Estradiol modulates neuronal network hyperexcitability in select NDD risk genes
bioRxiv
What perturbation or rescue experiments exist?
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
Dynamic regulation of the chromatin environment by ASH1L modulates human neuronal structure and function
bioRxiv
What perturbation or rescue experiments exist?
Open citation, findings, and limits →Overcoming the effect of ASH1L haploinsufficiency on stem cells amenability to genome editing and differentiation into neuronal lineage
bioRxiv
What perturbation or rescue experiments exist?
Open citation, findings, and limits →EVIDENCE TYPE
In-vivo neurodevelopmental models
Chemogenetic inhibition of prefrontal cortex ameliorates autism-like social deficits and absence-like seizures in a gene-trap Ash1l haploinsufficiency mouse model
Genes
What perturbation or rescue experiments exist?
Open citation, findings, and limits →Vorinostat, a histone deacetylase inhibitor, ameliorates sociability and cognitive memory in an Ash1L-deletion-induced ASD/ID mouse model
Neuroscience Letters
What perturbation or rescue experiments exist?
Open citation, findings, and limits →EVIDENCE TYPE
Molecular, biochemical & structural
Discovery of first-in-class inhibitors of ASH1L histone methyltransferase with anti-leukemic activity
Nature Communications
What perturbation or rescue experiments exist?
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
Suggest a paper for review.
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