ArticleKidney international2015
Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
Article in Kidney international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Disruption of podocyte cytoskeletal biomechanics by dasatinib leads to nephrotoxicity.Nature communications · 2019Pooled it
- Gut microbiome dysregulation is associated with segmental glomerulosclerosis in IgA nephropathy: insights from Oxford classification-based microbiome profiling.Frontiers in cellular and infection microbiology · 2026Article
- Develop and Validate a Risk Score in Predicting Renal Failure in Focal Segmental Glomerulosclerosis.Kidney diseases (Basel, Switzerland) · 2023Article
- High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.Biomedicines · 2023Article
- Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.Human genomics · 2022Article
- Formins in Human Disease.Cells · 2021Review
- Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.Journal of human genetics · 2021Article
- Role of Rho GTPase Interacting Proteins in Subcellular Compartments of Podocytes.International journal of molecular sciences · 2021Review
- Case Report: A Novel Heterozygous Mutation ofFrontiers in pediatrics · 2021Article
- The formin INF2 in disease: progress from 10 years of research.Cellular and molecular life sciences : CMLS · 2020Review
- Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation.Chinese medical journal · 2019Article
- Identification of a NovelBioMed research international · 2019Article
- Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Clinical kidney journal · 2018Article
- Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.Pediatric nephrology (Berlin, Germany) · 2018Article
- Towards precision nephrology: the opportunities and challenges of genomic medicine.Journal of nephrology · 2018Review
- Serum Response Factor Is Essential for Maintenance of Podocyte Structure and Function.Journal of the American Society of Nephrology : JASN · 2018Article
- Inverted formins: A subfamily of atypical formins.Cytoskeleton (Hoboken, N.J.) · 2017Review
- Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Frontiers of medicine · 2017Review
- Serum C3 and Renal Outcome in Patients with Primary Focal Segmental Glomerulosclerosis.Scientific reports · 2017Article
- A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.Journal of cellular and molecular medicine · 2016Article
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Authors and funding
18 authors at 3 institutions in 2 countries.
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Abstract
Here, we report a genetic study of an extended family of Chinese ancestry with focal segmental glomerulosclerosis (FSGS), with one of the affected members also concurrently diagnosed with IgA nephropathy (IgAN). By genome-wide linkage analysis and subsequent sequencing, we identified an S85W mutation in the inverted formin 2 (INF2) gene that perfectly cosegregated with the kidney disease phenotype. The entire INF2 coding region was sequenced in 200 healthy controls, 55 families with FSGS, and 34 families with IgAN. This analysis identified a novel insertion, S129_Q130insVRQLS, in another FSGS pedigree. In vitro studies found that α-actinin 4 expression was decreased and INF2 showed perinuclear localization in S85W-transfected podocytes. Phosphorylation of serum response factor, and that its nuclear translation was decreased in S85W podocytes, indicated decreased activation in mutants. Abnormal actin organization was also found in S85W podocytes, while no change of microtubule structure was observed. Co-immunoprecipitation and immunofluorescence found decreased interaction between INF2 and Cdc42 in S85W podocytes. However, all these changes were not found in S129_Q130insVRQLS podocytes. The overall frequency of INF2 mutations was ~3.6% among Chinese familial FSGS, which was considerably lower than that from studies of European FSGS families. Thus, S85W but not the S129_Q130insVRQLS variant leads to podocyte cytoskeletal abnormalities, probably by impaired serum response factor phosphorylation.
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