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Map** the molecular and cellular complexity of cortical malformations
INTRODUCTION The cerebral cortex, or neocortex, is critical to key mammalian skills such
as language, sociability, and sensorimotor control. This structure consists of dozens of …
as language, sociability, and sensorimotor control. This structure consists of dozens of …
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due
to inadequate restraint of overactivated immune cells and is associated with a variable …
to inadequate restraint of overactivated immune cells and is associated with a variable …
Neuronal migration and disorders–an update
F Francis, S Cappello - Current Opinion in Neurobiology, 2021 - Elsevier
This review highlights genes, proteins and subcellular mechanisms, recently shown to
influence cortical neuronal migration. A current view on mechanisms which become …
influence cortical neuronal migration. A current view on mechanisms which become …
Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome
CK Bauer, P Calligari, FC Radio, V Caputo… - The American Journal of …, 2018 - cell.com
Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of
cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine …
cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine …
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small
family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for …
family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for …
Infant mortality: the contribution of genetic disorders
MH Wojcik, TS Schwartz, KE Thiele, H Paterson… - Journal of …, 2019 - nature.com
Objective To determine the proportion of infant deaths occurring in the setting of a confirmed
genetic disorder. Study design A retrospective analysis of the electronic medical records of …
genetic disorder. Study design A retrospective analysis of the electronic medical records of …
“Ears of the lynx” MRI sign is associated with SPG11 and SPG15 hereditary spastic paraplegia
B Pascual, ST De Bot, MR Daniels, MC França… - American Journal of …, 2019 - ajnr.org
BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging
E Flex, S Martinelli, A Van Dijck, A Ciolfi… - The American Journal of …, 2019 - cell.com
Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is
precisely controlled to guarantee efficient compaction of the genome and proper …
precisely controlled to guarantee efficient compaction of the genome and proper …
Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
P Magini, DJ Smits, L Vandervore, R Schot… - The American Journal of …, 2019 - cell.com
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of
molecules important for cell motility, and implicated in cancer progression. Here we …
molecules important for cell motility, and implicated in cancer progression. Here we …