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KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.22.440945Source: DataRank Database

KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2021). On theSindex it has a DataRank of 0. It has been cited 13 times.

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Open Access13 citations

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Enrichment:Funding (1 grants)OA: greenTopics (21)IDs (PubMed, OpenAlex)SDGs (1)

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Authors (26)

Alessandro Vitriolo ORCID,Sara Cuvertino ORCID,Marlene F. Pereira ORCID,Celeste Franconi,Pierre‐Luc Germain ORCID

Live enrichment

PubMed:19162232 OpenAlex:https://openalex.org/W3153946792

European Commission

Grant: 616441

Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances

greenLicense: cc-by-nc-nd

repositoryhttps://www.biorxiv.org/content/biorxiv/early/2021/04/23/2021.04.22.440945.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2021.04.22.440945

repositoryhttps://doi.org/10.1101/2021.04.22.440945

https://dx.doi.org/10.1101/2021.04.22.440945

Fields of Study

Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation0301 basic medicine03 medical and health sciences

Keywords

HaploinsufficiencyChromatinBiologyEpigeneticsHistoneCell biologyNeural crestEnhancerPhenotypeReprogrammingKabuki syndromeSOX10GeneticsNeuroscienceTranscription factorGene

Sustainable Development Goals

SDG 3: 3. Good health