ArticleAmerican journal of human genetics2019
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- A Systematic Review of Proteomics in Obesity: Unpacking the Molecular Puzzle.Current obesity reports · 2024Pooled it
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Two Cases of Hereditary Paraganglioma-Pheochromocytoma Syndrome in Siblings, Caused by a Novel Succinate Dehydrogenase Complex Subunit D Variant.IJU case reports · 2026Article
- Citric Acid Cycle Genes and Nutrigenetics.International journal of molecular sciences · 2026Review
- Bilateral pheochromocytoma: case series and review of treatment strategies based on genetic mutations.Translational andrology and urology · 2026Article
- The genetics of hypertension.Nature reviews. Nephrology · 2026Review
- The evolving roles of pathologists in paragangliomas and pheochromocytomas.Virchows Archiv : an international journal of pathology · 2026Review
- Article
- Screening and validating genes associated with cuproptosis in systemic lupus erythematosus by expression profiling combined with machine learning.Biomolecules & biomedicine · 2025Article
- Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Hypoxia-inducible factor in cancer: from pathway regulation to therapeutic opportunity.BMJ oncology · 2024Review
- Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management challenges.Frontiers in oncology · 2024Article
- A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide.Clinical epigenetics · 2023Article
- Identification of a novel cuproptosis-related gene signature for multiple myeloma diagnosis.Immunity, inflammation and disease · 2023Article
- Article
- DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling.Cancer communications (London, England) · 2023Article
- L-2hydroxyglutaric acid rewires amino acid metabolism in colorectal cancer via the mTOR-ATF4 axis.Oncogene · 2023Article
- Recurrent Disease in Patients With Sporadic Pheochromocytoma and Paraganglioma.The Journal of clinical endocrinology and metabolism · 2023Article
- Tumour microenvironment in pheochromocytoma and paraganglioma.Frontiers in endocrinology · 2023Review
- Personalized Management of Pheochromocytoma and Paraganglioma.Endocrine reviews · 2022Review
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pheochromocytomas and paragangliomas (PPGLs) provide some of the clearest genetic evidence for the critical role of metabolism in the tumorigenesis process. Approximately 40% of PPGLs are caused by driver germline mutations in 16 known susceptibility genes, and approximately half of these genes encode members of the tricarboxylic acid (TCA) cycle. Taking as a starting point the involvement of the TCA cycle in PPGL development, we aimed to identify unreported mutations that occurred in genes involved in this key metabolic pathway and that could explain the phenotypes of additional individuals who lack mutations in known susceptibility genes. To accomplish this, we applied a targeted sequencing of 37 TCA-cycle-related genes to DNA from 104 PPGL-affected individuals with no mutations in the major known predisposing genes. We also performed omics-based analyses, TCA-related metabolite determination, and
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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.