Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the functional consequences of 9 mutations in the CLCNKB gene causing Bartter syndrome.
|
31803959 |
2020 |
Bartter Disease
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
This is the first report of this compound heterozygous of CLCNKB gene in BS Children.
|
31409296 |
2019 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Screening by Whole Exome Sequencing (WES) and long range PCR revealed that 12/17 patients (70%) had a deletion of the entire CLCNKB gene that was previously identified as the most common cause of Bartter Syndrome in other populations.
|
30760291 |
2019 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones.
|
29254190 |
2017 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb.
|
28288174 |
2017 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, loss-of-function mutations of CLCNKB and BSND genes cause Bartter's syndrome (BS), whereas CLCNKA and CLCNKB gain-of-function polymorphisms predispose to a rare form of salt sensitive hypertension.
|
28334417 |
2017 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature.
|
25810436 |
2015 |
Bartter Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The loss-of-activation of truncated hClC-Kb channels in heterologous expression systems fully explains the reduced basolateral chloride conductance in affected kidneys and the clinical symptoms of Bartter syndrome patients.
|
26453302 |
2015 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.
|
24271511 |
2014 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
BS III is the most common genotype in Korean patients with BS and W610X is the most common CLCNKB mutation in Korean BS III.
|
23772144 |
2013 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
|
23703872 |
2013 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain.
|
24058621 |
2013 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter-Gitelman phenotype had CLCNKB mutations.
|
21865213 |
2012 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract.
|
23164417 |
2012 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
|
21479528 |
2011 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB.
|
21631963 |
2011 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The R538P mutation in ClC-Kb, which leads to Bartter's Syndrome, abolishes calcium activation of the channel.
|
18648499 |
2008 |
Bartter Disease
|
0.400 |
Biomarker
|
disease |
LHGDN |
Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
|
18094726 |
2008 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case indicated the possibility of the occurrence of digenic inheritance in BS with SND resulting from double mutations in the CLCNKA and CLCNKB genes.
|
18310267 |
2008 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is the first report to identify large heterozygous deletion mutations in the CLCNKB gene in patients with type III BS.
|
17622951 |
2007 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
This is the first report to identify large heterozygous deletion mutations in the CLCNKB gene in patients with type III BS.
|
17622951 |
2007 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
|
16902263 |
2006 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
|
16391491 |
2006 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing analysis of the chloride channel CLC-Kb gene identified a heterozygous nonsense mutation (W610X) in exon 16 indicating a diagnosis of Bartter syndrome type III.
|
15717167 |
2005 |
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The majority of patients with so-called classic Bartter syndrome carry inactivating mutations of the CLCNKB gene encoding the basolateral ClC-Kb chloride channel (Bartter syndrome type III).
|
15875219 |
2005 |