Wnt/β-catenin-dependent transcription in autism spectrum disorders
MO Caracci, ME Avila… - Frontiers in molecular …, 2021 - frontiersin.org
Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental
disorders characterized by synaptic dysfunction and defects in dendritic spine morphology …
disorders characterized by synaptic dysfunction and defects in dendritic spine morphology …
[HTML][HTML] A 25-year odyssey of genomic technology advances and structural variant discovery
D Porubsky, EE Eichler - Cell, 2024 - cell.com
This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …
their impact on germline variant discovery within the field of human genetics. The field has …
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 …
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …
to neurological deficits, our understanding of the underlying molecular and cellular …
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Genetic variants in chromatin regulators are frequently found in neurodevelopmental
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
KCNQ2/3 gain-of-function variants and cell excitability: differential effects in CA1 versus L2/3 pyramidal neurons
N Varghese, B Moscoso, A Chavez… - Journal of …, 2023 - Soc Neuroscience
Gain-of-function (GOF) pathogenic variants in the potassium channels KCNQ2 and KCNQ3
lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders …
lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders …
[HTML][HTML] High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
Advancing from gene discovery in autism spectrum disorders (ASDs) to the identification of
biologically relevant mechanisms remains a central challenge. Here, we perform parallel in …
biologically relevant mechanisms remains a central challenge. Here, we perform parallel in …
Modern biomarkers for autism spectrum disorder: future directions
AR Jensen, AL Lane, BA Werner, SE McLees… - Molecular Diagnosis & …, 2022 - Springer
Autism spectrum disorder is an increasingly prevalent neurodevelopmental disorder in the
world today, with an estimated 2% of the population being affected in the USA. A major …
world today, with an estimated 2% of the population being affected in the USA. A major …
[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing
C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …
genes coding for synaptic proteins. These proteins oversee the process of …