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 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 |
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 |
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
|
25907713 |
2015 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
|
24081861 |
2014 |
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
|
24081861 |
2014 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A patient with nephrotic-range proteinuria and focal global glomerulosclerosis.
|
23886564 |
2013 |
Dent disease 1
|
0.980 |
GermlineCausalMutation
|
disease |
ORPHANET |
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
|
21305656 |
2011 |
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
|
21305656 |
2011 |
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 |
CLINVAR |
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
|
19546591 |
2009 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
|
19657328 |
2009 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Phenotype and genotype of Dent's disease in three Chinese boys.
|
19076289 |
2009 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.
|
19546586 |
2009 |
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
|
19019917 |
2009 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?
|
19806368 |
2009 |
Dent disease 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
|
19657328 |
2009 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
|
19546591 |
2009 |
Dent disease 1
|
0.980 |
GermlineCausalMutation
|
disease |
ORPHANET |
Growth hormone improves growth rate and preserves renal function in Dent disease.
|
18540256 |
2008 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Renal manifestations of Dent disease and Lowe syndrome.
|
18038239 |
2008 |
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 |
UNIPROT |
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.
|
18025833 |
2007 |
Dent disease 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.
|
18184518 |
2007 |