The autism spectrum phenotype in ADNP syndrome
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DOI: 10.1002/aur.1980
Abstract: Pathogenic disruptions to the activity‐dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features,… read more here.
Keywords: autism; adnp syndrome; idiopathic asd; asd ... See more keywords
GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
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DOI: 10.1016/j.scr.2019.101446
Abstract: ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuclear… read more here.
Keywords: line; autism; adnp syndrome; genyoi004 induced ... See more keywords
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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DOI: 10.1186/s13148-019-0658-5
Abstract: BackgroundADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption… read more here.
Keywords: methylation episignatures; dna; specific dna; adnp syndrome ... See more keywords