Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
[HTML][HTML] Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental …
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …
between genetic and environmental factors. On the one hand, hundreds of genes …
Spatial and cell type transcriptional landscape of human cerebellar development
KA Aldinger, Z Thomson, IG Phelps, P Haldipur… - Nature …, 2021 - nature.com
The human neonatal cerebellum is one-fourth of its adult size yet contains the blueprint
required to integrate environmental cues with developing motor, cognitive and emotional …
required to integrate environmental cues with developing motor, cognitive and emotional …
[HTML][HTML] CRISPR interference-based platform for multimodal genetic screens in human iPSC-derived neurons
CRISPR/Cas9-based functional genomics have transformed our ability to elucidate
mammalian cell biology. However, most previous CRISPR-based screens were conducted …
mammalian cell biology. However, most previous CRISPR-based screens were conducted …
Mass spectrometry‐based protein–protein interaction networks for the study of human diseases
AL Richards, M Eckhardt, NJ Krogan - Molecular systems biology, 2021 - embopress.org
A better understanding of the molecular mechanisms underlying disease is key for
expediting the development of novel therapeutic interventions. Disease mechanisms are …
expediting the development of novel therapeutic interventions. Disease mechanisms are …
Autism spectrum disorder genetics and the search for pathological mechanisms
Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
[HTML][HTML] Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience
Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly
highlighted synaptic function and transcriptional regulation as key points of convergence …
highlighted synaptic function and transcriptional regulation as key points of convergence …
Tourette syndrome: clinical features, pathophysiology, and treatment
Tourette syndrome is a chronic neurodevelopmental disorder characterised by motor and
phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating …
phonic tics that can substantially diminish the quality of life of affected individuals. Evaluating …
[HTML][HTML] Network medicine in the age of biomedical big data
Network medicine is an emerging area of research dealing with molecular and genetic
interactions, network biomarkers of disease, and therapeutic target discovery. Large-scale …
interactions, network biomarkers of disease, and therapeutic target discovery. Large-scale …