ArticleAmerican journal of human genetics2014
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it, 125 citations in OpenAlex.
- Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria.Case reports in nephrology · 2026Article
- A case of Frasier syndrome achieved complete remission by cyclosporine A for steroid-resistant nephrotic syndrome.CEN case reports · 2025Article
- A recurrent de novo damaging variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.Clinical and experimental nephrology · 2025Review
- MicroRNAs in idiopathic childhood nephrotic syndrome.Clinical and experimental nephrology · 2025Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- A-to-I RNA editing shows dramatic up-regulation in osteosarcoma and broadly regulates tumor-related genes by altering microRNA target regions.Journal of applied genetics · 2023Article
- X-linked variations inJournal of medical genetics · 2023Article
- Modeling Podocyte Ontogeny and Podocytopathies with the Zebrafish.Journal of developmental biology · 2023Review
- Review
- Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.Human genomics · 2022Article
- An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2022Review
- Sex-dimorphic gene effects on survival outcomes in people with coronary artery disease.American heart journal plus : cardiology research and practice · 2022Article
- Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome.World journal of pediatrics : WJP · 2022Article
- Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis.JCI insight · 2022Article
- Trends in pediatric nephrotic syndrome.World journal of nephrology · 2021Review
- Therapeutic trials in adult FSGS: lessons learned and the road forward.Nature reviews. Nephrology · 2021Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 3 countries.
Funding
Abstract
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. We thereby detected biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. We showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. At the cellular level, we showed that knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation. Our data therefore identify EMP2 mutations as causing a recessive Mendelian form of SSNS.
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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.