Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms
L Larizza, P Finelli - Clinical Genetics, 2019 - Wiley Online Library
… A large number of monogenic DD/ID syndromes share chromatin dysregulation as … signs,69
or within the CH1 domain, showing autistic-like features70 usually manifested by a minority …
or within the CH1 domain, showing autistic-like features70 usually manifested by a minority …
[HTML][HTML] The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes
… These observations place chromatin dysfunction at the top of … Here we undertake a conceptual
investigation of chromatin … of NDD-causing chromatin dysregulation, with a special focus …
investigation of chromatin … of NDD-causing chromatin dysregulation, with a special focus …
PATIENT-SPECIFIC MODELLING OF SYNDROMIC AUTISM: UNCOVERING THE ROLE OF ADNP IN CHROMATIN DYSREGULATION
L Rizzuti - 2022 - tesidottorato.depositolegale.it
… Syndrome (HVDAS), a rare developmental syndrome affecting brain formation and neuronal
functions, involving autism … ASD, its precise role in the syndrome onset has yet to be clarified…
functions, involving autism … ASD, its precise role in the syndrome onset has yet to be clarified…
[HTML][HTML] Molecular dysregulation in autism spectrum disorder
PS Gill, JL Clothier, A Veerapandiyan… - Journal of Personalized …, 2021 - mdpi.com
… syndrome of early infantile autism in children aged two to eight years. Todate, the genetic
heterogeneity of this syndrome … A number of pathways dysregulated in ASD, involve chromatin …
heterogeneity of this syndrome … A number of pathways dysregulated in ASD, involve chromatin …
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
… as category 1–3, and syndromic from the SFARI. To … dysregulation, regardless of their
chromatin interactions. Among non-coding DNMs inside DHSs, we selected those not in chromatin …
chromatin interactions. Among non-coding DNMs inside DHSs, we selected those not in chromatin …
[HTML][HTML] Abnormal chromatin folding in the molecular pathogenesis of epilepsy and autism spectrum disorder: a meta-synthesis with systematic searching
O Davis - Molecular Neurobiology, 2023 - Springer
… elements become transcriptionally dysregulated. In a study of William-Beuren syndrome, in
which … between CNV and dysregulated gene expression through altered chromatin topology. …
which … between CNV and dysregulated gene expression through altered chromatin topology. …
[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
… to autism cluster on a relatively limited number of cellular pathways, including chromatin
remodeling. … genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). …
remodeling. … genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). …
[HTML][HTML] Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
… regulators, ubiquitin ligases, and other chromatin remodelers, which comprised over half of
that … theme to autism [30]. Our present results indicate that epigenetic dysregulation could …
that … theme to autism [30]. Our present results indicate that epigenetic dysregulation could …
Epigenetics of autism spectrum disorder: Histone deacetylases
… These epigenetic modifications, which appear dysregulated in ASD, lead to chromatin … In
addition, the MeCP2 protein, which is lacking in Rett syndrome, binds to Prader-Willi syndrome …
addition, the MeCP2 protein, which is lacking in Rett syndrome, binds to Prader-Willi syndrome …
Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder
CS Leung, SJ Rosenzweig, B Yoon… - Human Molecular …, 2023 - academic.oup.com
… These pathways are concordant with co-morbidities present in syndromic autism.
Furthermore, overlapping DEG- and DTU-ASD-specific risk genes showed similar enrichment (…
Furthermore, overlapping DEG- and DTU-ASD-specific risk genes showed similar enrichment (…
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