ArticleNPJ genomic medicine2019
Deleterious mutations in
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 29 citations in OpenAlex.
- ALDH1L2 suppresses ferroptosis-associated responses and reduces sunitinib sensitivity in renal cell carcinoma organoids.Biology direct · 2026Article
- Editorial: Mechanisms and novel therapeutic targets and approaches for mitochondrial dysfunction in neurological and cardiovascular diseases.Frontiers in physiology · 2026Article
- Probing the metabolic regulator and candidate tumor suppressor ALDH1L1 as a target for non-small cell lung cancer gene therapy.Molecular therapy. Oncology · 2025Article
- Mitochondrial One-Carbon Metabolism and Alzheimer's Disease.International journal of molecular sciences · 2024Review
- Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.Annals of clinical and translational neurology · 2024Article
- Article
- Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.Clinical genetics · 2024Article
- Review
- Network-based inference of master regulators in epithelial membrane protein 2-treated human RPE cells.BMC genomic data · 2022Article
- Article
- Therapeutic targeting of the mitochondrial one-carbon pathway: perspectives, pitfalls, and potential.Oncogene · 2021Review
- Transcriptome profiles associated with selenium-deficiency-dependent oxidative stress identify potential diagnostic and therapeutic targets in liver cancer cells.Turkish journal of biology = Turk biyoloji dergisi · 2021Article
- Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.Human genomics · 2020Article
- Mitochondrial Metabolism in Astrocytes Regulates Brain Bioenergetics, Neurotransmission and Redox Balance.Frontiers in neuroscience · 2020Review
- Cytosolic 10-formyltetrahydrofolate dehydrogenase regulates glycine metabolism in mouse liver.Scientific reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Neuro-ichthyotic syndromes are a group of rare genetic diseases mainly associated with perturbations in lipid metabolism, intracellular vesicle trafficking, or glycoprotein synthesis. Here, we report a patient with a neuro-ichthyotic syndrome associated with deleterious mutations in the
Indexed as
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.