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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

International Journal of Molecular Sciences(2020)10.3390/ijms21072635Source: DataRank Database

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies is a research paper published in International Journal of Molecular Sciences (2020). On theSindex it has a DataRank of 0. It has been cited 29 times.

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Enrichment:Funding (5 grants)OA: goldTopics (55)IDs (PubMed, PMC)Annotations (1)SDGs (3)

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Authors (35)

Takako I. Jones ORCID,Monica Govi,Fabiano Mele,Louise Maranda ORCID,Francesco Sera ORCID

Live enrichment

PubMed:32290091 PMC:PMC7178248

Fondazione Telethon

Grant: GUP13012

AFM-Téléthon

Grant: 16593

Regione Emilia-Romagna

Grant: RARER

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Grant: R01AR062587

National Institutes of Health

Grant: 4R01AR062587-04

Mechanisms of DUX4 mediated FSHD pathology

goldLicense: cc-by

publisherhttps://www.mdpi.com/1422-0067/21/7/2635/pdf?version=1586507242

publisherhttps://www.mdpi.com/1422-0067/21/7/2635/pdf

repositoryhttps://escholarship.umassmed.edu/oapubs/4214

repositoryhttps://amu.hal.science/hal-03142878

repositoryhttps://doaj.org/article/5b6b3f45c2674a0395380962e0671831

Fields of Study

0301 basic medicine03 medical and health sciences

MeSH Terms

HumansMuscular Dystrophy, FacioscapulohumeralGenetic Predisposition to DiseaseROC CurvePedigreeFamilyDNA MethylationEpigenesis, GeneticGenotypePhenotypeAllelesGenetic Association StudiesEpigenomicsBiological Variation, Population

Keywords

DNA methylationMolecular diagnosisFshdGenotype–phenotype CorrelationD4z4 Reduced AlleleEpigenomicsGenotype-phenotype correlationGenotypeBiochemical PhenomenaD4Z4 reduced allele; DNA methylation; FSHD; Genotype-phenotype correlation; Molecular diagnosis[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsD4Z4 reduced allele; DNA methylation; FSHD; genotype–phenotype correlation; molecular diagnosisArticleEpigenesis, GeneticCongenitalD4Z4 reduced allele; DNA methylation; FSHD; genotype-phenotype correlation; molecular diagnosis; alleles; biological variation, population; DNA methylation; family; genetic predisposition to disease; humans; muscular dystrophy; facioscapulohumeral; pedigree; ROC curve; epigenesis, genetic; epigenomics; genetic association studies; genotype; phenotypeDiagnosis[SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular BiologyHumansFamilyGenetic Predisposition to DiseaseMolecular BiologyAllelesGenetic Association Studiesand NutritionEpigenetic Signature, Facioscapulohumeral Muscular DystrophyGenetics and GenomicsD4Z4 reduced allele; DNA methylation; FSHD; Genotype-phenotype correlation; Molecular diagnosis; Alleles; Biological Variation, Population; DNA Methylation; Family; Genetic Predisposition to Disease; Humans; Muscular Dystrophy, Facioscapulohumeral; Pedigree; ROC Curve; Epigenesis, Genetic; Epigenomics; Genetic Association Studies; Genotype; PhenotypeMuscular Dystrophy, FacioscapulohumeralPedigree[SDV] Life Sciences [q-bio]MetabolismHereditaryPhenotypeBiological Variation, PopulationROC Curve[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]Nervous System Diseasesand Neonatal Diseases and Abnormalities

Sustainable Development Goals

SDG 3: 3. Good healthSDG 10: 10. No inequalitySDG 13: 13. Climate action

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

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Authors (35)

Funding (5 grants)

Open Access

Topics

Annotations (Europe PMC)