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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975Source: DataRank Database

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function is a research paper published in Human Mutation (2020). On theSindex it has a DataRank of 0. It has been cited 113 times.

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Enrichment:Funding (15 grants)OA: hybridTopics (56)IDs (PubMed, PMC)Annotations (2)SDGs (1)

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Authors (63)

Sehoon Park ORCID,Francesco Gavazzi ORCID,Laura Adang ORCID,Loveline A. Ayuk,Lien Van Eyck

Live enrichment

PubMed:31898846 PMC:PMC7457149

Public Health Research Programme

Grant: TRF‐2016‐09‐002

H2020 European Research Council

Grant: 786142‐E‐T1IFNs

Agence Nationale de la Recherche

Grant: ANR‐10‐IAHU‐01

NCATS NIH HHS

Grant: KL2 TR001879

Great Ormond Street Hospital Childrens Charity

Grant: W1109

National Institute for Health Research (NIHR)

Grant: TRF-2016-09-002

Great Ormond Street Hospital Childrens Charity

Grant: V0218

Great Ormond Street Hospital Childrens Charity

Grant: W1118

Action Medical Research

Grant: 1745

European Research Council

Grant: 786142

Elaboration of the type I interferonopathies

NICHD NIH HHS

Grant: U01 HD082806

NINDS NIH HHS

Grant: U01 NS106845

Great Ormond Street Hospital Childrens Charity

Grant: W1122

National Institutes of Health

Grant: 1U01HD082806-01

Antiretroviral Therapy in Aicardi Goutieres Syndrome

National Institutes of Health

Grant: 5KL2TR001879-04

Institutional Clinical and Translational Science Award

hybridLicense: cc-by

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23975

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.23975

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23975

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/humu.23975

repositoryhttps://research.manchester.ac.uk/en/publications/b148e5cd-3827-45ad-bceb-3d387ececde5

Fields of Study

0301 basic medicine03 medical and health sciences0303 health sciences

MeSH Terms

HumansAutoimmune Diseases of the Nervous SystemNervous System MalformationsDNA Mutational AnalysisProtein ConformationStructure-Activity RelationshipGenotypePhenotypeAllelesModels, MolecularFemaleMaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingInterferon-Induced Helicase, IFIH1Gain of Function Mutation

Keywords

MDA5Aicardi-goutières SyndromeIfih1Singleton Merten SyndromeType I InterferonopathyMaleModels, MolecularInterferon-Induced Helicase, IFIH1Aicardi–Goutières syndromeGenotypeProtein Conformation[SDV]Life Sciences [q-bio]DNA Mutational Analysis610Aicardi–Goutières syndrome; IFIH1; MDA5; Singleton Merten syndrome; Type I interferonopathyNervous System MalformationsSciences de la santé humaineArticleAicardi–Goutières syndromeStructure-Activity RelationshipAutoimmune Diseases of the Nervous SystemGeneticAicardi-Goutieres syndromeNeurologieHumansHuman health sciencesAllelesGenetic Association Studiesdiseasefunction mutationHigh-Throughput Nucleotide Sequencing[SDV] Life Sciences [q-bio]PhenotypeNeurologyGain of Function MutationInterferonFemale

Sustainable Development Goals

SDG 3: 3. Good health

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

FAIR Checklist

Authors (63)

Funding (15 grants)

Open Access

Topics

Annotations (Europe PMC)