Dent’s disease: clinical features and molecular basis (Q37799321)

23 August 2017

title

Dent's disease: clinical features and molecular basis (English)

1 reference

23 August 2017

Dent’s disease: clinical features and molecular basis (English)

1 reference

https://api.crossref.org/works/10.1007/S00467-010-1657-0

30 July 2024

author

Felix Claverie-Martin

series ordinal

1

object named as

Félix Claverie-Martín

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:20936522

30 July 2024

2

Elena Ramos-Trujillo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:20936522

30 July 2024

author name string

Víctor García-Nieto

series ordinal

3

1 reference

23 August 2017

language of work or name

1 reference

10 October 2010

1 reference

full work available at URL

23 August 2017

http://link.springer.com/content/pdf/10.1007/s00467-010-1657-0.pdf

1 reference

https://api.crossref.org/works/10.1007/S00467-010-1657-0

http://link.springer.com/article/10.1007/s00467-010-1657-0/fulltext.html

30 July 2024

1 reference

https://api.crossref.org/works/10.1007/S00467-010-1657-0

http://link.springer.com/content/pdf/10.1007/s00467-010-1657-0

30 July 2024

1 reference

https://api.crossref.org/works/10.1007/S00467-010-1657-0

30 July 2024

1 reference

23 August 2017

volume

26

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23 August 2017

issue

5

1 reference

23 August 2017

page(s)

693-704

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HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

23 August 2017

cites work

1 reference

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Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

21 January 2018

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Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

21 January 2018

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Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?

21 January 2018

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A common molecular basis for three inherited kidney stone diseases

21 January 2018

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Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

21 January 2018

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Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.

21 January 2018

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Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

21 January 2018

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ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

21 January 2018

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Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

21 January 2018

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Mechanisms of disease: what can mouse models tell us about the molecular processes underlying Dent disease?

21 January 2018

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Physiological roles of CLC Cl(-)/H ( ) exchangers in renal proximal tubules

21 January 2018

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Dent Disease with mutations in OCRL1

21 January 2018

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Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network

21 January 2018

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Structure and function of the Lowe syndrome protein OCRL1.

21 January 2018

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The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

21 January 2018

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

21 January 2018

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

21 January 2018

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X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations

21 January 2018

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Dent-2 disease: a mild variant of Lowe syndrome

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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The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover

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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Nephrocalcinosis: molecular insights into calcium precipitation within the kidney.

21 January 2018

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Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy

21 January 2018

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Evidence for genetic heterogeneity in Dent's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

21 January 2018

1 reference

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Responsiveness of hypercalciuria to thiazide in Dent's disease

21 January 2018

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Enhanced passive Ca2 reabsorption and reduced Mg2 channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia

21 January 2018

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Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial

21 January 2018

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Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

21 January 2018

1 reference

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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

21 January 2018

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Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

21 January 2018

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Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

21 January 2018

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Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

21 January 2018

1 reference

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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease

21 January 2018

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CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

21 January 2018

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X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

21 January 2018

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Identification of homer as a homologue of the Wiskott-Aldrich syndrome protein suggests a receptor-binding function for WH1 domains

21 January 2018

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Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5

21 January 2018

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An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.

21 January 2018

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Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease

21 January 2018

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ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

21 January 2018

1 reference

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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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Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

21 January 2018

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

21 January 2018

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Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing

21 January 2018

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Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

21 January 2018

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Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

21 January 2018

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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Alu repeats and human genomic diversity

21 January 2018

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The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

21 January 2018

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Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

21 January 2018

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Phosphatidylinositol 4,5-bisphosphate functions as a second messenger that regulates cytoskeleton-plasma membrane adhesion

21 January 2018

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Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

21 January 2018

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The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin

21 January 2018

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A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

21 January 2018

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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

21 January 2018

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OCRL1 mutations in patients with Dent disease phenotype in Japan

21 January 2018

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Renal manifestations of Dent disease and Lowe syndrome

21 January 2018

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All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

21 January 2018

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Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression.

21 January 2018

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Megalin and cubilin: multifunctional endocytic receptors

21 January 2018

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Acidification of the endocytic and exocytic pathways

21 January 2018

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Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.

21 January 2018

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Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

21 January 2018

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Megalin antagonizes activation of the parathyroid hormone receptor.

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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Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells

21 January 2018

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Regulation of albumin endocytosis by PSD95/Dlg/ZO-1 (PDZ) scaffolds. Interaction of Na -H exchange regulatory factor-2 with ClC-5.

21 January 2018

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CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

21 January 2018

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Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis

21 January 2018

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Secondary active transport mediated by a prokaryotic homologue of ClC Cl- channels

21 January 2018

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Determinants of anion-proton coupling in mammalian endosomal CLC proteins

21 January 2018

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Residues important for nitrate/proton coupling in plant and mammalian CLC transporters

21 January 2018

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Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

21 January 2018

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X-linked recessive nephrolithiasis with renal failure

21 January 2018

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Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

21 January 2018

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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

21 January 2018

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12 December 2020

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

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12 December 2020

Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice

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12 December 2020

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets

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12 December 2020

Tissue distribution and subcellular localization of the ClC-5 chloride channel in rat intestinal cells

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12 December 2020

Dent disease presenting as partial Fanconi syndrome and hypercalciuria

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12 December 2020

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

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12 December 2020

CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones)

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12 December 2020

Renal Chloride Channel, CLCN5, Mutations in Dent's Disease

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12 December 2020

The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients

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12 December 2020

Chloride and sodium renal tubular handling in Dent's disease

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12 December 2020

Hypercalciuria in patients with CLCN5 mutations

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12 December 2020

Characterization of the thiazide-sensitive Na( )-Cl(-) cotransporter: a new model for ions and diuretics interaction

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12 December 2020

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

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12 December 2020

Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria

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12 December 2020

Cellular and subcellular immunolocalization of ClC-5 channel in mouse kidney: colocalization with H -ATPase

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12 December 2020

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.

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12 December 2020

Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria

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12 December 2020

cDNA cloning and localization of OCRL-1 in rabbit kidney

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12 December 2020

Positive and negative regulations of the renal 25-hydroxyvitamin D3 1alpha-hydroxylase gene by parathyroid hormone, calcitonin, and 1alpha,25(OH)2D3 in intact animals

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12 December 2020

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis

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12 December 2020

Clinical features of X-linked nephrolithiasis in childhood

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12 December 2020

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

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12 December 2020

Nonacidotic kidney proximal tubulopathy with absorptive hypercalciuria

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12 December 2020

Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America

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12 December 2020

Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

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12 December 2020

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

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12 December 2020

CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis

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12 December 2020

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

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12 December 2020

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

1 reference

12 December 2020

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87

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OM Wrong

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30 July 2024

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30 July 2024

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30 July 2024

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Isolated bovine retinal pigment epithelial cells express delayed rectifier type and M-type K currents

30 July 2024

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84

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30 July 2024

Identifiers

1 reference

23 August 2017

1 reference