ArticleJournal of the American Society of Nephrology : JASN2013
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
Article in Journal of the American Society of Nephrology : JASN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach From the Writing Committee of the American Society for Apheresis: The Tenth Special Issue.Journal of clinical apheresis · 2026Guideline
- Article
- Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.Journal, genetic engineering & biotechnology · 2026Article
- A case of Frasier syndrome achieved complete remission by cyclosporine A for steroid-resistant nephrotic syndrome.CEN case reports · 2025Article
- Genome-wide selection signal analysis reveals copy number variation associated with litter size in Guizhou Black goat.Frontiers in veterinary science · 2025Article
- Diacylglycerol Kinases and Its Role in Lipid Metabolism and Related Diseases.International journal of molecular sciences · 2024Review
- Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?Clinical and experimental nephrology · 2024Article
- Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2023Article
- Diacylglycerol kinase epsilon protects against renal ischemia/reperfusion injury in mice through Krüppel-like factor 15/klotho pathway.Renal failure · 2022Article
- Eculizumab treatment and discontinuation in pediatric patients with atypical hemolytic uremic syndrome: a multicentric retrospective study.Journal of nephrology · 2022Article
- A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.Clinical genetics · 2022Article
- A rare cause of membranoproliferative patterns of injury in siblings with steroid-resistant nephrotic syndrome: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- New susceptible locus, rs9428555, is associated with pediatric-onset immunoglobulin A nephropathy and immunoglobulin A vasculitis in Koreans.Genes & genomics · 2021Article
- Hemolytic Uremic Syndrome in Children.Turkish archives of pediatrics · 2021Article
- Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.International journal of molecular sciences · 2021Article
- Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist.Journal of nephrology · 2021Article
- Review
- Loss of diacylglycerol kinase ε causes thrombotic microangiopathy by impairing endothelial VEGFA signaling.JCI insight · 2021Article
- A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report.BMC nephrology · 2021Article
- Nephrotic syndrome in a 7-year-old girl with atypical hemolytic uremic syndrome relapse: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
33 authors at 4 institutions in 2 countries.
Funding
Abstract
Renal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy. Furthermore, we identified two additional DGKE variants in a cohort of 142 unrelated patients diagnosed with membranoproliferative GN. This gene encodes the diacylglycerol kinase DGKε, which is an intracellular lipid kinase that phosphorylates diacylglycerol to phosphatidic acid. Immunofluorescence confocal microscopy demonstrated that mouse and rat Dgkε colocalizes with the podocyte marker WT1 but not with the endothelial marker CD31. Patch-clamp experiments in human embryonic kidney (HEK293) cells showed that DGKε variants affect the intracellular concentration of diacylglycerol. Taken together, these results not only identify a genetic cause of a glomerular microangiopathy but also suggest that the phosphatidylinositol cycle, which requires DGKE, is critical to the normal function of podocytes.
Indexed as
Identifiers
What OpenQuestion holds
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.