Xingyuan Jiang, MD, MBBS
she/her/hers
Postdoctoral AssociateAbout
Research
Publications
2025
Autosomal 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, ljaf049. PMID: 39913669, 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 ResearchTreatment 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 melanogenesisEruptive lichen planus treated with baricitinib: A case report.
Xue R, Jiang X. Eruptive lichen planus treated with baricitinib: A case report. Indian Journal Of Dermatology Venereology And Leprology 2024, 0: 1-3. PMID: 38314970, DOI: 10.25259/ijdvl_461_2023.Peer-Reviewed Original Research
2023
Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation
Gong Z, Zou X, Xue R, Zhu X, Jiang X. Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation. Journal Of Dermatological Science 2023, 110: 27-30. PMID: 36990856, DOI: 10.1016/j.jdermsci.2023.03.002.Peer-Reviewed Original ResearchBiallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
Zhou S, Jiang X, Zhu Y, Yang J, Yuan C, Chen M, Zhou Q, Lin Z, Li M. Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma. Experimental Dermatology 2023, 32: 699-706. PMID: 36811447, DOI: 10.1111/exd.14774.Peer-Reviewed Original Research
2022
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder
Gong Z, Dai S, Jiang X, Lee M, Zhu X, Wang H, Lin Z. Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder. British Journal Of Dermatology 2022, 188: 100-111. PMID: 36689511, DOI: 10.1093/bjd/ljac029.Peer-Reviewed Original Research
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