Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences
Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review.
Tian J et al.
Kidney & Blood Pressure Research, 2024
Recording Sodium Self-Inhibition of Epithelial Sodium Channels Using Automated Electrophysiology in Xenopus Oocytes.
Lawong RY et al.
Membranes, 2023
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z et al.
Archives of Endocrinology and Metabolism, 2023
Kidney ion handling genes and their interaction in blood pressure control.
An C et al.
Bioscience Reports, 2022
Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2022
Function and Regulation of the Epithelial Na+ Channel ENaC.
Rotin D et al.
Comprehensive Physiology, 2021
Epithelial Sodium Channel and Salt-Sensitive Hypertension.
Mutchler SM et al.
Hypertension (dallas, Tex. : 1979), 2021
Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating.
Wang X et al.
The Journal of Biological Chemistry, 2019
Liddle's syndrome mechanisms, diagnosis and management.
Enslow BT et al.
Integrated Blood Pressure Control, 2019
Liddle Syndrome: Review of the Literature and Description of a New Case.
Tetti M et al.
International Journal of Molecular Sciences, 2018
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
Salih M et al.
Journal of the American Society of Nephrology : Jasn, 2017
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