(Q79687074)

English

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

scientific article published on 30 January 2007

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scholarly article

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24 December 2019

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 (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262170%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Felix Claverie-Martin

12

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24 December 2019

author name string

Elena Ramos-Trujillo

1

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24 December 2019

Hilaria González-Acosta

2

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24 December 2019

Carlos Flores

3

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24 December 2019

Víctor García-Nieto

4

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24 December 2019

Encarna Guillén

5

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24 December 2019

Salvador Gracia

6

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24 December 2019

Carmen Vicente

7

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24 December 2019

Laura Espinosa

8

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24 December 2019

Maria A Fernández Maseda

9

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24 December 2019

Fernando Santos

10

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24 December 2019

Juan A Camacho

11

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24 December 2019

publication date

30 January 2007

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24 December 2019

Journal of Human Genetics

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24 December 2019

52

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24 December 2019

3

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24 December 2019

255-261

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24 December 2019

https://scigraph.springernature.com/pub.10.1007/s10038-007-0112-y

0 references

CLC chloride channels: correlating structure with function

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and analysis of alternative splicing events conserved in human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dent Disease with mutations in OCRL1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common molecular basis for three inherited kidney stone diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The architecture of pre-mRNAs affects mechanisms of splice-site pairing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17262170

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0112-Y

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262170%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17262170%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

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