Transcriptome profiling in human diseases: new advances and perspectives

A Casamassimi, A Federico, M Rienzo… - International journal of …, 2017 - mdpi.com
In the last decades, transcriptome profiling has been one of the most utilized approaches to
investigate human diseases at the molecular level. Through expression studies, many …

Alternative splicing, RNA-seq and drug discovery

S Zhao - Drug discovery today, 2019 - Elsevier
Highlights•RNA-seq is emerging as a powerful technology to study alternative splicing.•RNA
mis-splicing can cause cancers and a variety of other human diseases.•To target alternative …

Non-canonical functions of spliceosome components in cancer progression

OM Ivanova, KS Anufrieva, AN Kazakova… - Cell Death & …, 2023 - nature.com
Dysregulation of pre-mRNA splicing is a common hallmark of cancer cells and it is
associated with altered expression, localization, and mutations of the components of the …

Oligonucleotide therapeutics in neurodegenerative diseases

DR Scoles, SM Pulst - RNA biology, 2018 - Taylor & Francis
Therapeutics that directly target RNAs are promising for a broad spectrum of disorders,
including the neurodegenerative diseases. This is exemplified by the FDA approval of …

[HTML][HTML] Contributions of alternative splicing to muscle type development and function

E Nikonova, SY Kao, ML Spletter - Seminars in cell & developmental …, 2020 - Elsevier
Animals possess a wide variety of muscle types that support different kinds of movements.
Different muscles have distinct locations, morphologies and contractile properties, raising …

RNA therapeutics: how far have we gone?

MF Coutinho, L Matos, JI Santos, S Alves - The mRNA Metabolism in …, 2019 - Springer
In recent years, the RNA molecule became one of the most promising targets for therapeutic
intervention. Currently, a large number of RNA-based therapeutics are being investigated …

ANRIL overexpression globally induces expression and alternative splicing of genes involved in inflammation in HUVECs

A Wufuer, X Luohemanjiang, L Du… - Molecular …, 2022 - spandidos-publications.com
Long non-coding (lnc) RNAs serve important cellular functions and certain lncRNAs have
roles in different mechanisms of gene regulation. lncRNA-antisense non-coding RNA in the …

[HTML][HTML] Role of global aberrant alternative splicing events in papillary thyroid cancer prognosis

P Lin, R He, Z Huang, R Zhang, H Wu, L Shi… - Aging (Albany …, 2019 - ncbi.nlm.nih.gov
Background: Alternative splicing events have been increasingly reported for anomalous
perturbations in various cancers, including papillary thyroid cancer (PTC). Methods …

X-linked dystonia-parkinsonism: recent advances

DC Bragg, N Sharma, LJ Ozelius - Current opinion in neurology, 2019 - journals.lww.com
The discovery that XDP is linked to a polymorphic hexameric sequence suggests that it
could share mechanisms with other DNA repeat disorders, whereas the transcriptional …

Mutations of pre-mRNA splicing regulatory elements: are predictions moving forward to clinical diagnostics?

L Grodecká, E Buratti, T Freiberger - International journal of molecular …, 2017 - mdpi.com
For more than three decades, researchers have known that consensus splice sites alone are
not sufficient regulatory elements to provide complex splicing regulation. Other regulators …