ReviewCurrent opinion in nephrology and hypertension2014
Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function.
Review in Current opinion in nephrology and hypertension, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Update on NKCC2 regulation in the thick ascending limb (TAL) by membrane trafficking, phosphorylation, and protein-protein interactions.Frontiers in physiology · 2024Review
- Aldosterone: Renal Action and Physiological Effects.Comprehensive Physiology · 2023Article
- Identification of key genes and validation of key gene aquaporin 1 on Wilms' tumor metastasis.PeerJ · 2023Article
- Inverse Salt Sensitivity of Blood Pressure: Mechanisms and Potential Relevance for Prevention of Cardiovascular Disease.Current hypertension reports · 2022Review
- Evolutionary genetics and acclimatization in nephrology.Nature reviews. Nephrology · 2021Review
- Sodium-hydrogen exchanger regulatory factor-1 (NHERF1) confers salt sensitivity in both male and female models of hypertension in aging.Life sciences · 2020Article
- A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle.BMC genomics · 2016Article
- New insights into sodium transport regulation in the distal nephron: Role of G-protein coupled receptors.World journal of biological chemistry · 2016Review
- OS9 Protein Interacts with Na-K-2Cl Co-transporter (NKCC2) and Targets Its Immature Form for the Endoplasmic Reticulum-associated Degradation Pathway.The Journal of biological chemistry · 2016Article
- Dietary potassium and the renal control of salt balance and blood pressure.Pflugers Archiv : European journal of physiology · 2015Review
- Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice.Journal of biomedical science · 2014Article
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1 author at 1 institution in 1 country.
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Abstract
purpose of reviewRecent efforts to explore the genetic underpinnings of hypertension revealed rare mutations in kidney salt transport genes contribute to blood pressure (BP) variation and hypertension susceptibility in the general population. The current review focuses on these latest findings, highlighting a discussion about the rare mutations and how they affect the transport function. RECENT
findingsRare mutations that confer a low BP trait and resistance to hypertension have recently been extensively studied. Physiological and biochemical analyses of the affected renal salt transport molecules [NKCC2 (SLC12A1), ROMK (KCNJ1), and NCC (SLC12A3)] revealed that most of the mutations do, in fact, cause a loss of transport function. The mutations disrupt the transport by many different mechanisms, including altering biosynthetic processing, trafficking, ion transport, and regulation. SUMMARY: New insights into the genetic basis of hypertension have recently emerged, supporting a major role of rare, rather than common, gene variants. Many different rare mutations have been found to affect the functions of different salt transporter genes by different mechanisms, yet all confer the same BP phenotype. These studies reinforce the critical roles of the kidney, and renal salt transport in BP regulation and hypertension.
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