FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2801479130> ?p ?o ?g. }

• W2801479130 abstract "Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain–containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0.01). Interestingly, we also identified 7 variants in the DHTKD1 homolog oxoglutarate dehydrogenase-like (OGDHL). Using shRNA-transduced esophageal epithelial cells and/or patient fibroblasts, we further showed that disruption of normal DHTKD1 or OGDHL expression blunts mitochondrial function. Finally, we demonstrated that the loss of DHTKD1 expression increased ROS production and induced the expression of viperin, a gene previously shown to be involved in production of Th2 cytokines in T cells. Viperin had increased expression in esophageal biopsies of EoE patients compared with control individuals and was upregulated by IL-13 in esophageal epithelial cells. These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE." @default.
• W2801479130 created "2018-05-17" @default.
• W2801479130 creator A5008616663 @default.
• W2801479130 creator A5014962817 @default.
• W2801479130 creator A5017236814 @default.
• W2801479130 creator A5023110598 @default.
• W2801479130 creator A5024288123 @default.
• W2801479130 creator A5029860081 @default.
• W2801479130 creator A5031938398 @default.
• W2801479130 creator A5036179300 @default.
• W2801479130 creator A5056639915 @default.
• W2801479130 creator A5058290389 @default.
• W2801479130 creator A5061226924 @default.
• W2801479130 creator A5063801029 @default.
• W2801479130 creator A5064856328 @default.
• W2801479130 creator A5065518118 @default.
• W2801479130 creator A5073905831 @default.
• W2801479130 creator A5076936300 @default.
• W2801479130 creator A5080780840 @default.
• W2801479130 creator A5086186709 @default.
• W2801479130 date "2018-04-19" @default.
• W2801479130 modified "2023-10-16" @default.
• W2801479130 title "Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis" @default.
• W2801479130 cites W1560978813 @default.
• W2801479130 cites W1576144282 @default.
• W2801479130 cites W1582324223 @default.
• W2801479130 cites W1937160990 @default.
• W2801479130 cites W1965442268 @default.
• W2801479130 cites W1965860865 @default.
• W2801479130 cites W1967314244 @default.
• W2801479130 cites W1967926844 @default.
• W2801479130 cites W1970395867 @default.
• W2801479130 cites W1978980985 @default.
• W2801479130 cites W1980740976 @default.
• W2801479130 cites W1993253390 @default.
• W2801479130 cites W1995481725 @default.
• W2801479130 cites W1996189137 @default.
• W2801479130 cites W1997315992 @default.
• W2801479130 cites W1997349413 @default.
• W2801479130 cites W1999351218 @default.
• W2801479130 cites W2000885209 @default.
• W2801479130 cites W2005895346 @default.
• W2801479130 cites W2011298735 @default.
• W2801479130 cites W2013221728 @default.
• W2801479130 cites W2019152596 @default.
• W2801479130 cites W2023490488 @default.
• W2801479130 cites W2025032853 @default.
• W2801479130 cites W2029765622 @default.
• W2801479130 cites W2043455587 @default.
• W2801479130 cites W2049065312 @default.
• W2801479130 cites W2051210555 @default.
• W2801479130 cites W2051293037 @default.
• W2801479130 cites W2052649732 @default.
• W2801479130 cites W2052932569 @default.
• W2801479130 cites W2059145105 @default.
• W2801479130 cites W2061093976 @default.
• W2801479130 cites W2076357933 @default.
• W2801479130 cites W2085338988 @default.
• W2801479130 cites W2086072858 @default.
• W2801479130 cites W2088414266 @default.
• W2801479130 cites W2092237732 @default.
• W2801479130 cites W2094377686 @default.
• W2801479130 cites W2096791516 @default.
• W2801479130 cites W2098949725 @default.
• W2801479130 cites W2103842702 @default.
• W2801479130 cites W2104298123 @default.
• W2801479130 cites W2105408775 @default.
• W2801479130 cites W2111326065 @default.
• W2801479130 cites W2113762991 @default.
• W2801479130 cites W2114029728 @default.
• W2801479130 cites W2115167726 @default.
• W2801479130 cites W2116382435 @default.
• W2801479130 cites W2116575182 @default.
• W2801479130 cites W2117153870 @default.
• W2801479130 cites W2117673476 @default.
• W2801479130 cites W2119180969 @default.
• W2801479130 cites W2122588714 @default.
• W2801479130 cites W2132123037 @default.
• W2801479130 cites W2139719760 @default.
• W2801479130 cites W2140380015 @default.
• W2801479130 cites W2142127956 @default.
• W2801479130 cites W2142243176 @default.
• W2801479130 cites W2142379908 @default.
• W2801479130 cites W2142563401 @default.
• W2801479130 cites W2144846148 @default.
• W2801479130 cites W2153402070 @default.
• W2801479130 cites W2159675211 @default.
• W2801479130 cites W2167895056 @default.
• W2801479130 cites W2168133698 @default.
• W2801479130 cites W2168270659 @default.
• W2801479130 cites W2169711067 @default.
• W2801479130 cites W2203261478 @default.
• W2801479130 cites W2206815873 @default.
• W2801479130 cites W2292790696 @default.
• W2801479130 cites W2313530450 @default.
• W2801479130 cites W2316077666 @default.
• W2801479130 cites W2381924987 @default.
• W2801479130 cites W2580861314 @default.
• W2801479130 cites W2741734981 @default.
• W2801479130 doi "https://doi.org/10.1172/jci.insight.99922" @default.

• next