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Article
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain
Debate remains around the anatomical origins of specific brain cell subtypes and lineage relationships within the human forebrain1–7. Thus, direct observation in the mature human brain is critical for a complete ...
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Article
Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy
Brain somatic mosaicism is linked to several neurological disorders and is thought to arise post-zygotically. A study suggests that pre-zygotic aneuploidy followed by post-zygotic partial reversion leads to a ...
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Article
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs ...
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Article
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosa...
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Article
Somatic mosaicism reveals clonal distributions of neocortical development
The structure of the human neocortex underlies species-specific traits and reflects intricate developmental programs. Here we sought to reconstruct processes that occur during early development by sampling adu...
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Article
Open AccessExcitatory synapses and gap junctions cooperate to improve Pv neuronal burst firing and cortical social cognition in Shank2-mutant mice
NMDA receptor (NMDAR) and GABA neuronal dysfunctions are observed in animal models of autism spectrum disorders, but how these dysfunctions impair social cognition and behavior remains unclear. We report here ...
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Article
Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice
Autism spectrum disorders (ASDs) are four times more common in males than in females, but the underlying mechanisms are poorly understood. We characterized sexually dimorphic changes in mice carrying a heteroz...
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Article
Open AccessTrans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation
Genetic aspects of autism spectrum disorders (ASDs) have recently been extensively explored, but environmental influences that affect ASDs have received considerably less attention. Zinc (Zn) is a nutritional ...
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Article
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Mutations in SHANK2 have been associated with autism spectrum disorders in humans; here, Shank2 mutant mice are shown to exhibit autistic-like behaviours that can be improved by restoring decreased NMDA receptor ...