Xingyuan Jiang, MD, MBBS
she/her/hers
Postdoctoral AssociateAbout
Research
Publications
2025
Progressive Symmetric Erythrokeratoderma in an Adolescent With a Novel GJB3 Variant
Ramírez‐Posada M, Arroyave C, Jiang X, Giraldo J, Chen T, Choate K, Rodríguez L. Progressive Symmetric Erythrokeratoderma in an Adolescent With a Novel GJB3 Variant. International Journal Of Dermatology 2025 PMID: 41366560, DOI: 10.1111/ijd.70200.Peer-Reviewed Original ResearchEfficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease
Echeandia-Francis C, Jiang X, Mortlock R, Goldust M, Milstone L, Choate K. Efficacy of interleukin-12/23 and interleukin-23 inhibitors in Hailey-Hailey disease. JAAD Case Reports 2025, 66: 115-118. DOI: 10.1016/j.jdcr.2025.09.027.Peer-Reviewed Original Research156 Prevalence and Severity of Ectropion Among Epidermal Differentiation Disorders
Luo A, Echeandia-Francis C, Jiang X, Ellis K, Mani M, Chen T, Gan G, Deng Y, Choate K. 156 Prevalence and Severity of Ectropion Among Epidermal Differentiation Disorders. Journal Of Investigative Dermatology 2025, 145: e56. DOI: 10.1016/j.jid.2025.09.171.Peer-Reviewed Original Research316 Cytokine Profiling of Monogenic Epidermal Differentiation Disorders
Mortlock R, Zhao M, Luo A, Echeandia-Francis C, Rabbaa L, Sun D, Chen T, Jiang X, Liu W, Junejo M, Cohen J, Damsky W, Paller A, Choate K. 316 Cytokine Profiling of Monogenic Epidermal Differentiation Disorders. Journal Of Investigative Dermatology 2025, 145: e81. DOI: 10.1016/j.jid.2025.09.318.Peer-Reviewed Original ResearchA 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 Research
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