Ankyrins and neurological disease
SR Stevens, MN Rasband - Current opinion in neurobiology, 2021 - Elsevier
Highlights•Ankyrins link membrane proteins to the cytoskeleton to form and maintain
membrane micro-domains.•Ankyrins cluster and organize protein complexes that modulate …
membrane micro-domains.•Ankyrins cluster and organize protein complexes that modulate …
Implications of disease-related mutations at protein–protein interfaces
D ** of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies
N Murtaza, AA Cheng, CO Brown, DP Meka, S Hong… - Cell Reports, 2022 - cell.com
There are hundreds of risk genes associated with autism spectrum disorder (ASD), but
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …
Towards a change in the diagnostic algorithm of autism spectrum disorders: evidence supporting whole exome sequencing as a first-tier test
A Arteche-López, MJ Gómez Rodríguez… - Genes, 2021 - mdpi.com
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous
neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the …
neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the …
Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
PD Talukdar, U Chatterji - Signal Transduction and Targeted Therapy, 2023 - nature.com
Specific cell states in metazoans are established by the symphony of gene expression
programs that necessitate intricate synergic interactions between transcription factors and …
programs that necessitate intricate synergic interactions between transcription factors and …
Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions
Abstract Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition
characterized by altered brain connectivity and function. In this study, we employed …
characterized by altered brain connectivity and function. In this study, we employed …
Characterization of cell-cell communication in autistic brains with single-cell transcriptomes
M Astorkia, HM Lachman, D Zheng - Journal of Neurodevelopmental …, 2022 - Springer
Background Autism spectrum disorder is a neurodevelopmental disorder, affecting 1–2% of
children. Studies have revealed genetic and cellular abnormalities in the brains of affected …
children. Studies have revealed genetic and cellular abnormalities in the brains of affected …
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
Chromatin remodelling is an important process in neural development and is related to
autism spectrum disorder (ASD) and schizophrenia (SCZ) aetiology. To further elucidate the …
autism spectrum disorder (ASD) and schizophrenia (SCZ) aetiology. To further elucidate the …
Statistical methods for assessing the effects of de novo variants on birth defects
With the development of next-generation sequencing technology, de novo variants (DNVs)
with deleterious effects can be identified and investigated for their effects on birth defects …
with deleterious effects can be identified and investigated for their effects on birth defects …
The genetic landscape of autism spectrum disorder in the Middle Eastern population
Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social
interaction and communication associated with repetitive behaviors and interests, with …
interaction and communication associated with repetitive behaviors and interests, with …