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. Herein, we conduct whole-exome sequencing of a multigeneration EoE pedigree (discovery set) and 61 additional multiplex families with EoE (replication set). A series of rare, heteroz...

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Detalles Bibliográficos
Autores principales: Shoda, Tetsuo, Kaufman, Kenneth M., Wen, Ting, Caldwell, Julie M., Osswald, Garrett A., Purnima, Pathre, Zimmermann, Nives, Collins, Margaret H., Rehn, Kira, Foote, Heather, Eby, Michael D., Zhang, Wenying, Ben-Baruch Morgenstern, Netali, Ballaban, Adina Y., Habel, Jeff E., Kottyan, Leah C., Abonia, J. Pablo, Mukkada, Vincent A., Putnam, Philip E., Martin, Lisa J., Rothenberg, Marc E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611043/
https://www.ncbi.nlm.nih.gov/pubmed/34815391
http://dx.doi.org/10.1038/s41467-021-26939-9

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