Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
about
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiencyBarth syndrome.Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular FunctionCellular functions of cardiolipin in yeastPossible X linked congenital mitochondrial cardiomyopathy in three familiesMale neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.Genetic ablation of calcium-independent phospholipase A2gamma leads to alterations in mitochondrial lipid metabolism and function resulting in a deficient mitochondrial bioenergetic phenotypeA high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.X chromosome inactivation in carriers of Barth syndrome.Barth syndrome is associated with a cognitive phenotype.Natural history of Barth syndrome: a national cohort study of 22 patients.The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.Mutation characterization and genotype-phenotype correlation in Barth syndrome.Cardiac metabolic pathways affected in the mouse model of barth syndrome.Cardiolipin and mitochondrial phosphatidylethanolamine have overlapping functions in mitochondrial fusion in Saccharomyces cerevisiaeA novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth SyndromeGene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome.The cellular and molecular mechanisms for neutropenia in Barth syndrome.Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth.Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.Substantial Decrease in Plasmalogen in the Heart Associated with Tafazzin Deficiency.Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells.
P2860
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P2860
Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
description
1991 nî lūn-bûn
@nan
1991 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մարտին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@ast
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@en
type
label
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@ast
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@en
prefLabel
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@ast
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@en
P2093
P2860
P1476
Mapping of the locus for X-lin ...... ndria (Barth syndrome) to Xq28
@en
P2093
P2860
P304
P407
P577
1991-03-01T00:00:00Z