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Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ. van Haaften-Visser DY, et al. Among authors: fiedler k. J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302725 Free PMC article.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
Parlato M, Charbit-Henrion F, Pan J, Romano C, Duclaux-Loras R, Le Du MH, Warner N, Francalanci P, Bruneau J, Bras M, Zarhrate M, Bègue B, Guegan N, Rakotobe S, Kapel N, De Angelis P, Griffiths AM, Fiedler K, Crowley E, Ruemmele F, Muise AM, Cerf-Bensussan N. Parlato M, et al. Among authors: fiedler k. EMBO Mol Med. 2018 Apr;10(4):e8483. doi: 10.15252/emmm.201708483. EMBO Mol Med. 2018. PMID: 29567797 Free PMC article.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ; WGS500 Consortium; Oxford IBD cohort study investigators; COLORS in IBD group investigators; UK IBD Genetics Consortium, Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J; INTERVAL Study, Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH. Schwerd T, et al. Among authors: fiedler k. Mucosal Immunol. 2018 Mar;11(2):562-574. doi: 10.1038/mi.2017.74. Epub 2017 Nov 1. Mucosal Immunol. 2018. PMID: 29091079 Free PMC article.
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