Search for Biomarkers to Aid in Diagnosis, Differentiation, and Prognosis of Childhood Idiopathic Nephrotic Syndrome.Frontiers in pediatrics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApproximately 10-20% of children with idiopathic nephrotic syndrome (NS) fail to respond to steroid therapy. NS is divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). Over 45 recessive and dominant genes have been found to be associated with SRNS and/or focal segmental glomerulosclerosis (FSGS).
methodsTargeted sequencing of 339 candidate genes, expressed in glomerular filtration barrier or located in the signaling pathway of podocyte function, were sequenced by NGS in a cohort of total 89 Chinese Han children (29 sporadic SRNS, 33 sporadic SSNS, and 27 healthy).
resultsTwo variants (WT1 p.R441X and NPHS2 p.G149V) were screened out as pathogenic mutations and 14 variants were likely pathogenic. Mutations of KIRREL2 (SRNS vs SSNS: 24.1% vs 3.0%, adjusted OR = 10.11, 95% CI: 1.56-198.66, P = 0.039) were significantly associated with the risk of pediatric sporadic SRNS. Besides, three pathogenic or likely pathogenic variants were identified in HP gene.
conclusionTwo pathogenic mutations and 14 likely pathogenic mutations were discovered through targeted sequencing of 339 candidate genes. Two genes, HP and KIRREL2, as candidate genes, were first proposed to be associated with the risk of pediatric sporadic SRNS.
Indexed as
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.