1. How to submit my research paper? What’s the process of publication of my paper?
The journal receives submitted manuscripts via email only. Please submit your research paper in .doc or.pdf format to the submission email: ijpmbs@ejournal.net.
You’ll be given a paper number if your submission is successful. Your paper then will undergo peer review process, which may take approximately one and a half months under normal circumstances, three tops.
After blind peer review, you will receive the notification letter with the review result of your paper...
2. Can I submit an abstract?
The journal publishes full research papers.[Read More]
IJPMBS 2023 Vol.12(4): 54-60
doi: 10.18178/ijpmbs.12.4.54-60

Study on FSHD2 Myotube Nucleus Disease Based on Mononuclear RNA-seq Identification

Zihan Liao1,* and Virgia Wang2
1. KCS Chengdu Dipont, Sichuan, China
2. Shanghai Jiao Tong University, Shanghai, China
*Correspondence: 2924337170@qq.com (Z.L.)

Manuscript received October 18, 2022; revised December 13, 2022; accepted August 14, 2023.

Abstract—Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disease that leads to progressively wasting of facial, shoulder, and upper arm musculature. We performed a PCA analysis on the bulk RNA-seq datasets to observe the variances in gene expression profiles that could distinguish the impacts of genotypes and myoblast differentiation. We found out that the variance of differentiation (51.9%) was much higher than the percentage of variance of genotype difference (5.9%). Corresponding to this, we also found that only a small portion of differentially expressed genes were driven by the FSHD effect only, and the vast rest were driven by differentiation effect. These results further confirmed the difficulties in detecting FSHD induced or DUX4 downstream genes from bulk RNA-seq datasets and highlighted our downstream analysis by using a single-nucleus RNA-seq dataset to dissect the pathology in disease-associated populations.
Keywords—Facioscapulohumeral Muscular Dystrophy (FSHD), DUX4, single-nuclei RNA-seq

Cite: Zihan Liao and Virgia Wang, "Study on FSHD2 Myotube Nucleus Disease Based on Mononuclear RNA-seq Identification," International Journal of Pharma Medicine and Biological Sciences, Vol. 12, No. 4, pp. 54-60, October 2023. doi: 10.18178/ijpmbs.12.4.54-60

Copyright © 2023 by the authors. This is an open access article distributed under the Creative Commons Attribution License (CC BY-NC-ND 4.0), which permits use, distribution and reproduction in any medium, provided that the article is properly cited, the use is non-commercial and no modifications or adaptations are made.
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