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 …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
Optical genome mapping enables constitutional chromosomal aberration detection
T Mantere, K Neveling, C Pebrel-Richard… - The American Journal of …, 2021 - cell.com
Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …
Autism genetics: opportunities and challenges for clinical translation
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …
risk effects are highly variable, and they are frequently related to other conditions besides …
Down syndrome and the complexity of genome dosage imbalance
SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …
gain dosage imbalances, including microduplications. The functional genomic exploration of …
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 …
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach
BA Fernandez, SW Scherer - Dialogues in clinical neuroscience, 2017 - Taylor & Francis
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions
diagnosed solely on the basis of behavioral assessments that reveal social deficits …
diagnosed solely on the basis of behavioral assessments that reveal social deficits …
Dual-specificity, tyrosine phosphorylation-regulated kinases (DYRKs) and cdc2-like kinases (CLKs) in human disease, an overview
MF Lindberg, L Meijer - International Journal of Molecular Sciences, 2021 - mdpi.com
Dual-specificity tyrosine phosphorylation-regulated kinases (DYRK1A, 1B, 2-4) and cdc2-
like kinases (CLK1-4) belong to the CMGC group of serine/threonine kinases. These protein …
like kinases (CLK1-4) belong to the CMGC group of serine/threonine kinases. These protein …
Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery
C De Masi, P Spitalieri, M Murdocca, G Novelli… - Human genomics, 2020 - Springer
Human-induced pluripotent stem cells (hiPSCs) and CRISPR/Cas9 gene editing system
represent two instruments of basic and translational research, which both allow to acquire …
represent two instruments of basic and translational research, which both allow to acquire …
DYRK1A and cognition: A lifelong relationship
ML Arbones, A Thomazeau… - Pharmacology & …, 2019 - Elsevier
The dosage of the serine threonine kinase DYRK1A is critical in the central nervous system
(CNS) during development and aging. This review analyzes the functions of this kinase by …
(CNS) during development and aging. This review analyzes the functions of this kinase by …