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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: gosswein s. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Neutrophils prevent rectal bleeding in ulcerative colitis by peptidyl-arginine deiminase-4-dependent immunothrombosis.
Leppkes M, Lindemann A, Gößwein S, Paulus S, Roth D, Hartung A, Liebing E, Zundler S, Gonzalez-Acera M, Patankar JV, Mascia F, Scheibe K, Hoffmann M, Uderhardt S, Schauer C, Foersch S, Neufert C, Vieth M, Schett G, Atreya R, Kühl AA, Bleich A, Becker C, Herrmann M, Neurath MF. Leppkes M, et al. Among authors: gosswein s. Gut. 2022 Dec;71(12):2414-2429. doi: 10.1136/gutjnl-2021-324725. Epub 2021 Dec 3. Gut. 2022. PMID: 34862250 Free PMC article.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Burns W, et al. Among authors: gosswein s. Am J Med Genet A. 2021 Oct;185(10):2863-2872. doi: 10.1002/ajmg.a.62359. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050707
Ménage-à-Trois: The Ratio of Bicarbonate to CO2 and the pH Regulate the Capacity of Neutrophils to Form NETs.
Maueröder C, Mahajan A, Paulus S, Gößwein S, Hahn J, Kienhöfer D, Biermann MH, Tripal P, Friedrich RP, Munoz LE, Neurath MF, Becker C, Schett GA, Herrmann M, Leppkes M. Maueröder C, et al. Among authors: gosswein s. Front Immunol. 2016 Dec 9;7:583. doi: 10.3389/fimmu.2016.00583. eCollection 2016. Front Immunol. 2016. PMID: 28018350 Free PMC article.