Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo
Nature Neuroscience
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →EVIDENCE LIBRARY
Start with the research question. Then judge the evidence type.
Each of the 50 publications has a paper-specific research question and explanation of its limits. Human, cellular, in-vivo, molecular, extra-neural, and synthesis evidence remain distinct. Open any study to read its findings and limits together.
READING STANDARD
Start with the question each study can answer.
Human studies define association and phenotype. Cellular and in-vivo models test mechanism within a specific perturbation. Molecular studies define protein behavior. Context sources inform methods without becoming direct ASH1L evidence. The downloadable data explains why each source matters for the question being asked.
START WITH THE RESEARCH QUESTION
What are you trying to establish?
Each of the 50 publications is paired with one primary question and one evidence type.
EVIDENCE TYPE
Functional genomics & cells
EVIDENCE TYPE
In-vivo neurodevelopmental models
Thalamocortical transcriptional gates coordinate memory stabilization
Nature
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism
bioRxiv
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Ash1l loss-of-function results in structural birth defects and altered cortical development
Brain
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder
Neuron
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Neural hyperactivity is a core pathophysiological change induced by deletion of an autism risk gene Ash1l in the mouse brain
Frontiers in Behavioral Neuroscience
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors
Communications Biology
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
Nature Communications
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →EVIDENCE TYPE
Extra-neural model systems
Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α
Scientific Reports
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →AUTHORITATIVE DATABASES & RESEARCH RESOURCES
Use the live databases for current gene and variant records.
Database records change as laboratories submit evidence and expert panels update curation. Review transcript, condition, classification, review status, submitter, and date together.
GENE-DISEASE & DOSAGEClinGen — ASH1L
Expert-curated validity and dosage sensitivity.
Open ↗EXTERNAL VARIANT SOURCESExternal variant sourcesPublished variant sources, mapped protein positions, source links, and privacy boundaries.
Review →GENE REFERENCENCBI Gene — ASH1LIdentifiers, transcripts, expression, domains, and linked literature.
Open ↗VARIANT ARCHIVEClinVar — ASH1LSubmitted classifications with review status and condition context.
Open ↗AUTISM GENETICSSFARI Gene — ASH1LCurated human genetics and model-system evidence for ASH1L.
Open ↗LIVE LITERATURE SEARCHPubMed — ASH1LThe current indexed publication search beyond this library.
Open ↗FAMILY RESEARCHSimons Searchlight — ASH1LResearch participation and family-facing gene information.
Open ↗RECOMMEND A SOURCE
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