|
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 |
Biomarker
|
disease |
BEFREE |
However, the relationship between the alterations in the NO signalling system observed in this study and the mutations in either Na+-K+-2Cl cotransporter or in a K+ channel ROMK or in Cl- channel ClCNKB in Bartter's syndrome and in Na+-Cl- cotranstransporter in Gitelman's syndrome, recently reported as their primary defects remains to be defined.
|
9988141 |
1999 |
|
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 |
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 |
Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.
|
15056980 |
2004 |
|
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Bartter syndrome type 3: an unusual cause of nephrolithiasis.
|
11865110 |
2002 |
|
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 |
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 |
The R538P mutation in ClC-Kb, which leads to Bartter's Syndrome, abolishes calcium activation of the channel.
|
18648499 |
2008 |
|
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 |
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 |
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 |
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
|
12574213 |
2003 |
|
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 |
Genetic evidence suggests their involvement in transepithelial transport of chloride in distal nephron segments; ClC-K1 gene deletion leads to nephrogenic diabetes insipidus in mice, and mutations of the hClC-Kb gene cause Bartter's syndrome type III in humans.
|
10831588 |
2000 |
|
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Our findings demonstrate intrafamilial heterogeneity, namely the presence of GS and CBS phenotypes, in a kindred with the CLCNKB R438H mutation.
|
12472765 |
2003 |
|
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Importantly, there appears to be a phenotypic difference between subjects with Bartter's syndrome due to CLCKB abnormalities and those with NKCC2 or ROMK1 mutations.
|
9519207 |
1998 |
|
Bartter Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria.
|
15531551 |
2004 |
|
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 |
Biomarker
|
disease |
BEFREE |
Thus, the mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.
|
12761627 |
2003 |
|
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 |
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
|
23703872 |
2013 |
|
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 |
We investigated the functional consequences of 9 mutations in the CLCNKB gene causing Bartter syndrome.
|
31803959 |
2020 |
|
Bartter Disease
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations of another voltage-gated chloride channel, CLC-Kb, are associated with a form of Bartter's syndrome, whereas other forms of Bartter's syndrome are caused by mutations in the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel, ROMK.
|
10561751 |
1999 |