ReviewThe Journal of pathology2017
New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.
Review in The Journal of pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
What it found
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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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Eosinophilic Solid and Cystic Renal Cell Carcinoma-A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2024Pooled it
- Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.Scientific reports · 2019Trial
- A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.Clinical genetics · 2026Article
- Clinical characteristics and molecular genetic analysis of 73 cases of tuberous sclerosis complex caused byFrontiers in pediatrics · 2026Article
- Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.Scientific reports · 2025Article
- Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort.Exploration of targeted anti-tumor therapy · 2025Article
- A case of tuberous sclerosis complex revealed by epilepsy.Radiology case reports · 2024Article
- Interplay between mTOR and Purine Metabolism Enzymes and Its Relevant Role in Cancer.International journal of molecular sciences · 2024Review
- Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.Orphanet journal of rare diseases · 2024Article
- Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review.Clinical, cosmetic and investigational dermatology · 2024Article
- Cardiac rhabdomyomas and cerebral lesions in 4 pediatric patients with tuberous sclerosis.Radiology case reports · 2023Article
- Identification of an Electrogenic 2ClThe American journal of pathology · 2023Article
- Cardiac self-limiting rhabdomyomas in a neonatal patient with tuberous sclerosis complex: a case report with negative genetic testing.Frontiers in pediatrics · 2023Article
- Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex.iScience · 2022Article
- Single Gene Mutations inBiology · 2022Article
- Article
- An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Review
- Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
- Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.BMC pediatrics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
In just the past 5 years, dramatic changes have occurred in the clinical management of tuberous sclerosis complex (TSC). Detailed knowledge about the role of the TSC proteins in regulating the activity of the mammalian target of rapamycin complex 1 (mTORC1) underlies this paradigm-shifting progress. Advances continue to be made in understanding the genetic pathogenesis of the different tumours that occur in TSC, including pivotal discoveries using next-generation sequencing (NGS). For example, the pathogenesis of angiofibromas is now known to involve UV-induced mutations, and the pathogenesis of multifocal renal cell carcinoma (RCC) in TSC is now known to result from distinct second-hit mutations. In parallel, the pathological features of TSC-associated tumours, including TSC-associated renal cell carcinoma, continue to be defined, despite the fact that TSC was first described 180 years ago. Here, we review recent discoveries related to the pathological features and genetic pathogenesis of TSC-associated tumours. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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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.