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Expanding the Phenotypic spectrum of NAA10 -related neurodevelopmental syndrome and NAA15 -related neurodevelopmental syndrome

medRxiv(2022)10.1101/2022.08.22.22279061Source: DataRank Database

Expanding the Phenotypic spectrum of NAA10 -related neurodevelopmental syndrome and NAA15 -related neurodevelopmental syndrome is a research paper published in medRxiv (2022). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (4 grants)OA: greenTopics (36)IDs (PubMed, OpenAlex)SDGs (1)

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Accessible (1/2)

Open Access

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Reusable (0/3)

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Authors (24)

Marall Vedaie ORCID,Travis Besheim,Agnes Park ORCID,Elaine Marchi,Leah Gottlieb

Live enrichment

PubMed:30945415 OpenAlex:https://openalex.org/W4293088798

National Institutes of Health

Grant: 2R01GM060293-05

Structure and Function of Histone Acetyltransferases

National Institutes of Health

Grant: 5R35GM118090-05

Molecular Mechanisms and inhibition of Protein Acetyltransferases

National Institutes of Health

Grant: 5T32GM071339-08

Predoctoral Training at the Chemical-Biology Interface

National Institutes of Health

Grant: 5R35GM133408-04

Amino-terminal acetylation of proteins in mammalian biology and disease

greenLicense: cc-by-nc-nd

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/02/14/2022.08.22.22279061.full.pdf

GREENhttps://www.medrxiv.org/content/medrxiv/early/2023/02/14/2022.08.22.22279061.full.pdf

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2023/02/14/2022.08.22.22279061.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2022.08.22.22279061

repositoryhttps://doi.org/10.1101/2022.08.22.22279061

Fields of Study

Peptidase Inhibition and AnalysisSignaling Pathways in DiseaseProtease and Inhibitor MechanismsMedicineBiology0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

Frameshift mutationGeneticsAutism spectrum disorderBiologyPhenotypeProbandGenetic heterogeneityMicrophthalmiaGenePsychologyAutismPsychiatryMutationIDENTIFICATIONGenotypeSyndromeArticleMODELACETYLTRANSFERASESIntellectual DisabilityN-TERMINAL ACETYLATIONLETHALITYHumansMicrophthalmosYEASTFemaleN-Terminal Acetyltransferase EN-Terminal Acetyltransferase A

Sustainable Development Goals

SDG 0: Good health and well-being