ArticleCurrent genomics2008
Genetics and molecular biology of tuberous sclerosis complex.
Article in Current genomics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01929642 (Rapalogues for Autism Phenotype in TSC), which is not on this map. Cited by 47 papers, 2 of them syntheses that pooled it.
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.
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2023Pooled it
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2016Pooled it
- Review
- Case Report: Patent ductus arteriosus with tuberous sclerosis complex.Frontiers in cardiovascular medicine · 2024Article
- Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- Renal Transcriptome and Metabolome in Mice with Principal Cell-Specific Ablation of the Tsc1 Gene: Derangements in Pathways Associated with Cell Metabolism, Growth and Acid Secretion.International journal of molecular sciences · 2022Article
- Assessment of disrupted brain functional connectome in tuberous sclerosis complex using resting-state fMRI.Medicine · 2022Article
- A 34-Year-Old Woman from Brazil with Pulmonary Lymphangioleiomyomatosis Diagnosed by Raised Serum Vascular Endothelial Growth Factor-D (VEGF-D) Levels and Lung Cysts on Computed Tomography Imaging Presenting with COVID-19 Pneumonia.The American journal of case reports · 2021Article
- Epilepsy in adult patients with tuberous sclerosis complex.Acta neurologica Scandinavica · 2021Article
- Role of TSC1 in physiology and diseases.Molecular and cellular biochemistry · 2021Review
- Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine.Therapeutic advances in neurological disorders · 2021Review
- Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state.Genetics and molecular biology · 2021Article
- Article
- In Silico Analyses and Cytotoxicity Study of Asiaticoside and Asiatic Acid from Malaysian Plant as Potential mTOR Inhibitors.Molecules (Basel, Switzerland) · 2020Article
- Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report.World journal of clinical cases · 2020Article
- Transcriptomic evidence that insulin signalling pathway regulates the ageing of subterranean termite castes.Scientific reports · 2020Article
- Article
- Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases.Orphanet journal of rare diseases · 2020Review
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the TSC1 or TSC2 genes. TSC1/2 genes play a fundamental role in the regulation of phosphoinositide 3-kinase (PI3K) signalling pathway, inhibiting the mammalian target of rapamycin (mTOR) through activation of the GTPase activity of Rheb. Mutations in TSC1/2 genes impair the inhibitory function of the hamartin/tuberin complex, leading to phosphorylation of the downstream effectors of mTOR, p70 S6 kinase (S6K), ribosomal protein S6 and the elongation factor binding protein 4E-BP1, resulting in uncontrolled cell growth and tumourigenesis.Despite recent promising genetic, diagnostic, and therapeutic advances in Tuberous Sclerosis Complex, continuing research in all aspects of this complex disease will be pivotal to decrease its associated morbidity and mortality. In this review we will discuss and analyse all the important findings in the molecular pathogenesis of Tuberous Sclerosis Complex, focusing on genetics and the molecular mechanisms that define this multisystemic disorder.
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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.