(Q79187803)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author

Felix Claverie-Martin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Hilaria González-Acosta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Carlos Flores

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Montserrat Antón-Gamero

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Víctor García-Nieto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

publication date

29 August 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

480-485

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14569459%20AND%20SRC:MED&resulttype=core&format=json

Alu sequences in the coding regions of mRNA: a source of protein variability

20 December 2019

cites work

1 reference

12 December 2020

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

1 reference

12 December 2020

Alu-containing exons are alternatively spliced

1 reference

12 December 2020

Active Alu element "A-tails": size does matter

1 reference

12 December 2020

A common molecular basis for three inherited kidney stone diseases

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

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

1 reference

12 December 2020

Genetic variation of recent Alu insertions in human populations

1 reference

12 December 2020

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

1 reference

12 December 2020

Repbase update: a database and an electronic journal of repetitive elements

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Biology of mammalian L1 retrotransposons

1 reference

12 December 2020

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

12 December 2020

Tandem repeats finder: a program to analyze DNA sequences

1 reference

12 December 2020

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

1 reference

12 December 2020

Molecular structure and physiological function of chloride channels

1 reference

12 December 2020

Active Alu elements are passed primarily through paternal germlines

1 reference

12 December 2020

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

1 reference

12 December 2020

Nomenclature for the description of human sequence variations

1 reference

12 December 2020

Alu repeats and human disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1 reference

12 December 2020

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus

1 reference

12 December 2020

Mutation analysis in the BRCA2 gene in primary breast cancers

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

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

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

1 reference

12 December 2020

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

12 December 2020

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

1 reference

12 December 2020

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

12 December 2020

Alu repeats and human genomic diversity

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

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

1 reference

12 December 2020

Repeats in genomic DNA: mining and meaning

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020