ArticleJournal of the American Society of Nephrology : JASN2011
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
Article in Journal of the American Society of Nephrology : JASN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed, 108 citations in OpenAlex.
- Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.The Journal of clinical investigation · 2020Trial
- Clinical course of proteinuria due to cubilin variants: a large multicenter pediatric cohort.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical and Genetic Insights Into Isolated Proteinuria WithKidney international reports · 2026Article
- Tubulointerstitial inflammation and fibrosis induced by proteinuria: fresh insights.Frontiers in pharmacology · 2026Review
- Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.Pediatric nephrology (Berlin, Germany) · 2025Review
- Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.Kidney medicine · 2025Article
- Identification of CUBN variants in triplets with a 20-year history of proteinuria.CEN case reports · 2025Article
- To treat or not to treat: CUBN-associated persistent proteinuria.Kidney research and clinical practice · 2024Article
- A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations.Kidney medicine · 2024Article
- Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.Molecular genetics & genomic medicine · 2024Article
- Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.Orphanet journal of rare diseases · 2023Review
- Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.Acta paediatrica (Oslo, Norway : 1992) · 2023Article
- Isolated benign persistent proteinuria with novel association ofClinical case reports · 2023Article
- Clinical and genetic characterization of children with cubilin variants.Pediatric nephrology (Berlin, Germany) · 2023Article
- AThe Journal of international medical research · 2023Article
- Albumin uptake and processing by the proximal tubule: physiological, pathological, and therapeutic implications.Physiological reviews · 2022Review
- CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.BMC nephrology · 2022Article
- Fanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn-Occam's razor or Hickam's dictum? Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney international reports · 2021Article
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 4 countries.
Funding
Abstract
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B(12)-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule. In summary, we report successful use of exome capture and massively parallel re-sequencing to identify a rare, single-gene cause of nephropathy.
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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.