Neurogenetics of Alternative Splicing

Alternative splicing is a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Dysregulation of alternative splicing can lead to developmental defects and can play a role in some neurological disorders. Here is that latest research.

February 20, 2021

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.

Clinical Genetics
Carmela FuscoMarco Castori
February 7, 2021
Open Access

Circular RNAs as Novel Regulators of β-Cell Functions under Physiological and Pathological Conditions.

International Journal of Molecular Sciences
Flora Brozzi, Romano Regazzi
February 6, 2021
Open Access

NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System

BioRxiv : the Preprint Server for Biology
Kyle W. DavisM. Serrano
January 29, 2021

The conserved alternative splicing factor caper regulates neuromuscular phenotypes during development and aging.

Developmental Biology
M Brandon TitusEugenia C Olesnicky
January 19, 2021

Targeting RNA with small molecules: from fundamental principles towards the clinic.

Chemical Society Reviews
James P FaleseAmanda E Hargrove
January 12, 2021
Open Access

Spinal Muscular Atrophy: In the Challenge Lies a Solution

Trends in Neurosciences
Brunhilde Wirth
January 3, 2021

Hypoxia-induced alternative splicing in human diseases: the pledge, the turn, and the prestige

Cellular and Molecular Life Sciences : CMLS
Subhashis NatuaSanjeev Shukla
December 31, 2020
Open Access

Automated Isoform Diversity Detector (AIDD): a pipeline for investigating transcriptome diversity of RNA-seq data

BMC Bioinformatics
Noel-Marie PlonskiHelen Piontkivska
December 18, 2020
Open Access

ROP18-Mediated Transcriptional Reprogramming of HEK293T Cell Reveals New Roles of ROP18 in the Interplay Between Toxoplasma gondii and the Host Cell

Frontiers in Cellular and Infection Microbiology
Jie-Xi LiXing-Quan Zhu
December 11, 2020
Open Access

Staying true to yourself: mechanisms of DNA methylation maintenance in mammals

Nucleic Acids Research
Nataliya PetrykPierre-Antoine Defossez
November 27, 2020
Open Access

Multiple functions of TBCK protein in neurodevelopment disorders and tumors

Oncology Letters
Jin Wu, Guanting Lu
November 6, 2020

Epitranscriptomic regulation of transcriptome plasticity in development and diseases of the brain

BMB Reports
Chan-Woo ParkKi-Jun Yoon
October 31, 2020
Open Access

P2X7 Receptor Upregulation in Huntington's Disease Brains

Frontiers in Molecular Neuroscience
Ivana OllàJosé J Lucas
October 21, 2020

RNA processing in neurological tissue: development, aging and disease

Seminars in Cell & Developmental Biology
Ryan A SzetoCleber A Trujillo
October 15, 2020
Open Access

Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the cerebral cortex

BioRxiv : the Preprint Server for Biology
A. R. JeffriesJonathan Mill
October 14, 2020

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Human Genetics
Ashfaque AhmedZhengmao Hu

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