Angelman syndrome phenotype
Evidence from:
primary |
all sources
Related entities (5)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| Angelman syndrome | associated_with | autism | — | 1 |
| Angelman syndrome | associated_with | behavioral abnormalities | — | 1 |
| Angelman syndrome | associated_with | intellectual disability | — | 1 |
| autism | associated_with | Angelman syndrome | — | 1 |
| UBE3A | risk_factor_for | Angelman syndrome | — | 1 |
Mentioned in (23)
Papers in which this entity is mentioned.
- Intranasal Administration of KCNN2 Blocking Peptide Improves Deficits in Cognitive Flexibility in Mouse Model of Fetal Alcohol Spectrum Disorders. (2025)
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- DNA methylation in relation to gestational age and brain dysmaturation in preterm infants. (2022)
- PKA and Ube3a regulate SK2 channel trafficking to promote synaptic plasticity in hippocampus: Implications for Angelman Syndrome. (2020)
- DNA methylation and brain structure and function across the life course: A systematic review. (2020)
- Hippocampal deficits in neurodevelopmental disorders. (2019)
- Cerebrospinal fluid and the early brain development of autism. (2018)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
- Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
- Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. (2015)
- Common DNA methylation alterations in multiple brain regions in autism. (2014)
- Fetal alcohol spectrum disorders and their transmission through genetic and epigenetic mechanisms. (2014)
- Alcohol modulates expression of DNA methyltranferases and methyl CpG-/CpG domain-binding proteins in murine embryonic fibroblasts. (2013)
- Long-lasting alterations to DNA methylation and ncRNAs could underlie the effects of fetal alcohol exposure in mice. (2013)
- DNA methylation program in developing hippocampus and its alteration by alcohol. (2013)
- Aberrant expression of long noncoding RNAs in autistic brain. (2013)
- Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012)
- Pilot study of iPS-derived neural cells to examine biologic effects of alcohol on human neurons in vitro. (2012)
- Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease. (2011)
- DNA methylation and methyl-CpG binding proteins: developmental requirements and function. (2009)
- Large histone H3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells. (2009)
- Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)
- Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. (1998)
Merged raw entities (2)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| angelman syndrome | phenotype | 22 | 79 |
| angelman | phenotype | 1 | 1 |