ASH1L may contribute to risk of Tourette syndrome: combination of family-based analysis and case-control study
Brain and Behavior
What establishes the human disorder?
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
Human clinical & genetic
EVIDENCE TYPE
Functional genomics & cells
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
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 →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
Caf1 regulates the histone methyltransferase activity of Ash1 by sensing unmodified histone H3
Epigenetics & Chromatin
What does ASH1L do at chromatin?
Open citation, findings, and limits →MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes
Structure
What does ASH1L do at chromatin?
Open citation, findings, and limits →ASH1L-MRG15 methyltransferase deposits H3K4me3 and FACT for damage verification in nucleotide excision repair
Nature Communications
What does ASH1L do at chromatin?
Open citation, findings, and limits →Structural insight into ASH1L PHD finger recognizing methylated histone H3K4 and promoting cell growth in prostate cancer
Frontiers in Oncology
What does ASH1L do at chromatin?
Open citation, findings, and limits →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 →EVIDENCE TYPE
Extra-neural model systems
Ash1L ameliorates psoriasis via limiting neuronal activity-dependent release of miR-let-7b
British Journal of Pharmacology
Which extra-neural tissues have direct evidence?
Open citation, findings, and limits →H3K36 Di-Methylation Marks, Mediated by Ash1 in Complex with Caf1-55 and MRG15, Are Required during Drosophila Heart Development
Journal of Cardiovascular Development and Disease
Which extra-neural tissues have direct evidence?
Open citation, findings, and limits →ASH1L contributes to oocyte apoptosis by regulating DNA damage
American Journal of Physiology–Cell Physiology
Which extra-neural tissues have direct evidence?
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.
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