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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113Source: DataRank Database

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0.

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (6 grants)OA: greenTopics (56)IDs (PubMed, OpenAlex)SDGs (1)

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (11)

Lauren C. Briere ORCID,Kristy Jay,Jonathan C. Andrews ORCID,Melissa Walker ORCID,Lance H. Rodan ORCID

Live enrichment

PubMed:36778246 OpenAlex:https://openalex.org/W4319075280

National Institutes of Health

Grant: 1U54NS093793-01

Leadership/Implementation Project

National Institutes of Health

Grant: 4UL1TR001102-04

Harvard Clinical and Translational Science Center

National Institutes of Health

Grant: 3U01HG007690-08S1

Center for Integrated Approached to Undiagnosed Diseases

NHGRI NIH HHS

Grant: U01 HG007690

NINDS NIH HHS

Grant: U54 NS093793

NCATS NIH HHS

Grant: UL1 TR001102

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/02/03/2023.01.31.23285113.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.01.31.23285113

repositoryhttps://doi.org/10.1101/2023.01.31.23285113

repositoryhttps://pubmed.ncbi.nlm.nih.gov/36778246

Fields of Study

Epigenetics and DNA MethylationGenomics and Chromatin DynamicsCancer-related gene regulation0301 basic medicine03 medical and health sciences0303 health sciences

Keywords

BiologyGeneticsDrosophila melanogasterEnhancerExome sequencingPhenotypeGeneHistone methyltransferaseEZH2ExomeEpigeneticsTranscription factormissense570Medical Sciences610E(z)DiseasesArticleBiomedical InformaticsHistonesCraniofacial AbnormalitiesCongenitalrare undiagnosed diseaseEZH1Medical SpecialtiesMedicine and Health SciencesCongenital Hypothyroidismpatterning defectand ImmunityHumansAnimalsDrosophila ProteinsEnhancer of Zeste Homolog 2 ProteinAbnormalities, MultipleBiological PhenomenaCell PhenomenaH3K27-trimethylationPolycomb Repressive Complex 2Life SciencesNuclear ProteinsGenetics and GenomicsHand Deformitiesdevelopmental delayMedical Molecular BiologyDrosophilaAbnormalitiesMultipleMedical GeneticsHand Deformities, Congenital

Sustainable Development Goals

SDG 3: 3. Good health