Dent's disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.
|
30630535 |
2019 |
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 |
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 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 |
Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction.
|
28143656 |
2017 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We found CLCN5 mutations in the vast majority of Polish patients with DD.
|
28815356 |
2017 |
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 |
Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data.
|
25792359 |
2015 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ClC-5 mutations cause Dent's disease, a renal syndrome due to defective protein reabsorption in the proximal tubule.
|
25443653 |
2015 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease.
|
23211344 |
2014 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The present study suggests that a novel frameshift mutation (c. 246delG) in exon 5 of the CLCN5 gene is responsible for Dent disease in this case.
|
24428215 |
2014 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria.
|
24398869 |
2014 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
|
25124980 |
2014 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thus, our studies, which have established human Dent disease ciPTECs that will facilitate studies of mechanisms in renal reabsorption, demonstrate that Dent disease-causing CLC-5 mutations have differing effects on endosomal acidification and receptor-mediated endocytosis that may not be coupled.
|
23572577 |
2013 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5.
|
23566014 |
2013 |
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 |
Disruption of the endosomal ClC-5 Cl(-)/H(+)-exchanger leads to proteinuria and Dent's disease.
|
23723021 |
2012 |
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 |
Biomarker
|
disease |
BEFREE |
The symptoms of Dent disease are replicated in Clcn5 knock-out mice.
|
21561868 |
2011 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study revealed distinct cellular mechanisms accounting for ClC-5 loss of function in Dent disease.
|
21305656 |
2011 |
Dent's disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney.
|
20946626 |
2010 |
Dent's disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this review, we focus on recent discoveries regarding molecular mechanisms underlying the regulated chloride:proton antiporter activity of ClC-5, the protein mutated in the Dent's disease-a kidney disease presenting with proteinuria and renal failure in severe cases.
|
20049483 |
2010 |
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 |
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 |
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 |