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Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

Genes(2023)10.3390/genes14040931Source: DataRank Database

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family is a research paper published in Genes (2023). On theSindex it has a DataRank of 0. It has been cited 5 times.

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Open Access5 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (6 grants)Impact (FWCI 0.47)OA: goldTopics (54)IDs (PubMed, PMC, OpenAlex)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 (5)

Sadaf Saba ORCID,Jun Li ORCID,Lev Prasov ORCID,Jason Miller ORCID,Lindsey M. Q. Wilson ORCID

Live enrichment

PubMed:37107689 PMC:PMC10137565 OpenAlex:https://openalex.org/W4366283433

NEI

Grant: K08EY033420

NEI

Grant: K08EY032098

NEI

Grant: T32GM007863

National Institutes of Health

Grant: 1K08EY032098-01

Defining the genetic landscape of nanophthalmos and the role of MYRF

National Institutes of Health

Grant: 5K08EY033420-02

Lipid Trafficking and Metabolism in the Retinal Pigment Epithelium

National Institutes of Health

Grant: 5T32GM007863-22

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAM

FWCI

0.47

Citation Percentile

0.6%

Citation Trend

2024

2025

2026

goldLicense: cc-by

journalhttps://www.mdpi.com/2073-4425/14/4/931/pdf?version=1681795780

publisherhttps://www.mdpi.com/2073-4425/14/4/931/pdf?version=1681795780

publisherhttps://www.mdpi.com/2073-4425/14/4/931/pdf

journalhttps://doi.org/10.3390/genes14040931

repositoryhttps://pubmed.ncbi.nlm.nih.gov/37107689

Fields of Study

Sphingolipid Metabolism and SignalingLysosomal Storage Disorders ResearchEndoplasmic Reticulum Stress and Disease0301 basic medicine0303 health sciences03 medical and health sciencesMaleHumansSphingolipidsSerine C-PalmitoyltransferaseSerineHereditary Sensory and Autonomic NeuropathiesTelangiectasis

MeSH Terms

HumansMaleHereditary Sensory and Autonomic NeuropathiesSerineSphingolipidsTelangiectasisSerine C-Palmitoyltransferase

Keywords

PenetranceProbandSphingolipidMacular telangiectasiaBiologyMacular degenerationPhenotypeGeneticsNeurodegenerationPathogenesisRetinalGeneMedicinePathologyImmunologyMutationBiochemistryOphthalmologyDiseaseFluorescein angiographyceramidesSphingolipidsDeoxyceramidesHereditary Sensory And Autonomic Neuropathy Type 1 (Hsan1)Macular Telangiectasia Type 2 (Mactel2)Serine Palmitoyltransferase Complex 1 (Sptlc1)Serine Palmitoyltransferase Complex 2 (Sptlc2)MaleSerine C-PalmitoyltransferaseSerineHumansCase ReportTelangiectasisHereditary Sensory and Autonomic Neuropathies

Sustainable Development Goals

SDG 0: Life in Land