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KAT2A and KAT2B prevent double-stranded RNA accumulation and interferon signaling to maintain intestinal stem cell renewal.
Nguyen MU, Iqbal J, Potgieter S, Huang W, Pfeffer J, Woo S, Zhao C, Lawlor M, Yang R, Rizly R, Halstead A, Dent S, Sáenz JB, Zheng H, Yuan ZF, Sidoli S, Ellison CE, P Verzi M. Nguyen MU, et al. Among authors: potgieter s. Sci Adv. 2024 Aug 9;10(32):eadl1584. doi: 10.1126/sciadv.adl1584. Epub 2024 Aug 7. Sci Adv. 2024. PMID: 39110797 Free PMC article.
KAT2 paralogs prevent dsRNA accumulation and interferon signaling to maintain intestinal stem cells.
Nguyen MU, Potgieter S, Huang W, Pfeffer J, Woo S, Zhao C, Lawlor M, Yang R, Halstead A, Dent S, Sáenz JB, Zheng H, Yuan ZF, Sidoli S, Ellison CE, Verzi M. Nguyen MU, et al. Among authors: potgieter s. bioRxiv [Preprint]. 2023 Sep 5:2023.09.04.556156. doi: 10.1101/2023.09.04.556156. bioRxiv. 2023. Update in: Sci Adv. 2024 Aug 9;10(32):eadl1584. doi: 10.1126/sciadv.adl1584 PMID: 37732252 Free PMC article. Updated. Preprint.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study.
Schlapbach LJ, Ganesamoorthy D, Wilson C, Raman S, George S, Snelling PJ, Phillips N, Irwin A, Sharp N, Le Marsney R, Chavan A, Hempenstall A, Bialasiewicz S, MacDonald AD, Grimwood K, Kling JC, McPherson SJ, Blumenthal A, Kaforou M, Levin M, Herberg JA, Gibbons KS, Coin LJM; EUCLIDS consortium; RAPIDS Study Group. Schlapbach LJ, et al. Lancet Child Adolesc Health. 2024 May;8(5):325-338. doi: 10.1016/S2352-4642(24)00017-8. Epub 2024 Mar 19. Lancet Child Adolesc Health. 2024. PMID: 38513681 Free article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: potgieter st. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
68 results