ArticleJournal of human genetics2016
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.Italian journal of pediatrics · 2024Article
- An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.Cellular and molecular life sciences : CMLS · 2023Article
- High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.Frontiers in pediatrics · 2022Article
- The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.Frontiers in medicine · 2022Article
- Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.Molecular biology reports · 2021Article
- Formins in Human Disease.Cells · 2021Review
- Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature.Scientific reports · 2021Review
- Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.JCI insight · 2021Article
- The formin INF2 in disease: progress from 10 years of research.Cellular and molecular life sciences : CMLS · 2020Review
- Article
- Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.Clinical and experimental nephrology · 2019Article
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.Pediatric nephrology (Berlin, Germany) · 2018Article
- Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach.Journal of the American Society of Nephrology : JASN · 2018Review
- Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2017Article
- Review
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Steroid-resistant nephrotic syndrome (SRNS) represents glomerular disease resulting from a number of different etiologies leading to focal segmental glomerulosclerosis (FSGS). Recently, many genes causing SRNS/FSGS have been identified. These genes encode the proteins associated with the formation and/or maintenance of glomerular filtration barrier. Next-generation sequencing is used to analyze large numbers of genes at lower costs. To identify the genetic background of Japanese patients, we studied 26 disease-causing genes using whole-exome sequencing analysis in 24 patients with SRNS and/or FSGS from 22 different Japanese families. We finally found eight causative gene mutations, four recessive and four dominant gene mutations, including three novel mutations, in six patients from five different families, and one novel predisposing mutation in two patients from two different families. Causative gene mutations have only been identified in ~20% of families and further analysis is necessary to identify the unknown disease-causing gene. Identification of the disease-causing gene would support clinical practices, including the diagnosis, understanding of pathogenesis and treatment.
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