ArticleIndian journal of pediatrics2008
NPHS2 mutations.
Article in Indian journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.International journal of molecular sciences · 2024Pooled it
- Rituximab for refractory cases of childhood nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2011Trial
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS).
methodsSixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing.
resultsNPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations.
conclusionNPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.
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Registered trials
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