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

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

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

http://www.wikidata.org/entity/Q35249677

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Cardiomyopathy classification: ongoing debate in the genomics era Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.A novel custom resequencing array for dilated cardiomyopathy Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy The Role of Cardiolipin in Cardiovascular Health Barth syndrome.Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes.Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.X chromosome inactivation in carriers of Barth syndrome.Barth syndrome is associated with a cognitive phenotype.Molecular mechanisms of inherited cardiomyopathies.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Mutation characterization and genotype-phenotype correlation in Barth syndrome.Genetics of inherited cardiomyopathies.Stroke and Stroke-like Episodes in Muscle Disease.Barth syndrome, a human disorder of cardiolipin metabolism.New clinical and molecular insights on Barth syndrome Genetics of dilated cardiomyopathy.Primary myopathies and the heart.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.Eponym: Barth syndrome.Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome.Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.The cellular and molecular mechanisms for neutropenia in Barth syndrome.Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.Preliminary evidence for a cognitive phenotype in Barth syndrome.Normal pituitary function in a Japanese patient with Barth syndrome.Barth syndrome cardiomyopathy.Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

P2860

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P2860

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

http://www.wikidata.org/entity/Q35249677

description

1997 nî lūn-bûn

@nan

1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1997年の論文

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1997年論文

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1997年論文

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1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

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1997年论文

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name

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

@ast

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

@en

type

label

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

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

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prefLabel

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

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

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American Journal of Human Genetics

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

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A Gedeon

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D Toniolo

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E A Janssen

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E Haan

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E Zammarchi

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K H Orstavik

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M A Donati

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M Wilson

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P2860

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

Possible X linked congenital mitochondrial cardiomyopathy in three families

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

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

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

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

Two cases of endocardial fibroelastosis--possible x-linked determination.

Molecular genetic insights into cardiovascular disease.

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Patrizia D'Adamo

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