|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2).
|
24912603 |
2014 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Dent disease 1 is a rare cause of chronic kidney disease (CKD) in childhood secondary to mutations in the gene encoding the chloride-proton exchanger, CLC-5, which is found mainly in the proximal tubule.
|
27699523 |
2017 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
The disease is caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes that are located on chromosome Xp11.22 and Xq25, respectively.
|
20946626 |
2010 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Such phenotype is not unusual and is often observed also in DD1 ClC-5 mutants not associated with Bartter like phenotype.
|
30405442 |
2018 |
|
Dent disease 1
|
0.980 |
Biomarker
|
disease |
BEFREE |
Inactivating mutations of CLCN5, the gene encoding the 2Cl<sup>-</sup> /H<sup>+</sup> exchanger ClC-5, have been reported in patients with Dent disease 1.
|
29791050 |
2018 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
|
25907713 |
2015 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene.
|
18038239 |
2008 |
|
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
|
30852663 |
2020 |
|
Dent's disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Expression of ClC-5 carrying Dent's disease-associated mutations in HEK293 cells had varying effects: (1) no detectable expression of mutant protein; (2) retention of a truncated protein in the endoplasmic reticulum; or (3) diminished protein expression with normal distribution in early endosomes.
|
29058463 |
2017 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2).
|
19390221 |
2009 |
|
Dent's disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1.
|
18038239 |
2008 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ATP binding enhances the activity of ClC-5, the transporter mutated in Dent disease, a disease affecting the renal proximal tubule.
|
21173145 |
2011 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to identify CLCN5 mutations in Jewish Israeli families with Dent's disease and to characterize the associated clinical syndromes.
|
19546586 |
2009 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dent's disease (X-linked nephrolithiasis) is associated with mutations in the CLCN5 chloride channel gene, and low molecular weight (LMW) proteinuria was universally observed in affected males.
|
10620204 |
2000 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, such CLCN5 mutations that would result in a functional loss have also been demonstrated in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis, and an Italian kindred with X-linked recessive hypophosphatemic rickets (XLRH) and hypercalciuria.
|
10720930 |
2000 |
|
Dent's disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
These results reveal for the first time that the conversion of CLC-5 from a 2Cl(-)/H(+) exchanger into a Cl(-) channel induces Dent's disease in humans.
|
27044412 |
2016 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that OCRL and ClC-5, the chloride channel mutated in Dent disease, are involved in similar reabsorption pathways in the proximal tubule.
|
18480301 |
2008 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
|
29791050 |
2018 |
|
Dent's disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
|
17262170 |
2007 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We studied 31 patients showing a phenotype resembling Dent's disease but lacking any CLCN5 mutations by direct sequencing of the OCRL1 and TMEM27 genes.
|
19582483 |
2009 |
|
Dent's disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Modeling studies indicate that many CLCN5 mutations are located at the interface between the monomers of ClC-5, demonstrating that this protein region plays an important role in Dent's disease.
|
22083641 |
2012 |
|
Dent's disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Neonatal cases of Dent's disease suggest that ClC-5 distribution must be acquired before birth.
|
14675051 |
2004 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the henceforward 17 CLCN5 exons revealed no mutation in the patients with a phenotype resembling Dent's disease.
|
12886045 |
2003 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2).
|
27757584 |
2017 |
|
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
There were no differences between the 19 patients with CLCN5 mutations and the 13 without mutations with regard to any clinical features of Dent's disease.
|
15086899 |
2004 |