ArticleGenes and immunity2013
Genome-wide expression analysis suggests unique disease-promoting and disease-preventing signatures in Pemphigus vulgaris.
Article in Genes and immunity, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- Cytokine profiling reveals HLA-linked Th2 and Th17 driven immune activation in pemphigus vulgaris patients and genetically susceptible healthy controls.Frontiers in immunology · 2024Article
- Healthy individuals genetically at-risk for the development of Pemphigus vulgaris or Alopecia areata share disease-like cytokine dysregulation.Frontiers in immunology · 2024Article
- Inheritance-Specific Dysregulation of Th1- and Th17-Associated Cytokines in Alopecia Areata.Biomolecules · 2023Article
- HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients.Dermatology reports · 2022Article
- Article
- Marked to Die-Cell Death Mechanisms for Keratinocyte Acantholysis in Pemphigus Diseases.Life (Basel, Switzerland) · 2022Review
- Autoimmune Pemphigus: Latest Advances and Emerging Therapies.Frontiers in molecular biosciences · 2021Review
- Alternative splicing of leptin receptor overlapping transcript in osteosarcoma.Experimental biology and medicine (Maywood, N.J.) · 2020Article
- Article
- The Genetics of Pemphigus Vulgaris.Frontiers in medicine · 2018Review
- Pemphigus.Nature reviews. Disease primers · 2017Review
- Vitiligo blood transcriptomics provides new insights into disease mechanisms and identifies potential novel therapeutic targets.BMC genomics · 2017Article
- Multiplexed autoantigen microarrays identify HLA as a key driver of anti-desmoglein and -non-desmoglein reactivities in pemphigus.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Genome-wide gene expression profiling reveals unsuspected molecular alterations in pemphigus foliaceus.Immunology · 2014Article
- Interactome analysis of gene expression profile reveals potential novel key transcriptional regulators of skin pathology in vitiligo.Genes and immunityArticle
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To evaluate pathogenetic mechanisms underlying disease development and progression in the autoimmune skin disease Pemphigus vulgaris (PV), we examined global peripheral blood gene expression in patients and healthy controls. Our goals were to: (1) assign blood gene expression signatures to patients and controls; (2) identify differentially expressed genes (DEGs) and investigate functional pathways associated with these signatures; and (3) evaluate the distribution of DEGs across the genome to identify transcriptional 'hot spots'. Unbiased hierarchical clustering clearly separated patients from human leukocyte antigen (HLA)-matched controls (MCRs; 'disease' signature), and active from remittent patients ('activity' signature). DEGs associated with these signatures are involved in immune response, cytoskeletal reorganization, mitogen-activated protein kinase (MAPK) signaling, oxidation-reduction and apoptosis. We further found that MCRs carrying the PV-associated HLA risk alleles cluster distinctly from unmatched controls (UMCR) revealing an HLA-associated 'control' signature. A subset of DEGs within the 'control' signature overlap with the 'disease' signature, but are inversely regulated in MCR when compared with either PV patients or UMCR, suggesting the existence of a 'protection' signature in healthy individuals carrying the PV HLA genetic risk elements. Finally, we identified 19 transcriptional 'hot spots' across the signatures, which may guide future studies aimed at pinpointing disease risk genes.
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