ArticleBioMed research international2014
NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.
Article in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Unveiling the role of angiogenesis-related biomarkers in diabetic nephropathy via transcriptomics.Diabetology & metabolic syndrome · 2025Article
- Computational prognostic evaluation of Alzheimer's drugs from FDA-approved database through structural conformational dynamics and drug repositioning approaches.Scientific reports · 2023Article
- Transcriptional Modulation Reveals Physiological Responses to Temperature Adaptation inInternational journal of molecular sciences · 2023Article
- Article
- A "Target Class" Screen to Identify Activators of Two-Pore Domain Potassium (K2P) Channels.SLAS discovery : advancing life sciences R & D · 2021Article
- Predictive Markers for Malignant Urothelial Transformation in Balkan Endemic Nephropathy: A Case-Control Study.Cancers · 2020Article
- Monoterpenes Differently Regulate Acid-Sensitive and Mechano-Gated KFrontiers in pharmacology · 2020Article
- Local and Systemic Oxidative Stress in Balkan Endemic Nephropathy Is Not Associated with Xanthine Oxidase Activity.Oxidative medicine and cellular longevity · 2020Article
- Expression of potassium channel genes predicts clinical outcome in lung cancer.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2019Article
- Systematic Overview of Aristolochic Acids: Nephrotoxicity, Carcinogenicity, and Underlying Mechanisms.Frontiers in pharmacology · 2019Review
- Phosphatidylinositol (4,5)-bisphosphate dynamically regulates the KScientific reports · 2017Article
- Balkan endemic nephropathy: an update on its aetiology.Archives of toxicology · 2016Review
- Aristolochic acid, a plant extract used in the treatment of pain and linked to Balkan endemic nephropathy, is a regulator of K2P channels.British journal of pharmacology · 2016Article
- Dominant-Negative Effect of a Missense Variant in the TASK-2 (KCNK5) K+ Channel Associated with Balkan Endemic Nephropathy.PloS one · 2016Article
- Ocular fundus abnormalities in patients with Balkan endemic nephropathy and other chronic kidney diseases.International urology and nephrology · 2015Article
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Authors and funding
21 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure. The results of molecular biological investigations propose that BEN is a multifactorial disease with genetic predisposition to environmental risk agents. Exome sequencing of 22 000 genes with Illumina Nextera Exome Enrichment Kit was performed on 22 DNA samples (11 Bulgarian patients and 11 Serbian patients). Software analysis was performed via NextGene, Provean, and PolyPhen. The frequency of all annotated genetic variants with deleterious/damaging effect was compared with those of European populations. Then we focused on nonannotated variants (with no data available about them and not found in healthy Bulgarian controls). There is no statistically significant difference between annotated variants in BEN patients and European populations. From nonannotated variants with more than 40% frequency in both patients' groups, we nominated 3 genes with possible deleterious/damaging variants--CELA1, HSPG2, and KCNK5. Mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.
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