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Page 1
Alzheimer's disease-related presenilins are key to intestinal epithelial cell function and gut immune homoeostasis.
Erkert L, Gamez-Belmonte R, Kabisch M, Schödel L, Patankar JV, Gonzalez-Acera M, Mahapatro M, Bao LL, Plattner C, Kühl AA, Shen J, Serneels L, De Strooper B; TRR241 IBDome Consortium; Neurath MF, Wirtz S, Becker C. Erkert L, et al. Gut. 2024 Apr 29:gutjnl-2023-331622. doi: 10.1136/gutjnl-2023-331622. Online ahead of print. Gut. 2024. PMID: 38684238
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Among authors: koop k. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299
ATP citrate lyase (ACLY)-dependent immunometabolism in mucosal T cells drives experimental colitis in vivo.
Schulz-Kuhnt A, Rühle K, Javidmehr A, Döbrönti M, Biwank J, Knittel S, Neidlinger P, Leupold J, Liu LJ, Dedden M, Taudte RV, Gessner A, Fromm MF, Mielenz D, Kreiss L, Waldner MJ, Schürmann S, Friedrich O, Dietel B, López-Posadas R, Plattner C; TRR241 IBDome Consortium; Zundler S, Becker C, Atreya R, Neurath MF, Atreya I. Schulz-Kuhnt A, et al. Gut. 2024 Mar 7;73(4):601-612. doi: 10.1136/gutjnl-2023-330543. Gut. 2024. PMID: 38176897
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: koop k. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Heterogeneity of tertiary lymphoid structures in cancer.
You X, Koop K, Weigert A. You X, et al. Among authors: koop k. Front Immunol. 2023 Dec 4;14:1286850. doi: 10.3389/fimmu.2023.1286850. eCollection 2023. Front Immunol. 2023. PMID: 38111571 Free PMC article. Review.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Veldman A, Kiewiet MBG, Westra D, Bosch AM, Brands MMG, de Coo RIFM, Derks TGJ, Fuchs SA, van den Hout JMP, Huidekoper HH, Kluijtmans LAJ, Koop K, Lubout CMA, Mulder MF, Panis B, Rubio-Gozalbo ME, de Sain-van der Velden MG, Schaefers J, Schreuder AB, Visser G, Wevers RA, Wijburg FA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: koop k. Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056. Int J Neonatal Screen. 2023. PMID: 37873847 Free PMC article.
p21 Prevents the Exhaustion of CD4+ T Cells Within the Antitumor Immune Response Against Colorectal Cancer.
Thoma OM, Naschberger E, Kubánková M, Larafa I, Kramer V, Menchicchi B, Merkel S, Britzen-Laurent N, Jefremow A, Grützmann R, Koop K, Neufert C, Atreya R, Guck J, Stürzl M, Neurath MF, Waldner MJ. Thoma OM, et al. Among authors: koop k. Gastroenterology. 2024 Feb;166(2):284-297.e11. doi: 10.1053/j.gastro.2023.09.017. Epub 2023 Sep 19. Gastroenterology. 2024. PMID: 37734420 Free article.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D; Québec NTBC Study Group; Boelen A, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: koop k. J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. doi: 10.1002/jimd.12669. Epub 2023 Aug 10. J Inherit Metab Dis. 2023. PMID: 37545091
54 results