Mutation characterization and genotype-phenotype correlation in Barth syndrome. - Wikidata - awgldk - TriplyDB

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

http://www.wikidata.org/entity/Q35249958

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A novel nemaline myopathy in the Amish caused by a mutation in troponin T1 Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).The in-depth evaluation of suspected mitochondrial disease X chromosome inactivation in carriers of Barth syndrome.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.Barth syndrome is associated with a cognitive phenotype.Natural history of Barth syndrome: a national cohort study of 22 patients.Molecular diagnosis of myocardial disease.The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Barth syndrome, a human disorder of cardiolipin metabolism.Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.Glycerol-3-phosphate acyltransferases: rate limiting enzymes of triacylglycerol biosynthesis.Eponym: Barth syndrome.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Advances in the understanding of Barth syndrome.Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome.Stent Therapy for Aortic Coarctation in Children <30 kg: Use of the Low Profile Valeo Stent.New targets for monitoring and therapy in Barth syndrome.The cellular and molecular mechanisms for neutropenia in Barth syndrome.The mitochondrial quality control protein Yme1 is necessary to prevent defective mitophagy in a yeast model of Barth syndrome.Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome Preliminary evidence for a cognitive phenotype in Barth syndrome.Opportunities for an enhanced integration of neuroscience and genomics.Barth syndrome cardiomyopathy.A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

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P2860

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

http://www.wikidata.org/entity/Q35249958

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1997 nî lūn-bûn

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1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի նոյեմբերին հրատարակված գիտական հոդված

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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

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1997年論文

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1997年論文

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1997年论文

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name

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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type

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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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prefLabel

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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American Journal of Human Genetics

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Mutation characterization and genotype-phenotype correlation in Barth syndrome.

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P2093

A Feigenbaum

http://www.w3.org/2001/XMLSchema#string

G F Cox

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G S Iyer

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J Johnston

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R I Kelley

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R Proujansky

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V L Funanage

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P2860

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

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid

Endocardial fibroelastosis: possible X linked inheritance

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.

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

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

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10.1086/301604

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5

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61

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1716030

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