ArticleAmerican journal of human genetics2015
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 119 citations in OpenAlex.
- Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from Indonesia.CEN case reports · 2026Article
- Crumbs2 acts as a dynamic cellular sensor triggering stable podocyte cell-matrix anchorage.Biophysical journal · 2026Article
- A Novel CRB2 Mutation Associated With FSGS and ESRD in an Adult Patient.Case reports in nephrology · 2026Article
- Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.Pediatric nephrology (Berlin, Germany) · 2025Article
- Xanthohumol exerts protective function on adriamycin-induced podocyte injury.European journal of nutrition · 2025Article
- The Life of a Kidney Podocyte.Acta physiologica (Oxford, England) · 2025Review
- CRB2 depletion induces YAP signaling and disrupts mechanosensing in podocytes.American journal of physiology. Renal physiology · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- The Pathogenesis of Nephrotic Syndrome: A Perspective from B Cells.Kidney diseases (Basel, Switzerland) · 2024Review
- Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.Life science alliance · 2024Article
- Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.Research square · 2024Article
- Novel variants in CRB2 targeting the malfunction of slit diaphragm related to focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2024Article
- Zebrafish as a Model to Study Retinoic Acid Signaling in Development and Disease.Biomedicines · 2023Review
- Principles of Zebrafish Nephron Segment Development.Journal of developmental biology · 2023Review
- Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.Life science alliance · 2023Article
- Modeling Podocyte Ontogeny and Podocytopathies with the Zebrafish.Journal of developmental biology · 2023Review
- Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.Acta neuropathologica communications · 2023Article
- Exome Sequencing Revealed a Novel Splice Site Variant in theMedicina (Kaunas, Lithuania) · 2022Article
- Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.Human genomics · 2022Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 4 countries.
Funding
Abstract
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS. Previously, we established a requirement for zebrafish crb2b, a conserved regulator of epithelial polarity, in podocyte morphogenesis. By characterization of a loss-of-function mutation in zebrafish crb2b, we now show that zebrafish crb2b is required for podocyte foot process arborization, slit diaphragm formation, and proper nephrin trafficking. Furthermore, by complementation experiments in zebrafish, we demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to NS in humans. These results implicate defects in podocyte apico-basal polarity in the pathogenesis of NS.
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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.