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A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Genes(2021)10.3390/genes12111765Source: DataRank Database

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family is a research paper published in Genes (2021). On theSindex it has a DataRank of 0. It has been cited 9 times.

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Open Access9 citations

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Enrichment:Funding (6 grants)Impact (FWCI 0.69)OA: goldTopics (56)IDs (PubMed, PMC, OpenAlex)Annotations (3)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (16)

Isabelle Schrauwen ORCID,Leonardo Alves de Souza Rios ORCID,Shaheen Mowla ORCID,Cedrik Tekendo‐Ngongang ORCID,Kalinka Popel ORCID

Live enrichment

PubMed:34828371 PMC:PMC8618167 OpenAlex:https://openalex.org/W3211998808

National Institutes of Health

Grant: grant number U01-HG-009716 to A.W. and R01 DC01165, RO1 DC003594, and RO1 DC016593 to S.M.L

Wellcome Trust

Grant: H3A/18/001 to A.W

Wellcome Trust

Grant: H3A/18/001

NIDCD NIH HHS

Grant: R01 DC011651

NIDCD NIH HHS

Grant: R01 DC003594

NIDCD NIH HHS

Grant: R01 DC016593

FWCI

0.69

Citation Percentile

0.6%

Citation Trend

2022

2023

2024

2025

goldLicense: cc-by

journalhttps://www.mdpi.com/2073-4425/12/11/1765/pdf?version=1636367093

publisherhttps://www.mdpi.com/2073-4425/12/11/1765/pdf?version=1636367093

publisherhttps://www.mdpi.com/2073-4425/12/11/1765/pdf

journalhttps://doi.org/10.3390/genes12111765

repositoryhttps://pubmed.ncbi.nlm.nih.gov/34828371

Fields of Study

Hearing, Cochlea, Tinnitus, GeneticsDevelopmental Biology and Gene RegulationCancer-related molecular mechanisms researchAmino Acid SubstitutionCase-Control StudiesCell NucleusFemaleHEK293 CellsHearing Loss, SensorineuralHumansMaleModels, MolecularNeoplasm ProteinsPedigreeProtein Structure, SecondaryProtein Structure, TertiaryProto-Oncogene ProteinsRepressor ProteinsSouth AfricaExome SequencingRE1-Silencing Transcription Factor

MeSH Terms

Exome SequencingRE1-Silencing Transcription FactorCell NucleusFemaleHearing Loss, SensorineuralHumansMaleModels, MolecularNeoplasm ProteinsPedigreeProto-Oncogene ProteinsRepressor ProteinsSouth AfricaCase-Control StudiesProtein Structure, SecondaryProtein Structure, TertiaryAmino Acid SubstitutionHEK293 Cells

Keywords

Rest (music)ProbandSanger sequencingExome sequencingGeneticsBiologyMutantMutationGeneMedicineInternal medicineAfricaSouth AfricaRestRe1-silencing Transcription FactorNon-syndromic Hearing ImpairmentDfna27

Sustainable Development Goals

SDG 0: Good health and well-being

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

FAIR Checklist

Authors (16)

Funding (6 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)