PATIENT-SPECIFIC MODELLING OF SYNDROMIC AUTISM: UNCOVERING THE ROLE OF ADNP IN CHROMATIN DYSREGULATION

L Rizzuti - 2022 - air.unimi.it
Abstract ADNP encodes Activity-Dependent Neuroprotective Protein, whose de novo
heterozygous mutations cause Helsmoortel-Van der Aa Syndrome (HVDAS), a rare …

[HTML][HTML] Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

CP D'Incal, KE Van Rossem, K De Man, A Konings… - Clinical …, 2023 - Springer
Background Individuals affected with autism often suffer additional co-morbidities such as
intellectual disability. The genes contributing to autism cluster on a relatively limited number …

Maintenance of Heterochromatin links Chromatin Modifiers and Neurodevelopment in Autism Spectrum Disorder

MR Garvin, D Kainer - medRxiv, 2023 - medrxiv.org
Autism spectrum disorder (ASD) is a highly heritable and highly heterogeneous
neuropsychiatric condition whose cause is still unknown because there are no recurrent …

[HTML][HTML] Pleiotropy of autism-associated chromatin regulators

M Lasser, N Sun, Y Xu, S Wang, S Drake… - …, 2023 - journals.biologists.com
Gene ontology analyses of high-confidence autism spectrum disorder (ASD) risk genes
highlight chromatin regulation and synaptic function as major contributors to pathobiology …

Autism genes converge on microtubule biology and RNA-binding proteins during excitatory neurogenesis

N Sun, N Teyssier, B Wang, S Drake, M Seyler… - bioRxiv, 2023 - biorxiv.org
Recent studies have identified over one hundred high-confidence (hc) autism spectrum
disorder (ASD) genes. Systems biological and functional analyses on smaller subsets of …

Autism spectrum disorder: understanding the impact of SNPs on biological pathways in the fetal and adult cortex

E Golovina, T Fadason, TJ Lints, C Walker, MH Vickers… - bioRxiv, 2021 - biorxiv.org
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
significant and complex genetic etiology. GWAS studies have identified genetic variants …

[HTML][HTML] Convergent pathways in idiopathic autism revealed by time course transcriptomic analysis of patient-derived neurons

BA DeRosa, J El Hokayem, E Artimovich… - Scientific reports, 2018 - nature.com
Potentially pathogenic alterations have been identified in individuals with autism spectrum
disorders (ASDs) within a variety of key neurodevelopment genes. While this hints at a …

Noncoding de novo mutations contribute to autism spectrum disorder via chromatin interactions

IB Kim, T Lee, J Lee, J Kim, H Lee, WK Kim, YS Ju… - bioRxiv, 2019 - biorxiv.org
Three-dimensional chromatin structures regulate gene expression across genome. The
significance of de novo mutations (DNMs) affecting chromatin interactions in autism …

Noncoding de novo mutations contribute to autism via long-range chromatin interactions

IB Kim, J Choi, JE Park, JC Lee, SB Jung - European Psychiatry, 2023 - cambridge.org
IntroductionThree-dimensional chromatin interactions regulate gene expressions. The
significance of de novo mutations (DNMs) in chromatin interactions remains poorly …

Genome-wide characterization of genetic and functional dysregulation in autism spectrum disorder

A Krishnan, R Zhang, V Yao, CL Theesfeld, AK Wong… - bioRxiv, 2016 - biorxiv.org
Autism spectrum disorder (ASD) is a range of major neurodevelopmental disabilities with a
strong genetic basis. Yet, owing to extensive genetic heterogeneity, multiple modes of …