Results 81 to 90 of about 15,501 (191)
Background Synapsins are abundant synaptic vesicle associated phosphoproteins that are involved in the fine regulation of neurotransmitter release.
Buchner Erich +5 more
doaj +1 more source
Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. [PDF]
Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar ...
Sabina Barresi +7 more
doaj +1 more source
Multi‐Tissue Genetic Regulation of RNA Editing in Pigs
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan +21 more
wiley +1 more source
Current epigenetic aspects the clinical kidney researcher should embrace [PDF]
Chronic kidney disease (CKD), affecting 10-12% of the world's adult population, is associated with a considerably elevated risk of serious comorbidities, in particular, premature vascular disease and death.
Ekström, Tomas J. +5 more
core +1 more source
Programming Next‐Generation Synthetic Biosensors by Genetic Circuit Design
Synthetic biology enables genetic circuit‐based biosensing to detect diverse targets, process signals, and transduce them into readable outputs or intracellular regulatory activities. However, field deployment and real‐world application of such synthetic biosensors face considerable challenges in sensitivity, specificity, speed, stability, and ...
Yuanli Gao +4 more
wiley +1 more source
Fine particulate matter (PM2.5) is one of the most important components of environmental pollutants, and is associated with pulmonary injury. However, the biological mechanisms of pulmonary damage caused by PM2.5 are poorly defined, especially the ...
Meizhen Li +12 more
doaj +1 more source
Solution structure of the N-terminal dsRBD of Drosophila ADAR and interaction studies with RNA [PDF]
Adenosine deaminases that act on RNA (ADAR) catalyze adenosine to inosine (A-to-I) editing in double-stranded RNA (dsRNA) substrates. Inosine is read as guanosine by the translation machinery; therefore A-to-I editing events in coding sequences may ...
Barraud +59 more
core +4 more sources
Depicts the pathways and mechanisms of the drug. Abstract Objectives Aicardi–Goutières syndrome (AGS) is a rare genetic interferonopathy because of aberrant DNA or RNA metabolism that lacks effective disease modifying therapies. Methods Single‐cell RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs) obtained from a patient with ...
Velda X Han +12 more
wiley +1 more source
Transcriptome-wide identification of A > I RNA editing sites by inosine specific cleavage [PDF]
Adenosine to inosine (A > I) RNA editing, which is catalyzed by the ADAR family of proteins, is one of the fundamental mechanisms by which transcriptomic diversity is generated.
Cattenoz, Pierre B. +3 more
core +2 more sources
RNA‐Based Therapies for Inherited Metabolic Disorders
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source

