Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome (Q34858031)

4 August 2017

title

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome (English)

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4 August 2017

Yi-Fen Lo

1

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4 August 2017

Kandai Nozu

2

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4 August 2017

Kazumoto Iijima

3

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4 August 2017

Takahiro Morishita

4

1 reference

4 August 2017

Che-Chung Huang

5

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4 August 2017

Sung-Sen Yang

6

1 reference

4 August 2017

Huey-Kang Sytwu

7

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4 August 2017

Yu-Wei Fang

8

1 reference

4 August 2017

Min-Hua Tseng

9

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4 August 2017

Shih-Hua Lin

10

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4 August 2017

publication date

4 November 2010

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Clinical Journal of the American Society of Nephrology

4 August 2017

published in

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4 August 2017

volume

6

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4 August 2017

issue

3

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4 August 2017

page(s)

630-639

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SPAK-knockout mice manifest Gitelman syndrome and impaired vasoconstriction

4 August 2017

cites work

1 reference

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A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome

8 July 2018

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Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

8 July 2018

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A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

8 July 2018

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8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

8 July 2018

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Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data

8 July 2018

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Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations

8 July 2018

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Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters.

8 July 2018

1 reference

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Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

8 July 2018

1 reference

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Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes.

8 July 2018

1 reference

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Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

A new familial disorder characterized by hypokalemia and hypomagnesemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3082423

Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome

26 October 2018

1 reference

12 December 2020

From bench to bedside: diagnosis of Gitelman's syndrome -- defect of sodium-chloride cotransporter in renal tissue

1 reference

12 December 2020

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome

1 reference

12 December 2020

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model

1 reference

12 December 2020

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes

1 reference

12 December 2020

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

12 December 2020

Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome

1 reference

12 December 2020

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

1 reference

12 December 2020

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

1 reference

12 December 2020

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

12 December 2020

Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.06730810

1 reference

4 August 2017

1 reference

4 August 2017

1 reference