ReviewPediatric nephrology (Berlin, Germany)2022
Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.
Review in Pediatric nephrology (Berlin, Germany), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- New perspectives on thick ascending limb function and cell types.Kidney international · 2026Review
- Distinct cell types along thick ascending limb express pathways for monovalent and divalent cation transport.JCI insight · 2025Article
- HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.Genes · 2024Article
- Bartter Syndrome: Perspectives of a Pediatric Nephrologist.Electrolyte & blood pressure : E & BP · 2022Review
- Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.Annals of the New York Academy of Sciences · 2022Article
- Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The thick ascending limb plays a central role in human kidney physiology, participating in sodium reabsorption, urine concentrating mechanisms, calcium and magnesium homeostasis, bicarbonate and ammonium homeostasis, and uromodulin synthesis. This review aims to illustrate the importance of these roles from a pathophysiological point of view by describing the interactions of the key proteins of this segment and by discussing how recently identified and long-known hereditary diseases affect this segment. The descriptions of two recently described salt-losing tubulopathies, transient antenatal Bartter syndrome and HELIX syndrome, which are caused by mutations in MAGED2 and CLDN10 genes, respectively, highlight the role of new players in the modulation of sodium reabsorption the thick ascending limb.
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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.