Results 191 to 200 of about 77,159 (253)

Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Maternal effects, encompassing both genetic (maternally expressed gene products) and non‐genetic (maternal state) influences, are powerful determinants of offspring phenotype, yet their RNA‐level mechanisms remain incompletely resolved. In parallel, epitranscriptomics, an emerging field centered on chemical modifications to RNA, has revealed ...
Ehsan Pashay Ahi
wiley   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

RNA polymerases reshape chromatin architecture and couple transcription on individual fibers. [PDF]

open access: yesMol Cell
Tullius TW   +5 more
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini   +13 more
wiley   +1 more source

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka   +4 more
wiley   +1 more source

Fasting shapes chromatin architecture through an mTOR/RNA Pol I axis. [PDF]

open access: yesNat Cell Biol
Al-Refaie N   +12 more
europepmc   +1 more source

Haplotype-resolved 3D chromatin architecture of the hybrid pig. [PDF]

open access: yesGenome Res
Lin Y   +36 more
europepmc   +1 more source

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