Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. (Q36544168)

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27 December 2019

review article

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title

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease (English)

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27 December 2019

2

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27 December 2019

author name string

Michael Ludwig

series ordinal

1

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27 December 2019

Leo A H Monnens

series ordinal

3

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27 December 2019

language of work or name

English

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publication date

20 July 2006

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Nephrology Dialysis Transplantation

27 December 2019

published in

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27 December 2019

volume

21

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27 December 2019

issue

10

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27 December 2019

page(s)

2708-2717

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HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

27 December 2019

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Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant

21 January 2018

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A second family with XLRH displays the mutation S244L in the CLCN5 gene

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Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

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Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

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Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease

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Evidence for genetic heterogeneity in Dent's disease.

21 January 2018

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Phenotype and genotype of Dent's disease in three Korean boys

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Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

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Family history may be misleading in the diagnosis of Dent's disease

21 January 2018

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Dent Disease with mutations in OCRL1

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Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.

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21 January 2018

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21 January 2018

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21 January 2018

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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines.

21 January 2018

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21 January 2018

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The urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cells

21 January 2018

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Megalin binds and internalizes angiotensin II.

21 January 2018

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Molecular structure and physiological function of chloride channels

21 January 2018

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Hypertonicity increases CLC-5 expression in mouse medullary thick ascending limb cells

21 January 2018

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Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

21 January 2018

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Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells.

21 January 2018

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Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells

21 January 2018

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Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

21 January 2018

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The loss of the chloride channel, ClC-5, delays apical iodide efflux and induces a euthyroid goiter in the mouse thyroid gland

21 January 2018

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Responsiveness of hypercalciuria to thiazide in Dent's disease

21 January 2018

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High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease

21 January 2018

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Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

21 January 2018

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X-linked recessive nephrolithiasis with renal failure

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/NDT/GFL346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16861240%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference