Xingyuan Jiang, MD, MBBS
she/her/hers
Postdoctoral AssociateAbout
Research
Publications
2025
A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Pironon N, Zhou J, Hu R, Liu W, Acosta A, Shwayder T, Hovnanian A, Lifton R, Choate K. A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2509896122. PMID: 40758889, PMCID: PMC12358830, DOI: 10.1073/pnas.2509896122.Peer-Reviewed Original ResearchConceptsAssociated with focal adhesion kinaseEpidermal growth factor receptorRecurrent de novo missense variantFocal adhesion kinaseGain-of-function mechanismActivation of signaling pathwaysSingle-cell spatial transcriptomicsReceptor tyrosine kinasesMissense variantsMyelin protein 22Sites of wound healingTetraspan proteinProgressive symmetric erythrokeratodermaGenetic investigationsSignaling pathwayEpidermal integrityTyrosine kinaseSpatial transcriptomicsEpidermal differentiationEpidermal growth factor receptor inhibitorsGrowth factor receptorSkin disordersMyelin proteinsProtein 22Kinase0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant
Jiang X, Chen T, Hu R, Mortlock R, Ko C, Choate K. 0571 Linear epidermal nevus caused by a novel mosaic heterozygous PTPN11 variant. Journal Of Investigative Dermatology 2025, 145: s99. DOI: 10.1016/j.jid.2025.06.578.Peer-Reviewed Original Research0541 Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Zhou J, Hu R, Lomakin I, Bunick C, Choate K. 0541 Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma. Journal Of Investigative Dermatology 2025, 145: s94. DOI: 10.1016/j.jid.2025.06.548.Peer-Reviewed Original ResearchLinear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant
Jiang X, Chen T, Hu R, Mortlock R, Ko C, Choate K. Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant. British Journal Of Dermatology 2025, 193: 568-570. PMID: 40442926, PMCID: PMC12360036, DOI: 10.1093/bjd/ljaf210.Peer-Reviewed Original ResearchAutosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
Jiang X, Mortlock R, Lomakin I, Zhou J, Hu R, Cossio M, Bunick C, Choate K. Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma. British Journal Of Dermatology 2025, 192: 896-906. PMID: 39913669, PMCID: PMC12036768, DOI: 10.1093/bjd/ljaf049.Peer-Reviewed Original ResearchProgressive symmetric erythrokeratodermaAmino acidsGenetic variantsPathogenic variantsNF-kB signalingPalmoplantar keratodermaSpatial transcriptomicsPatient keratinocytesWhole-exome sequencingSLURP1 expressionIn silico predictionVariant consequencesSignal peptideMal de MeledaExome sequencingSecreted proteinsHealthy control cellsInnate immune activationIn silico modelsPhenotypic spectrumControl cellsConfirmed with mass spectrometryAminoAutosomal dominant transmissionTranscriptome
2024
Nagashima‐type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants
Jiang X, Yang C, Wang H, Cai L, Lin Z. Nagashima‐type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants. The Journal Of Dermatology 2024, 52: e214-e215. PMID: 39034590, DOI: 10.1111/1346-8138.17399.Peer-Reviewed Original ResearchSodium-Dependent Multivitamin Transporter Deficiency
Jiang X, Wang H, Lin Z. Sodium-Dependent Multivitamin Transporter Deficiency. JAMA Dermatology 2024, 160: 993-994. PMID: 39018031, DOI: 10.1001/jamadermatol.2024.1845.Peer-Reviewed Original ResearchUnilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway.
Gong Z, Peng S, Wang H, Jiang X, Ke X, Lin Z. Unilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway. European Journal Of Dermatology 2024, 34: 287-293. PMID: 39015962, DOI: 10.1684/ejd.2024.4704.Peer-Reviewed Original ResearchConceptsFocal palmoplantar keratodermaLaser capture microdissectionIdentified missense variantsPalmoplantar keratodermaWhole-exome sequencingMissense variantsGenomic DNASomatic variantsGenetic basisSanger sequencingMolecular dockingPostzygotic variantsBiological processesPI3K/AKT/mTOR pathwayPhenotypic heterogeneityEpidermal nevusPatient's peripheral bloodCongenital overgrowth disorderVariantsPIK3CASequencePeripheral bloodPI3K/Akt/mTOR signalingAffected epidermisOvergrowth disorderTreatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib
Gong Z, Wang Y, Jiang X, Wang H, Lin Z. Treatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib. Journal Of The European Academy Of Dermatology And Venereology 2024, 39: e91-e93. PMID: 38808853, DOI: 10.1111/jdv.20130.Peer-Reviewed Original ResearchLoss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
Jiang X, Yang C, Wang Z, Liang L, Gong Z, Huang S, Xu Z, Zhang B, Pei X, Cai L, Wang H, Lin Z. Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. British Journal Of Dermatology 2024, 191: 107-116. PMID: 38489583, DOI: 10.1093/bjd/ljae108.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsMNT-1 cellsMinigene assaySkin hyperpigmentationGlomuvenous malformationsSkin lesionsUpregulation of microphthalmia-associated transcription factorSmall interfering RNA assaysMicrophthalmia-associated transcription factorDonor splice siteGeneralized skin hyperpigmentationWhole-exome sequencingProportion of stage IIIPhosphorylated p70S6KHyperpigmented skin disordersHyperpigmented skin lesionsSplice siteSplicing alterationsGenetic basisGenetic heterogeneityTranscription factorsSanger sequencingUnrelated familiesPremelanosome proteinSkin melanogenesis
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