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TranscriptomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [multi-omic]
Here, to characterize HVDAS in a developmental setting, we generated cortical brain organoids of 5 control and 5 HVDAS lines and profiled them by single-cell RNA- and ATAC-seq. Organoids were grown for 30 days using the protocol 10.1016/j.stem.2019.08.002. To reduce batch effects and costs, and maxi...
ORGANISM(S): Homo sapiens 
2026-01-27 | E-MTAB-16422 | biostudies-arrayexpress
TranscriptomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome
Our experimental workflow was designed to study the role of ADNP in pluripotency and neuronal differentiation. Collectivelty, we profiled 12 iPSC, 2 NSC and 10 cortical brain organoids lines. This dataset contains RNA-seq profiling of iPSC and NSC, respectively capturing patient-derived transcriptio...
ORGANISM(S): Homo sapiens 
2026-01-31 | E-MTAB-15963 | biostudies-arrayexpress
GenomicsDisruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [ ChIP-seq ]
This work attempt at characterizing the DNA binding activity of ADNP in healthy lines, HVDAS lines, and ADNP KO lines. We profiled also the epigenomic landscape of the same lines, to reconstruct the molecular basis of HVDAS at early stages of neurodevelopment. We performed ChIP-seq of active enhance...
ORGANISM(S): Homo sapiens 
2026-01-26 | E-MTAB-16527 | biostudies-arrayexpress
ProteomicsPhosphoproteomic analysis of ADNP-mutant mice
We report age-differential synaptic plasticity deficits associated with cognitive inflexibility and CaMKIIa hyperactivity in Adnp-mutant mice. These mice show impaired and inflexible contextual learning and memory along with social and anxiety-related deficits in adults, long after the juvenile-stag...
ORGANISM(S): Mus musculus (Mouse) 
2023-07-11 | PXD037325 | Pride
Phosphoproteomics Autism spectrum disorder Adnp syndrome Lc-ms/ms 
GenomicsEpisignatures stratifying ADNP syndrome show modest correlation with phenotype [Methylation]
Episignatures stratifying ADNP syndrome show modest correlation with phenotype [Methylation]
PRJNA639288 | ENA
GenomicsTranscriptomic analysis uncovers an unfolded protein response in ADNP syndrome
Transcriptomic analysis uncovers an unfolded protein response in ADNP syndrome
PRJNA1177780 | ENA
GenomicsEpisignatures stratifying ADNP syndrome show modest correlation with phenotype [RNA-seq]
Episignatures stratifying ADNP syndrome show modest correlation with phenotype [RNA-seq]
PRJNA639278 | ENA
UnknownSensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
Not available
S-EPMC7997330 | biostudies-literature
ProteomicsProteomic analysis of Adnp mutant mice
We report age-differential synaptic plasticity deficits associated with cognitive inflexibility and CaMKIIa hyperactivity in Adnp-mutant mice. These mice show impaired and inflexible contextual learning and memory additional to social and anxiety-related deficits in adults long after a marked decrea...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
MSV000090257 | MassIVE
UnknownAn open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome.
Not available
S-EPMC9471202 | biostudies-literature
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