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Microtubules: From understanding their dynamics to using them as potential therapeutic targets
Microtubules (MT) and actin microfilaments are dynamic cytoskeleton components involved
in a range of intracellular processes. MTs play a role in cell division, beating of cilia and …
in a range of intracellular processes. MTs play a role in cell division, beating of cilia and …
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …
Disruption of POGZ is associated with intellectual disability and autism spectrum disorders
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically
heterogeneous, and a significant number of genes have been associated with both …
heterogeneous, and a significant number of genes have been associated with both …
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …
[HTML][HTML] Neuronal cytoskeleton in intellectual disability: from systems biology and modeling to therapeutic opportunities
Intellectual disability (ID) is a pathological condition characterized by limited intellectual
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …
De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to
unwind RNA secondary structures. Here we identified six different de novo missense …
unwind RNA secondary structures. Here we identified six different de novo missense …
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying …
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying …
CHAMP1 binds to REV7/FANCV and promotes homologous recombination repair
A critical determinant of DNA repair pathway choice is REV7, an adaptor that binds to
various DNA repair proteins through its C-terminal seatbelt domain. The REV7 seatbelt …
various DNA repair proteins through its C-terminal seatbelt domain. The REV7 seatbelt …
Plk1 bound to Bub1 contributes to spindle assembly checkpoint activity during mitosis
For faithful chromosome segregation, the formation of stable kinetochore–microtubule
attachment and its monitoring by the spindle assembly checkpoint (SAC) are coordinately …
attachment and its monitoring by the spindle assembly checkpoint (SAC) are coordinately …