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[HTML][HTML] Formation, function, and pathology of RNP granules
Ribonucleoprotein (RNP) granules are diverse membrane-less organelles that form through
multivalent RNA-RNA, RNA-protein, and protein-protein interactions between RNPs. RNP …
multivalent RNA-RNA, RNA-protein, and protein-protein interactions between RNPs. RNP …
Cellular functions of eukaryotic RNA helicases and their links to human diseases
RNA helicases are highly conserved proteins that use nucleoside triphosphates to bind or
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …
Mechanisms and regulation of RNA condensation in RNP granule formation
Ribonucleoprotein (RNP) granules are RNA–protein assemblies that are involved in
multiple aspects of RNA metabolism and are linked to memory, development, and disease …
multiple aspects of RNA metabolism and are linked to memory, development, and disease …
DDX6 modulates P-body and stress granule assembly, composition, and docking
N Ripin, L Macedo de Vasconcelos, DA Ugay… - Journal of Cell …, 2024 - rupress.org
Stress granules and P-bodies are ribonucleoprotein (RNP) granules that accumulate during
the stress response due to the condensation of untranslating mRNPs. Stress granules form …
the stress response due to the condensation of untranslating mRNPs. Stress granules form …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
ALS/FTD-associated C9ORF72 repeat RNA promotes phase transitions in vitro and in cells
Membraneless RNA granules originate via phase separation events driven by multivalent
interactions. As RNA is the defining component of such granules, we examined how RNA …
interactions. As RNA is the defining component of such granules, we examined how RNA …
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of
unexplained intellectual disability (ID) cases in females and are associated with autism …
unexplained intellectual disability (ID) cases in females and are associated with autism …
[HTML][HTML] An in vitro system to silence mitochondrial gene expression
The human mitochondrial genome encodes thirteen core subunits of the oxidative
phosphorylation system, and defects in mitochondrial gene expression lead to severe …
phosphorylation system, and defects in mitochondrial gene expression lead to severe …
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
D Lessel, C Gehbauer, NC Bramswig… - Brain, 2018 - academic.oup.com
The transcription factor BCL11B is essential for development of the nervous and the immune
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …
Human mitoribosome biogenesis and its emerging links to disease
MIG Lopez Sanchez, A Krüger, DI Shiriaev… - International journal of …, 2021 - mdpi.com
Mammalian mitochondrial ribosomes (mitoribosomes) synthesize a small subset of proteins,
which are essential components of the oxidative phosphorylation machinery. Therefore, their …
which are essential components of the oxidative phosphorylation machinery. Therefore, their …