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Helicases in R-loop formation and resolution
S Yang, L Winstone, S Mondal, Y Wu - Journal of Biological Chemistry, 2023 - jbc.org
With the development and wide usage of CRISPR technology, the presence of R-loop
structures, which consist of an RNA: DNA hybrid and a displaced single strand (ss) DNA …
structures, which consist of an RNA: DNA hybrid and a displaced single strand (ss) DNA …
DDX3X syndrome: From clinical phenotypes to biological insights
A von Mueffling, M Garcia‐Forn… - Journal of …, 2024 - Wiley Online Library
DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of
intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X …
intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X …
DHX9 SUMOylation is required for the suppression of R-loop-associated genome instability
BZ Yang, MY Liu, KL Chiu, YL Chien, CA Cheng… - Nature …, 2024 - nature.com
RNA helicase DHX9 is essential for genome stability by resolving aberrant R-loops.
However, its regulatory mechanisms remain unclear. Here we show that SUMOylation at …
However, its regulatory mechanisms remain unclear. Here we show that SUMOylation at …
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
DG Calame, JH Wong, P Panda, DT Nguyen… - Genetics in …, 2025 - Elsevier
Purpose FLVCR1 encodes a solute carrier protein implicated in heme, choline, and
ethanolamine transport. Although Flvcr1−/− mice exhibit skeletal malformations and …
ethanolamine transport. Although Flvcr1−/− mice exhibit skeletal malformations and …
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Epigenetic dysregulation has emerged as an important etiological mechanism of
neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can …
neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can …
[HTML][HTML] Functional genomics and small molecules in mitochondrial neurodevelopmental disorders
DG Calame, LT Emrick - Neurotherapeutics, 2024 - Elsevier
Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …
DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders
C Fiorenzani, A Mossa, S De Rubeis - Trends in Genetics, 2025 - cell.com
The DEAD/DEAH-box family of RNA helicases (RHs) is among the most abundant and
conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their …
conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their …
The role of DEAD-and DExH-box RNA helicases in neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) represent a large group of disorders with an onset in
the neonatal or early childhood period; NDDs include intellectual disability (ID), autism …
the neonatal or early childhood period; NDDs include intellectual disability (ID), autism …
The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options
N Specchio, V Di Micco, E Aronica, S Auvin… - …, 2025 - Wiley Online Library
Epilepsy and autism often co‐occur in genetic developmental and epileptic
encephalopathies (DEEs), but their underlying neurobiological processes remain poorly …
encephalopathies (DEEs), but their underlying neurobiological processes remain poorly …
Complete Genomic Assembly of Mauritian Cynomolgus Macaque Killer Ig-like Receptor and Natural Killer Group 2 Haplotypes
Mauritian-origin cynomolgus macaques (MCMs) serve as a powerful nonhuman primate
model in biomedical research due to their unique genetic homogeneity, which simplifies …
model in biomedical research due to their unique genetic homogeneity, which simplifies …