2023
Inflammation of the retinal pigment epithelium drives early-onset photoreceptor degeneration in Mertk-associated retinitis pigmentosa
Mercau M, Akalu Y, Mazzoni F, Gyimesi G, Alberto E, Kong Y, Hafler B, Finnemann S, Rothlin C, Ghosh S. Inflammation of the retinal pigment epithelium drives early-onset photoreceptor degeneration in Mertk-associated retinitis pigmentosa. Science Advances 2023, 9: eade9459. PMID: 36662852, PMCID: PMC9858494, DOI: 10.1126/sciadv.ade9459.Peer-Reviewed Original ResearchConceptsRetinal pigment epitheliumEarly-onset photoreceptor degenerationPR degenerationPigment epitheliumPhotoreceptor degenerationMERTK-associated retinitis pigmentosaJAK1/2 inhibitor ruxolitinibMicroglia activationMonocyte infiltrationInhibitor ruxolitinibMouse modelInflammationLoss of functionDefective phagocytosisInflammation drivesRetinitis pigmentosaDegenerationHypomorphic expressionMiceEpitheliumPhagocytosisRuxolitinibPigmentosaSeverity
2015
A short N-terminal domain of HDAC4 preserves photoreceptors and restores visual function in retinitis pigmentosa
Guo X, Wang SB, Xu H, Ribic A, Mohns EJ, Zhou Y, Zhu X, Biederer T, Crair MC, Chen B. A short N-terminal domain of HDAC4 preserves photoreceptors and restores visual function in retinitis pigmentosa. Nature Communications 2015, 6: 8005. PMID: 26272629, PMCID: PMC4538705, DOI: 10.1038/ncomms9005.Peer-Reviewed Original ResearchConceptsRetinitis pigmentosaVisual functionRd1 miceCone photoreceptor deathMultiple cell death pathwaysRd1 mutationPhotoreceptor protectionPhotoreceptor deathEffective treatmentAnimal modelsPhotoreceptor degenerationRod deathCone photoreceptorsRod survivalInvaluable animal modelHDAC4 proteinMicePigmentosaCell death pathwaysRod photoreceptorsProtein therapyTherapyHDAC4DeathSurvival
1967
Urticaria as a Sign of Internal Disease
Braverman I. Urticaria as a Sign of Internal Disease. Postgraduate Medicine 1967, 41: 450-454. PMID: 6044098, DOI: 10.1080/00325481.1967.11696947.Peer-Reviewed Original ResearchConceptsConnective tissue diseasePercent of casesChronic urticariaLupus erythematosusSystemic involvementSerum hepatitisTissue diseaseUrticaria pigmentosaInternal diseasesUrticariaUnknown originDiseaseImportant signSignsAdult formDiagnostic featuresArthralgiaErythematosusHepatitisPatientsFeverMalignancyPigmentosa
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