Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
About this item
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Author / Creator
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. and Rothenberg, Marc E.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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, heterozygous, missense variants are identified in the gen...
Alternative Titles
Full title
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis
Authors, Artists and Contributors
Author / Creator
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.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f2e541c35dcb4834913ac2dfae852b00
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f2e541c35dcb4834913ac2dfae852b00
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-26939-9
