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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spelling	oai:doaj.org-article:f2e541c35dcb4834913ac2dfae852b002021-11-28T12:35:24ZDesmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis10.1038/s41467-021-26939-92041-1723https://doaj.org/article/f2e541c35dcb4834913ac2dfae852b002021-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-26939-9https://doaj.org/toc/2041-1723Eosinophilic 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.Tetsuo ShodaKenneth M. KaufmanTing WenJulie M. CaldwellGarrett A. OsswaldPathre PurnimaNives ZimmermannMargaret H. CollinsKira RehnHeather FooteMichael D. EbyWenying ZhangNetali Ben-Baruch MorgensternAdina Y. BallabanJeff E. HabelLeah C. KottyanJ. Pablo AboniaVincent A. MukkadaPhilip E. PutnamLisa J. MartinMarc E. RothenbergNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
description	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.
format	article
author	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
author_facet	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
author_sort	Tetsuo Shoda
title	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
title_short	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
title_full	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
title_fullStr	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
title_full_unstemmed	Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
title_sort	desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/f2e541c35dcb4834913ac2dfae852b00
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Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis

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