High-fat diet impairs mouse cognition through altered RNA splicing
A mouse study links high-fat feeding to reduced PQBP1, altered synaptic-gene RNA splicing, and impaired cognition while showing that restoring ...
Tag: RNA splicing
Small donor study links altered SLC14A1 transcripts with weak Jka antigen presentation
A study of 18 Chinese blood donors associated alternative SLC14A1 transcript structures and higher rates of transcript-level indels with weak ...
Single case links deep intronic MFSD8 variant to CLN7 disease
A single-patient study showed that a deep intronic MFSD8 variant causes CLN7 disease by triggering abnormal pseudoexon inclusion that disrupts ...
HNRNPH2-R114W remodels RNA splicing and neurodevelopmental gene programs in isogenic cerebral organoids
A single letter change in a protein that shepherds RNA through the splicing machinery may be enough to rewire thousands ...
Scientists Reverse Aging in Cells and Mice With a Single Gene
Harvard-led researchers developed a transcriptomic aging clock to screen rejuvenation genes and found that over-expressing the RNA splicing factor SRSF1 ...
Tiny genetic switches: how microexons quietly rewire where proteins live in our cells
A new study shows that alternative splicing, especially through microexons shorter than five amino acids, fine-tunes protein interaction interfaces to ...
Hidden poison exons in the human brain reveal a new route into neurological disease
A genome-wide study identifies 9,814 poison exons in the human genome and shows that hundreds are brain-specific, linking their mis-splicing ...
From Sodium Blockers to Gene Silencing: The Treatment Revolution in Myotonic Disorders
A new review in the Journal of Neurology charts the rapid evolution of treatments for myotonic disorders, from established sodium ...
Silent No More: Hidden PROS1 Mutations Drive Dangerous Blood Clotting Disorder
A new study shows that synonymous PROS1 variants once considered harmless can cause Protein S deficiency through aberrant splicing and ...
Fungal Killer’s Achilles Heel Found in RNA Splicing Machinery
A conserved Lsm8-exosome module that safeguards RNA splicing fidelity has been revealed as a master switch controlling growth, stress adaptation, ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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