Results 261 to 270 of about 717,864 (344)

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

A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans. [PDF]

open access: yesBMC Biol
Liu X   +16 more
europepmc   +1 more source

Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review

open access: gold
Zahra Alsahlawi   +6 more
openalex   +1 more source

TSHR‐Targeting Nucleic Acid Aptamer Treats Graves' Ophthalmopathy via Novel Allosteric Inhibition

open access: yesAdvanced Science, EarlyView.
This study presents YC3, a novel inhibitory TSHR‐targeting aptamer, as a promising therapeutic for Graves' ophthalmopathy (GO). YC3 suppresses pathological phenotypes in human orbital fibroblasts and improves outcomes in GO mice by binding to a previously unidentified allosteric site on TSHR, demonstrating the potential of aptamers in advancing ...
Yanchen Zhang   +16 more
wiley   +1 more source

Gene Editing of a Susceptibility LncRNA Enhances Broad‐Spectrum Disease Resistance in Rice without Developmental Trade‐Offs

open access: yesAdvanced Science, EarlyView.
Editing susceptibility lncRNAs offers a strategy to enhance disease resistance without yield loss. RESIS, a domestication‐acquired, pathogen‐induced lncRNA, promotes protein N‐terminal acetylation through its interaction with NatA complex. Knockout of RESIS increases translation and confers broad‐spectrum resistance to both fungal and bacterial ...
Wen‐long Zhao   +17 more
wiley   +1 more source

Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs

open access: gold
Yinping Tian   +20 more
openalex   +1 more source

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