ArticleOncoTargets and therapy2018
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
Article in OncoTargets and therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 6 citations in OpenAlex.
- Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a RareBalkan journal of medical genetics : BJMG · 2021Article
- Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.Frontiers in neurology · 2021Review
- Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.Cancers · 2020Article
- Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.Clinical and translational medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNeurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the PATIENTS AND
methodsOne proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively. Enhanced Computed tomography (CT) and Positron emission tomography-CT (PET-CT) were taken to collect the radiographic data, and the specimens of this neurofibroma as well as the blood samples from the father and son were sent for panel mutation screening of 295 tumor-related genes based on next-generation screening. Furthermore, the NF1 gene mutations were referred with
resultsThe radiography indicated that the benign plexiform neurofibroma only occurred in the son. Also,
conclusionThis study reexamined the background germline mutations and suggested their potential value as modifier genes that may influence the phenotype heterogenity.
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Registered trials
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