ArticleFrontiers in genetics2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.Molecular genetics & genomic medicine · 2026Article
- Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelicFrontiers in oncology · 2026Article
- Article
- Identification of a novel TSC1 gene variant in a patient with atypical vitiligo-like skin lesions: Unveiling the hidden tuberous sclerosis complex.Molecular genetics & genomic medicine · 2024Article
- Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.Journal of clinical medicine · 2023Article
- Article
- A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma.International journal of oncology · 2022Article
- Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.Orphanet journal of rare diseases · 2022Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that occurs between 1 in 6,000 and 1 in 10,000 live births. Additionally, renal angiomyolipoma is the most common form of renal disease in patients affected by TSC. Although a genetic mutation analysis of TSC is not rare, the correlation between the TSC gene mutation and renal angiomyolipoma phenotype is poorly understood. This study aims to analyze the mutation sites in 261 types of selected TSC patients. The results reveal that: (1) female patients develop more renal angiomyolipoma than male patients [
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Registered trials
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