Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Autor: Tetsuo Shoda, Kenneth M. Kaufman, Ting Wen, Julie M. Caldwell, Garrett A. Osswald, Pathre Purnima, Nives Zimmermann, Margaret H. Collins, Kira Rehn, Heather Foote, Michael D. Eby, Wenying Zhang, Netali Ben-Baruch Morgenstern, Adina Y. Ballaban, Jeff E. Habel, Leah C. Kottyan, J. Pablo Abonia, Vincent A. Mukkada, Philip E. Putnam, Lisa J. Martin, Marc E. Rothenberg
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-021-26939-9
Popis: Eosinophilic esophagitis (EoE) is a chronic allergic inflammatory disease with a complex underlying genetic etiology. Here, the authors identify a series of rare variants in DSP and PPL in multiplex families with EoE and uncover a pathogenic role for desmosomal dysfunction in EoE.
Databáze: Directory of Open Access Journals