Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

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.

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/f2e541c35dcb4834913ac2dfae852b00
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