Human brain organogenesis: Toward a cellular understanding of development and disease
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications
The prefrontal cortex (PFC) serves as the chief executive officer of the brain, controlling the
highest level cognitive and emotional processes. Its local circuits among glutamatergic …
highest level cognitive and emotional processes. Its local circuits among glutamatergic …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
Assembloid CRISPR screens reveal impact of disease genes in human neurodevelopment
The assembly of cortical circuits involves the generation and migration of interneurons from
the ventral to the dorsal forebrain,–, which has been challenging to study at inaccessible …
the ventral to the dorsal forebrain,–, which has been challenging to study at inaccessible …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Modelling the neurodevelopmental pathogenesis in neuropsychiatric disorders. Bioactive kynurenines and their analogues as neuroprotective agents—in celebration …
M Tanaka, E Spekker, Á Szabó, H Polyák… - Journal of Neural …, 2022 - Springer
Following introduction of the monoamine oxidase type B inhibitor selegiline for the treatment
of Parkinson's disease (PD), discovery of the action mechanism of Alzheimer's disease …
of Parkinson's disease (PD), discovery of the action mechanism of Alzheimer's disease …
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
The role of GABAergic signalling in neurodevelopmental disorders
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …
exciting new discoveries provides compelling evidence that disruptions in a number of key …