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The microbiota–gut–brain axis and neurodevelopmental disorders
The gut microbiota has been found to interact with the brain through the microbiota–gut–
brain axis, regulating various physiological processes. In recent years, the impacts of the gut …
brain axis, regulating various physiological processes. In recent years, the impacts of the gut …
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …
and their biological parents. We classified 37 of 327 (11.3%) children as having …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
Single-cell genomics meets human genetics
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
Focusing on mitochondria in the brain: from biology to therapeutics
N Song, S Mei, X Wang, G Hu, M Lu - Translational neurodegeneration, 2024 - Springer
Mitochondria have multiple functions such as supplying energy, regulating the redox status,
and producing proteins encoded by an independent genome. They are closely related to the …
and producing proteins encoded by an independent genome. They are closely related to the …
A full semantic toolbox is essential for autism research and practice to thrive
A Singer, A Lutz, J Escher, A Halladay - Autism Research, 2023 - Wiley Online Library
Individuals diagnosed with autism spectrum disorder (ASD) present with a highly diverse set
of challenges, disabilities, impairments and strengths. Recently, it has been suggested that …
of challenges, disabilities, impairments and strengths. Recently, it has been suggested that …
CTNNB1 in neurodevelopmental disorders
CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …
A genetic bridge between medicine and neurodiversity for autism
CS Leblond, T Rolland, E Barthome… - Annual Review of …, 2024 - annualreviews.org
Autism represents a large spectrum of diverse individuals with varying underlying genetic
architectures and needs. For some individuals, a single de novo or ultrarare genetic variant …
architectures and needs. For some individuals, a single de novo or ultrarare genetic variant …
[HTML][HTML] Synergistic hyperactivation of both mTORC1 and mTORC2 underlies the neural abnormalities of PTEN-deficient human neurons and cortical organoids
NK Dhaliwal, OY Weng, X Dong, A Bhattacharya… - Cell Reports, 2024 - cell.com
Mutations in the phosphatase and tensin homolog (PTEN) gene are associated with severe
neurodevelopmental disorders. Loss of PTEN leads to hyperactivation of the mechanistic …
neurodevelopmental disorders. Loss of PTEN leads to hyperactivation of the mechanistic …