A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome (Q41770047)

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29 February 2020

title

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome (English)

1 reference

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29 February 2020

1 reference

13

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29 February 2020

author name string

Yuxin Fan

1

1 reference

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29 February 2020

Jon Steller

2

1 reference

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29 February 2020

Iris L Gonzalez

3

1 reference

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29 February 2020

Wim Kulik

4

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29 February 2020

Michelle Fox

5

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29 February 2020

Richard Chang

6

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29 February 2020

Brandy A Westerfield

7

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29 February 2020

Anjan S Batra

8

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29 February 2020

Raymond Yu Jeang Wang

9

1 reference

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29 February 2020

Natalie M Gallant

10

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29 February 2020

Liana S Pena

11

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29 February 2020

Hu Wang

12

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29 February 2020

Sunita Bhuta

14

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29 February 2020

Daniel J Penny

15

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29 February 2020

Edward R McCabe

16

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29 February 2020

Virginia E Kimonis

17

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29 February 2020

language of work or name

1 reference

19 April 2013

1 reference

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Journal of Inherited Metabolic Disorders Reports

29 February 2020

published in

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29 February 2020

volume

11

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29 February 2020

page(s)

99-106

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29 February 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

SplicePort--an interactive splice-site analysis tool

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Barth syndrome, a human disorder of cardiolipin metabolism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

A Drosophila model of Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Cardiac and clinical phenotype in Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Barth syndrome: TAZ gene mutations, mRNAs, and evolution

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

The biosynthesis and functional role of cardiolipin

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Mutation characterization and genotype-phenotype correlation in Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

A novel X-linked gene, G4.5. is responsible for Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

Barth syndrome without 3-methylglutaconic aciduria.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755548

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23606313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23606313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23606313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2013_228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23606313%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23606313%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

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