ArticleAmerican journal of human genetics1997
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
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Who cites it
49 citing papers in PubMed, 135 citations in OpenAlex.
- Case Report: Deletion in the 5' untranslated region ofFrontiers in cardiovascular medicine · 2026Article
- Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome.Stem cell reviews and reports · 2025Article
- Barth Syndrome:Genes · 2025Review
- The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility.Journal of developmental biology · 2024Article
- Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion.Biology · 2023Article
- Experimental models of Barth syndrome.Journal of inherited metabolic disease · 2022Review
- Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome.Journal of inherited metabolic disease · 2022Review
- Article
- Loss of the mitochondrial lipid cardiolipin leads to decreased glutathione synthesis.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Article
- Cardiolipin-induced activation of pyruvate dehydrogenase links mitochondrial lipid biosynthesis to TCA cycle function.The Journal of biological chemistry · 2019Article
- Mitochondrial dysfunctions in barth syndrome.IUBMB life · 2019Review
- Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2019Article
- Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome.Journal of molecular and cellular cardiology · 2018Article
- Opportunities for an enhanced integration of neuroscience and genomics.Brain imaging and behavior · 2018Review
- Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.Cardiovascular research · 2018Review
- Stent Therapy for Aortic Coarctation in Children <30 kg: Use of the Low Profile Valeo Stent.Pediatric cardiology · 2017Article
- A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.Journal of human genetics · 2017Article
- Loss of Cardiolipin Leads to Perturbation of Acetyl-CoA Synthesis.The Journal of biological chemistry · 2017Article
- Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling.Journal of rare diseases research & treatment · 2017Article
- New targets for monitoring and therapy in Barth syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees for mutations in G4.5 and have identified unique mutations in all, including four splice-site mutations, three deletions, one insertion, five missense mutations, and one nonsense mutation. Nine of the 14 mutations are predicted to significantly disrupt the protein products of G4.5. The occurrence of missense mutations in exons 3 and 8 suggests that these exons encode essential portions of the G4. 5 proteins, whose functions remain unknown. We found no correlation between the location or type of mutation and any of the clinical or laboratory abnormalities of Barth syndrome, which suggests that additional factors modify the expression of the Barth phenotype. The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.