ReviewPflugers Archiv : European journal of physiology2011
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
Review in Pflugers Archiv : European journal of physiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 64 citations in OpenAlex.
- Stimulation of basolateral calcium-sensing receptor inhibits Kir4.1/Kir5.1 in the mouse distal convoluted tubule.American journal of physiology. Renal physiology · 2026Article
- The key mediator of diabetic kidney disease: Potassium channel dysfunction.Genes & diseases · 2024Review
- A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.The American journal of case reports · 2024Article
- Potassium and the kidney: a reciprocal relationship with clinical relevance.Pediatric nephrology (Berlin, Germany) · 2022Review
- Inwardly rectifying KAmerican journal of physiology. Cell physiology · 2022Review
- How Many Cell Types Are in the Kidney and What Do They Do?Annual review of physiology · 2022Review
- EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.Frontiers in physiology · 2022Review
- Renal calcium and magnesium handling in Gitelman syndrome.American journal of translational research · 2022Review
- Hereditary kidney diseases associated with hypomagnesemia.Kidney research and clinical practice · 2021Article
- The interplay of renal potassium and sodium handling in blood pressure regulation: critical role of the WNK-SPAK-NCC pathway.Journal of human hypertension · 2019Review
- Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.Kidney international · 2017Article
- Genetic causes of hypomagnesemia, a clinical overview.Pediatric nephrology (Berlin, Germany) · 2017Review
- Potassium Sensing by Renal Distal Tubules Requires Kir4.1.Journal of the American Society of Nephrology : JASN · 2017Article
- Inherited and acquired disorders of magnesium homeostasis.Current opinion in pediatrics · 2017Review
- Of dogs and men.European journal of human genetics : EJHG · 2017Article
- Extracellular KThe Journal of physiology · 2016Article
- Basolateral Kir4.1 activity in the distal convoluted tubule regulates K secretion by determining NaCl cotransporter activity.Current opinion in nephrology and hypertension · 2016Review
- Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.Molecular genetics & genomic medicine · 2016Article
- EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.Rare diseases (Austin, Tex.) · 2016Review
- Vasopressin-induced stimulation of the Na(+)-activated K(+) channels is responsible for maintaining the basolateral K(+) conductance of the thick ascending limb (TAL) in EAST/SeSAME syndrome.Biochimica et biophysica acta · 2015Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.
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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.