The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping. (Q54652076)

2 June 2018

title

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

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2 June 2018

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Felix Claverie-Martin

1

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2 June 2018

author name string

Carlos Flores

2

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2 June 2018

Montserrat Antón-Gamero

3

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2 June 2018

Hilaria González-Acosta

4

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2 June 2018

Víctor García-Nieto

5

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publication date

23 July 2005

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Journal of Human Genetics

published in

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2 June 2018

volume

50

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issue

7

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page(s)

370-374

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0265-5

exact match

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cites work

The role of the carboxyl terminus in ClC chloride channel function

1 reference

12 December 2020

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.

1 reference

12 December 2020

Dent Disease with mutations in OCRL1

1 reference

12 December 2020

Biology of mammalian L1 retrotransposons

1 reference

12 December 2020

Mutation analysis in the BRCA2 gene in primary breast cancers

1 reference

12 December 2020

Predictive identification of exonic splicing enhancers in human genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Repeats in genomic DNA: mining and meaning.

1 reference

12 December 2020

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

12 December 2020

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

12 December 2020

A common molecular basis for three inherited kidney stone diseases

1 reference

12 December 2020

Single nucleotide polymorphism-based validation of exonic splicing enhancers

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human genomic sequences that inhibit splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

1 reference

12 December 2020

The structure of a domain common to archaebacteria and the homocystinuria disease protein

1 reference

12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

12 December 2020

A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.

1 reference

12 December 2020

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

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

Alu repeats and human genomic diversity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10038-005-0265-5

Identifiers

DOI

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2 June 2018

PubMed ID

16041495

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2 June 2018