Associated Papers
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.
Bignon Y et al.
Human Mutation, 2020
[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].
Li L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.
Zhang C et al.
Clinical Genetics, 2013
A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.
Gradogna A et al.
The Journal of General Physiology, 2010
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.
Yu Y et al.
Clinical Genetics, 2010
Physiology and pathophysiology of ClC-K/barttin channels.
Fahlke C et al.
Frontiers in Physiology, 2010
A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.
Martinez GQ et al.
Plos One, 2008
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2000
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