(Q48681667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21305656%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Heterogeneity in the processing of CLCN5 mutants related to Dent disease (English)

1 reference

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22 January 2020

1 reference

9

1 reference

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22 January 2020

Stéphane Lourdel

10

1 reference

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22 January 2020

Mathilde Keck

5

1 reference

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22 January 2020

Mathieu Genete

7

1 reference

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22 January 2020

Kamel Laghmani

8

1 reference

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22 January 2020

author name string

Teddy Grand

1

1 reference

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22 January 2020

Sébastien L'Hoste

2

1 reference

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22 January 2020

David Mordasini

3

1 reference

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22 January 2020

Nadia Defontaine

4

1 reference

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22 January 2020

Thomas Pennaforte

6

1 reference

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22 January 2020

publication date

1 April 2011

1 reference

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22 January 2020

1 reference

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22 January 2020

volume

32

1 reference

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22 January 2020

issue

4

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22 January 2020

page(s)

476-483

1 reference

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

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

CLC-0 and CFTR: chloride channels evolved from transporters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Molecular cloning and characterization of an intracellular chloride channel in the proximal tubule cell line, LLC-PK1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Gating the selectivity filter in ClC chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Protein misfolding and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

https://api.crossref.org/works/10.1002%2FHUMU.21467

Evidence for genetic heterogeneity in Dent's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

ClC-5: a chloride channel with multiple roles in renal tubular albumin uptake.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

A common molecular basis for three inherited kidney stone diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

ClC-5: role in endocytosis in the proximal tubule.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21467

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21467

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21305656%20AND%20SRC:MED&resulttype=core&format=json

release_u6ez42pqerevzaaq4kntm5hul4

22 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u6ez42pqerevzaaq4kntm5hul4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference