Results 131 to 140 of about 1,384,640 (333)

Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis [PDF]

open access: hybrid, 2021
Paola Nix   +7 more
openalex   +1 more source

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

open access: yesAdvanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen   +31 more
wiley   +1 more source

Lamin B1 regulates RNA splicing factor expression by modulating the spatial positioning and chromatin interactions of the ETS1 gene locus

open access: yesAnimal Cells and Systems
Lamin B1, a crucial component of the nuclear lamina, plays a pivotal role in chromatin organization and transcriptional regulation in eukaryotic cells. While recent studies have highlighted the connection between Lamin B1 and RNA splicing regulation, the
Geun-Seup Shin   +9 more
doaj   +1 more source

Splice site m6A methylation prevents binding of U2AF35 to inhibit RNA splicing

open access: yesCell, 2021
M. Mendel   +8 more
semanticscholar   +1 more source

CircSMEK1 Suppresses HCC via the hnRNPK‐IGF2‐AKT Axis: A Diagnostic Biomarker and Therapeutic Target

open access: yesAdvanced Science, EarlyView.
CircSMEK1 is downregulated in MASH/HCC and predicts poor prognosis. It suppresses tumor progression by promoting hnRNPK ubiquitination and inhibiting the IGF2/PI3K/AKT axis, while its loss activates immunosuppressive cancer‐associated fibroblasts. Serum circSMEK1 serves as a non‐invasive diagnostic biomarker, and its restoration potently inhibits HCC ...
Peilan Guo   +15 more
wiley   +1 more source

Mechanisms of alternative pre-messenger RNA splicing.

open access: yesAnnual Review of Biochemistry, 2003
D. Black
semanticscholar   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

open access: yesAdvanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer   +18 more
wiley   +1 more source

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