(Q44691966)

English

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

scientific article published on 13 December 2003

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scholarly article

1 reference

Europe PubMed Central

5 December 2017

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 (English)

1 reference

Europe PubMed Central

5 December 2017

white blood cell

1 reference

based on heuristic

inferred from title

author name string

Monica Forino

1

1 reference

Europe PubMed Central

5 December 2017

Romina Graziotto

2

1 reference

Europe PubMed Central

5 December 2017

Enrica Tosetto

3

1 reference

Europe PubMed Central

5 December 2017

Giovanni Gambaro

4

1 reference

Europe PubMed Central

5 December 2017

Angela D'Angelo

5

1 reference

Europe PubMed Central

5 December 2017

Franca Anglani

6

1 reference

Europe PubMed Central

5 December 2017

publication date

13 December 2003

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Europe PubMed Central

5 December 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

Journal of Human Genetics

1 reference

Europe PubMed Central

5 December 2017

49

1 reference

Europe PubMed Central

5 December 2017

1

1 reference

Europe PubMed Central

5 December 2017

53-60

1 reference

Europe PubMed Central

5 December 2017

https://scigraph.springernature.com/pub.10.1007/s10038-003-0108-1

0 references

The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10038-003-0108-1

21 January 2018

Molecular structure and physiological function of chloride channels

1 reference

https://api.crossref.org/works/10.1007%2FS10038-003-0108-1

21 January 2018

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

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New ways of initiating translation in eukaryotes?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Internal initiation of translation in eukaryotes: the picornavirus paradigm and beyond

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the 5' untranslated region of an mRNA in translation regulation during development

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splicing regulation as a potential genetic modifier

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitation of TGF-beta1 mRNA in porcine mesangial cells by comparative kinetic RT/PCR: comparison with ribonuclease protection assay and in situ hybridization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A proinsulin gene splice variant with increased translation efficiency is expressed in human pancreatic islets

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary stone formation: Dent's disease moves understanding forward.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A computational analysis of sequence features involved in recognition of short introns

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparative kinetic RT/-PCR strategy for the quantitation of mRNAs in microdissected human renal biopsy specimens

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrarenal and subcellular localization of rat CLC5

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Internal ribosome initiation of translation and the control of cell death.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new disease-causing mutation in the GAP-related domain of the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 5' untranslated region of protein kinase Cdelta directs translation by an internal ribosome entry segment that is most active in densely growing cells and during apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of the human CLC-5 chloride channel gene promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14673707

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-003-0108-1

1 reference

Europe PubMed Central

5 December 2017

1 reference

Europe PubMed Central

5 December 2017

ResearchGate publication ID

0 references

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