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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: rauh m. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
Arginase impedes the resolution of colitis by altering the microbiome and metabolome.
Baier J, Gänsbauer M, Giessler C, Arnold H, Muske M, Schleicher U, Lukassen S, Ekici A, Rauh M, Daniel C, Hartmann A, Schmid B, Tripal P, Dettmer K, Oefner PJ, Atreya R, Wirtz S, Bogdan C, Mattner J. Baier J, et al. Among authors: rauh m. J Clin Invest. 2020 Nov 2;130(11):5703-5720. doi: 10.1172/JCI126923. J Clin Invest. 2020. PMID: 32721946 Free PMC article.
Pulmonary Dysfunction after Pediatric COVID-19.
Heiss R, Tan L, Schmidt S, Regensburger AP, Ewert F, Mammadova D, Buehler A, Vogel-Claussen J, Voskrebenzev A, Rauh M, Rompel O, Nagel AM, Lévy S, Bickelhaupt S, May MS, Uder M, Metzler M, Trollmann R, Woelfle J, Wagner AL, Knieling F. Heiss R, et al. Among authors: rauh m. Radiology. 2023 Mar;306(3):e221250. doi: 10.1148/radiol.221250. Epub 2022 Sep 20. Radiology. 2023. PMID: 36125379 Free PMC article. Clinical Trial.
446 results