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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Among authors: fehr s. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: fehr s. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.
Emami Riedmaier A, Burk O, van Eijck BA, Schaeffeler E, Klein K, Fehr S, Biskup S, Müller S, Winter S, Zanger UM, Schwab M, Nies AT. Emami Riedmaier A, et al. Among authors: fehr s. Pharmacogenomics J. 2016 Aug;16(4):341-51. doi: 10.1038/tpj.2015.55. Epub 2015 Aug 4. Pharmacogenomics J. 2016. PMID: 26239079
Selective p38α MAP kinase/MAPK14 inhibition in enzymatically modified LDL-stimulated human monocytes: implications for atherosclerosis.
Cheng F, Twardowski L, Fehr S, Aner C, Schaeffeler E, Joos T, Knorpp T, Dorweiler B, Laufer S, Schwab M, Torzewski M. Cheng F, et al. Among authors: fehr s. FASEB J. 2017 Feb;31(2):674-686. doi: 10.1096/fj.201600669R. Epub 2016 Nov 8. FASEB J. 2017. PMID: 27871059
Inhibition of a key signaling molecule of the p38 MAPK pathway, p38alpha MAPK/MAPK14, by selective inhibitors like skepinone-L, conclusively facilitates elucidation of the impact of the complex network of p38 MAPK signaling on atherogenesis and might provide a promising therapeut …
Inhibition of a key signaling molecule of the p38 MAPK pathway, p38alpha MAPK/MAPK14, by selective inhibitors like skepinone-L, conclusively …
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Among authors: fehr s. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Fehr S, Biskup S, Haack TB, Stöbe P, Heyd A, Harre J, Lesinski-Schiedat A, Büchner A, Lenarz T, Warnecke A, Müller M, Vona B, Dahlhoff E, Löwenheim H, Holderried M. Tropitzsch A, et al. Among authors: fehr s. Ear Hear. 2023 Nov-Dec 01;44(6):1464-1484. doi: 10.1097/AUD.0000000000001386. Epub 2023 Jul 13. Ear Hear. 2023. PMID: 37438890 Free PMC article.
89 results