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The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing

Overview of attention for article published in OncoTargets and therapy, February 2018
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  • Good Attention Score compared to outputs of the same age and source (66th percentile)

Mentioned by

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4 tweeters

Citations

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2 Dimensions

Readers on

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15 Mendeley
Title
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing
Published in
OncoTargets and therapy, February 2018
DOI 10.2147/ott.s156998
Pubmed ID
Authors

Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen

Abstract

Neurofibromatosis 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 theNF1gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. One 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 withCanis lupus familiaris,Rattus norvegicus,Gallus gallus,Danio rerio, andDrosophila melanogasterNF1 sequencing for evolutionary conservativeness and then analyzed in Condel databases for pathogenicity prediction. The radiography indicated that the benign plexiform neurofibroma only occurred in the son. Also,TP53,FANCA,BCL6,PIK3C2G,RNF43,FGFR4,FLT3,ERBB2,PAK7,NSD1,MEN1andTSC1were uniquely found mutated in the son, which could be candidates as new modifier genes; besides,RNF43was also mutated in public neurofibroma seuquencing data. By KEGG pathway annotation, phosphoinositide-3-kinase-Akt pathway was altered in both the public plexiform neurofibroma sample and in our proband patient. This study reexamined the background germline mutations and suggested their potential value as modifier genes that may influence the phenotype heterogenity.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 20%
Student > Master 2 13%
Professor 1 7%
Student > Bachelor 1 7%
Student > Doctoral Student 1 7%
Other 2 13%
Unknown 5 33%
Readers by discipline Count As %
Agricultural and Biological Sciences 4 27%
Biochemistry, Genetics and Molecular Biology 3 20%
Unspecified 1 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 7%
Medicine and Dentistry 1 7%
Other 1 7%
Unknown 4 27%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 March 2018.
All research outputs
#8,309,010
of 13,789,144 outputs
Outputs from OncoTargets and therapy
#463
of 1,913 outputs
Outputs of similar age
#151,199
of 271,810 outputs
Outputs of similar age from OncoTargets and therapy
#12
of 48 outputs
Altmetric has tracked 13,789,144 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,913 research outputs from this source. They receive a mean Attention Score of 2.2. This one has gotten more attention than average, scoring higher than 70% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 271,810 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 48 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.