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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

PLoS Genetics(2022)10.1371/journal.pgen.1010192Source: DataRank Database

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification is a research paper published in PLoS Genetics (2022). On theSindex it has a DataRank of 0. It has been cited 32 times.

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Open Access32 citations

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Enrichment:Funding (4 grants)Impact (FWCI 4.55)OA: goldTopics (51)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (2)

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 (12)

Yvonne Nitschke ORCID,Michael A. Levine ORCID,Matthew Caffet ORCID,Tamara Wurst ORCID,Amir Hossein Saeidian ORCID

Live enrichment

PubMed:35482848 PMC:PMC9089899 OpenAlex:https://openalex.org/W4225147859

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Grant: R01AR072695

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Grant: R21AR077332

National Institutes of Health

Grant: 1R01AR072695-01

Novel Treatments for PXE

National Institutes of Health

Grant: 1R21AR077332-01A1

Pharmacologic Intervention for Ectopic Calcification

FWCI

4.55

Citation Percentile

1.0%

Citation Trend

2020

2022

2023

2024

2025

2026

goldLicense: cc-by

journalhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010192&type=printable

publisherhttps://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010192&type=printable

publisherhttps://dx.plos.org/10.1371/journal.pgen.1010192

journalhttps://doi.org/10.1371/journal.pgen.1010192

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35482848

Fields of Study

Dermatological and Skeletal DisordersSkin and Cellular Biology ResearchHeterotopic Ossification and Related Conditions0301 basic medicine0303 health sciences03 medical and health sciencesGenetic HeterogeneityHumansATP-Binding Cassette, Sub-Family C ProteinsMutationPhosphoric Diester HydrolasesPseudoxanthoma ElasticumPyrophosphatasesVascular CalcificationArterial calcification of infancy

MeSH Terms

HumansMutationPhosphoric Diester HydrolasesPseudoxanthoma ElasticumPyrophosphatasesGenetic HeterogeneityMultidrug Resistance-Associated ProteinsATP-Binding Cassette, Sub-Family C ProteinsVascular Calcification

Keywords

Pseudoxanthoma elasticumEctopic calcificationBiologyGenetic heterogeneityGeneticsPhenotypeCalcificationGeneMedicinePathologyATP-Binding Cassette, Sub-Family C ProteinsPhosphoric Diester HydrolasesJefferson College of Life Sciences610QH426-470Department of Dermatology and Cutaneous BiologyThomas Jefferson UniversityMutationSidney Kimmel Medical CollegeGenomics and Cancer Biology Ph.D. ProgramHumansMultidrug Resistance-Associated ProteinsPyrophosphatasesJefferson Institute of Molecular MedicineVascular CalcificationMedical GeneticsResearch Article

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Partnerships for the goals

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification

FAIR Checklist

Authors (12)

Funding (4 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)