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

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome

(2017) Chih-Jen Cheng et al.   JOURNAL OF PHYSIOLOGY-LONDON

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

(2017) Elsa Seys et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening

(2017) Maxime Louet et al.   Scientific Reports

Salt-losing nephropathy in mice with a null mutation of the Clcnk2 gene

(2016) A. Grill et al.   Acta Physiologica

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron

(2016) J. Christopher Hennings et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Plasma membrane insertion of epithelial sodium channels occurs with dual kinetics

(2016) Rafaela González-Montelongo et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking

(2015) Gabriel Stölting et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular Aspects of Structure, Gating, and Physiology of pH-Sensitive Background K2P and Kir K+-Transport Channels

(2015) Francisco V. Sepúlveda et al.   PHYSIOLOGICAL REVIEWS

Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells

(2014) Carmen Y. Chu et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Targeting kidney CLC-K channels: Pharmacological profile in a human cell line versus Xenopus oocytes

(2014) Paola Imbrici et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

NovelCLCNKBMutations Causing Bartter Syndrome Affect Channel Surface Expression

(2013) Mathilde Keck et al.   HUMAN MUTATION

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

(2013) Olga Andrini et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

(2013) Alejandro García Castaño et al.   PLoS One

Dissecting a regulatory calcium-binding site of CLC-K kidney chloride channels

(2012) Antonella Gradogna et al.   JOURNAL OF GENERAL PHYSIOLOGY

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

(2012) Sebastian Weinberger et al.   JOURNAL OF PHYSIOLOGY-LONDON

Genetic basis of Bartter syndrome in Korea

(2011) B. H. Lee et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

ClC-5 mutations associated with Dent’s disease: a major role of the dimer interface

(2011) Stéphane Lourdel et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Inter-subunit communication and fast gate integrity are important for common gating in hClC-1

(2010) Jennie M. Cederholm et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels

(2010) Antonella Gradogna et al.   JOURNAL OF GENERAL PHYSIOLOGY

Physiology and pathophysiology of ClC-K/barttin channels

(2010) Christoph Fahlke   Frontiers in Physiology

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome

(2009) Y Yu et al.   CLINICAL GENETICS

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

(2008) A. G.H. Janssen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome

(2008) Karine Brochard et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A Cytoplasmic Domain Mutation in ClC-Kb Affects Long-Distance Communication Across the Membrane

(2008) Gilbert Q. Martinez et al.   PLoS One