ReviewCurrent opinion in pediatrics2010
Mitochondrial genetic diseases.
Review in Current opinion in pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed.
- Article
- CRISPR/Cas9-mediated base editors and their prospects for mitochondrial genome engineering.Gene therapy · 2024Review
- Intraoperative management during liver transplantation in the child with mitochondrial depletion syndrome: A case report.International journal of surgery case reports · 2024Article
- Review
- Mitochondria in Human Fertility and Infertility.International journal of molecular sciences · 2023Article
- Review
- Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.Molecular genetics & genomic medicine · 2022Article
- Mitochondrial mutations in Caenorhabditis elegans show signatures of oxidative damage and an AT-bias.Genetics · 2021Article
- Apoptosome-dependent myotube formation involves activation of caspase-3 in differentiating myoblasts.Cell death & disease · 2020Article
- Human gene and disease associations for clinical-genomics and precision medicine research.Clinical and translational medicine · 2020Article
- Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine.Clinical and translational medicine · 2019Article
- Autologous mitochondrial microinjection; a strategy to improve the oocyte quality and subsequent reproductive outcome during aging.Cell & bioscience · 2019Review
- Altered Mitochondrial Signalling and Metabolism in Cancer.Frontiers in oncology · 2017Review
- Microhomology-mediated end joining is the principal mediator of double-strand break repair during mitochondrial DNA lesions.Molecular biology of the cell · 2016Article
- Article
- Genetics of hereditary neurological disorders in children.Translational pediatrics · 2014Review
- Finding the lost treasures in exome sequencing data.Trends in genetics : TIG · 2013Review
- Anesthetic considerations in patients with mitochondrial defects.Paediatric anaesthesia · 2013Review
- Mitochondrial genome maintenance: roles for nuclear nonhomologous end-joining proteins in Saccharomyces cerevisiae.Genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
purpose of reviewMitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion. Great strides have been made in determining the cause of mitochondrial disorders, but the clinical ability to diagnose these conditions lags behind because of phenotypic overlap between distinct genetic entities and the complexity and invasiveness of standard diagnostic testing. In this review, we evaluate new findings in mitochondrial genetics, recent developments in mitochondrial disease diagnostic testing, and emerging ideas for mitochondrial disease therapies. RECENT
findingsClinical cohort studies have revealed important themes in patient care relative to manifestations of mitochondrial disease. Significant strides have also been made toward creating embryos free from the risk of maternally inherited mitochondrial DNA-based disease. Several new genetic causes of both nuclear and mitochondrial DNA-based diseases have been identified in the past year. In addition, novel insights have emerged from basic studies of mitochondrial biology that hold promise for the development of targeted mitochondrial disease therapies. SUMMARY: Research on mitochondrial biology and disease continues to improve the clinical capacity to diagnose the heterogeneous group of mitochondrial diseases that afflict the pediatric population. This research also provides a framework for future approaches to devise effective mitochondrial disease therapies.
Indexed as
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What OpenQuestion holds
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.