RNA splicing in human disease and in the clinic

D Baralle, E Buratti - Clinical science, 2017 - portlandpress.com
Defects at the level of the pre-mRNA splicing process represent a major cause of human
disease. Approximately 15–50% of all human disease mutations have been shown to alter …

Function, clinical application, and strategies of Pre-mRNA splicing in cancer

C Di, Syafrizayanti, Q Zhang, Y Chen, Y Wang… - Cell Death & …, 2019 - nature.com
Pre-mRNA splicing is a fundamental process that plays a considerable role in generating
protein diversity. Pre-mRNA splicing is also the key to the pathology of numerous diseases …

A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell lines

Y Chen, NM Davidson, YK Wan, H Patel, F Yao… - BioRxiv, 2021 - biorxiv.org
The human genome contains more than 200,000 gene isoforms. However, different isoforms
can be highly similar, and with an average length of 1.5 kb remain difficult to study with short …

A Simple and Universal System for Gene Manipulation in Aspergillus fumigatus: In Vitro-Assembled Cas9-Guide RNA Ribonucleoproteins Coupled with …

Q Al Abdallah, W Ge, JR Fortwendel - Msphere, 2017 - Am Soc Microbiol
ABSTRACT CRISPR (clustered regularly interspaced short palindromic repeat)-Cas9 is a
novel genome-editing system that has been successfully established in Aspergillus …

RNA sequencing and transcriptome arrays analyses show opposing results for alternative splicing in patient derived samples

PV Nazarov, A Muller, T Kaoma, N Nicot, C Maximo… - BMC genomics, 2017 - Springer
Background RNA sequencing (RNA-seq) and microarrays are two transcriptomics
techniques aimed at the quantification of transcribed genes and their isoforms. Here we …

Impact of RNA-seq data analysis algorithms on gene expression estimation and downstream prediction

L Tong, PY Wu, JH Phan, HR Hassazadeh, W Tong… - Scientific reports, 2020 - nature.com
To use next-generation sequencing technology such as RNA-seq for medical and health
applications, choosing proper analysis methods for biomarker identification remains a …

The transcription factor Nfatc2 regulates β-cell proliferation and genes associated with type 2 diabetes in mouse and human islets

MP Keller, PK Paul, ME Rabaglia, DS Stapleton… - PLoS …, 2016 - journals.plos.org
Human genome-wide association studies (GWAS) have shown that genetic variation at>
130 gene loci is associated with type 2 diabetes (T2D). We asked if the expression of the …

Quantification of gene expression while taking into account RNA alternative splicing

M Zhang, YH Liu, CS Chang, H Zhi, S Wang, W Xu… - Genomics, 2019 - Elsevier
Gene expression has been widely used in functional genomics research; however, the gene
expressions quantified with different methods have been frequently inconsistent, thus …

[PDF][PDF] Introduction to differential gene expression analysis using RNA-seq

F Dündar, L Skrabanek, P Zumbo - Appl. Bioinformatics, 2015 - researchgate.net
Command-line interface The first steps of the analyses–that are the most computationally
demanding–will be performed directly on our servers. The interaction with our servers is …

Transcriptome analysis of grapevine under salinity and identification of key genes responsible for salt tolerance

P Das, AL Majumder - Functional & integrative genomics, 2019 - Springer
The negative effects of soil salinity towards grape yield depend upon salt concentration,
cultivar type, developmental stage, and rootstock. Thompson Seedless variety of grape plant …