Exon Skipping

Exon skipping is a method of RNA splicing used when a mutation occurs in the genes of exons. It is regulated largely by the use of antisense oligonucleotides that mask the mutated gene and allow the cellular machinery to skip over it. Exon skipping is being investigated as a therapeutic option for some diseases. Here is the latest research on exon skipping.

May 29, 2020
Open Access

Transcript expression-aware annotation improves rare variant interpretation

Nature
Beryl B CummingsDaniel G MacArthur
May 15, 2020

Rational Design of an Activatable Reporter for Quantitative Imaging of RNA Aberrant Splicing In Vivo

Molecular Therapy. Methods & Clinical Development
Jinrong XieFu Wang
May 27, 2020
Open Access

AMP-activated protein kinase regulates alternative pre-mRNA splicing by phosphorylation of SRSF1

The Biochemical Journal
Eri MatsumotoTsukasa Suzuki
May 21, 2020
Open Access

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Annals of Clinical and Translational Neurology
Abdulaziz AsiriMajid Alfadhel
May 16, 2020
Open Access

Mutation severity spectrum of rare alleles in the human genome is predictive of disease type

PLoS Computational Biology
Jimin PeiNick V Grishin
May 22, 2020

Association of mutation and low expression of the CTCF gene with breast cancer progression

Saudi Pharmaceutical Journal : SPJ : the Official Publication of the Saudi Pharmaceutical Society
Md Salman AkhtarSyed Akhtar Husain
May 23, 2020
Open Access

Mitochondrial DNA mutations in Malaysian female breast cancer patients

PloS One
Raevathi OmasanggarSandra Maniam
May 22, 2020
Case ReportOpen Access

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor

Frontiers in Endocrinology
Daniel I IlievGerhard Binder
May 24, 2020

Posttranslational regulation of the exon skipping machinery controls aberrant splicing in leukemia

Cancer Discovery
Yalu ZhouPanagiotis Ntziachristos

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