ArticleAmerican journal of human genetics2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed.
- Mitochondrial DNA depletion syndrome 12B: role of photon-counting computed tomography in detection of cardiac involvement-a case report.European heart journal. Case reports · 2026Article
- BiallelicBrain communications · 2025Article
- Adenine nucleotide carrier protein dysfunction in human disease.IUBMB life · 2023Review
- Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using YeastInternational journal of molecular sciences · 2023Review
- Article
- The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.JIMD reports · 2022Article
- NovelLife science alliance · 2022Article
- Investigating the Broad Matrix-Gate Network in the Mitochondrial ADP/ATP Carrier through Molecular Dynamics Simulations.Molecules (Basel, Switzerland) · 2022Article
- Review
- A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with DominantInternational journal of molecular sciences · 2021Article
- Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?Developmental neuroscience · 2021Review
- SRGN, a new identified shear-stress-responsive gene in endothelial cells.Molecular and cellular biochemistry · 2020Article
- Consequences of inner mitochondrial membrane protein misfolding.Mitochondrion · 2019Review
- Cardiomyopathy-associated mutation in the ADP/ATP carrier reveals translation-dependent regulation of cytochrome c oxidase activity.Molecular biology of the cell · 2018Article
- Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.Journal of clinical neuromuscular disease · 2018Article
- An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Journal of inherited metabolic disease · 2018Article
- Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.Neurogenetics · 2017Article
- De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.American journal of human genetics · 2017Article
Corrections and comments
- Erratum for
Authors and funding
28 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
Identifiers
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.