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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: taylor h. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
The Role of PTEN in Innate and Adaptive Immunity.
Taylor H, Laurence ADJ, Uhlig HH. Taylor H, et al. Cold Spring Harb Perspect Med. 2019 Dec 2;9(12):a036996. doi: 10.1101/cshperspect.a036996. Cold Spring Harb Perspect Med. 2019. PMID: 31501268 Free PMC article. Review.
Biallelic TLR4 deficiency in humans.
Capitani M, Al-Shaibi AA, Pandey S, Gartner L, Taylor H, Hubrack SZ, Agrebi N, Al-Mohannadi MJ, Al Kaabi S, Vogl T, Roth J, Kotlarz D, Klein C, Charles AK, Vijayakumar V, Karim MY, George B, Travis SP, Elawad M, Lo B, Uhlig HH. Capitani M, et al. Among authors: taylor h. J Allergy Clin Immunol. 2023 Mar;151(3):783-790.e5. doi: 10.1016/j.jaci.2022.08.030. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462956 Free article.
mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Taylor H, Yerlioglu D, Phen C, Ballauff A, Nedelkopoulou N, Spier I, Loverdos I, Busoni VB, Heise J, Dale P, de Meij T, Sweet K, Cohen MC, Fox VL, Mas E, Aretz S, Eng C, Buderus S, Thomson M, Rojas I, Uhlig HH. Taylor H, et al. Hum Mol Genet. 2021 Jun 26;30(14):1273-1282. doi: 10.1093/hmg/ddab094. Hum Mol Genet. 2021. PMID: 33822054 Free PMC article.
A contact binary satellite of the asteroid (152830) Dinkinesh.
Levison HF, Marchi S, Noll KS, Spencer JR, Statler TS, Bell JF 3rd, Bierhaus EB, Binzel R, Bottke WF, Britt D, Brown ME, Buie MW, Christensen PR, Dello Russo N, Emery JP, Grundy WM, Hahn M, Hamilton VE, Howett C, Kaplan H, Kretke K, Lauer TR, Manzoni C, Marschall R, Martin AC, May BH, Mottola S, Olkin CB, Pätzold M, Parker JW, Porter S, Preusker F, Protopapa S, Reuter DC, Robbins SJ, Salmon J, Simon AA, Stern SA, Sunshine JM, Wong I, Weaver HA, Adam C, Ancheta S, Andrews J, Anwar S, Barnouin OS, Beasley M, Berry KE, Birath E, Bolin B, Booco M, Burns R, Campbell P, Carpenter R, Crombie K, Effertz M, Eifert E, Ellis C, Faiks P, Fischetti J, Fleming P, Francis K, Franco R, Freund S, Gallagher C, Geeraert J, Gobat C, Gorgas D, Granat C, Gray S, Haas P, Harch A, Hegedus K, Isabelle C, Jackson B, Jacob T, Jennings S, Kaufmann D, Keeney BA, Kennedy T, Lauffer K, Lessac-Chenen E, Leonard R, Levine A, Lunsford A, Martin T, McAdams J, Mehall G, Merkley T, Miller G, Montanaro M, Montgomery A, Murphy G, Myers M, Nelson DS, Ocampo A, Olds R, Pelgrift JY, Perkins T, Pineau J, Poland D, Ramanan V, Rose D, Sahr E, Short O, Solanki I, Stanbridge D, Sutter B, Talpas Z, Taylor H, Treiu B, Ver… See abstract for full author list ➔ Levison HF, et al. Among authors: taylor h. Nature. 2024 May;629(8014):1015-1020. doi: 10.1038/s41586-024-07378-0. Epub 2024 May 29. Nature. 2024. PMID: 38811709 Free PMC article.
Recruitment of CTCF to the SIRT1 promoter after Oxidative Stress mediates Cardioprotective Transcription.
Wagner T, Priyanka P, Micheletti R, Friedman MJ, Nair SJ, Gamliel A, Taylor H, Song X, Cho M, Oh S, Li W, Han J, Ohgi KA, Abrass M, D'Antonio-Chronowska A, D'Antonio M, Hazuda H, Duggirala R, Blangero J, Ding S, Guzmann C, Frazer KA, Aggarwal AK, Zemljic-Harpf AE, Rosenfeld MG, Suh Y. Wagner T, et al. Among authors: taylor h. bioRxiv [Preprint]. 2024 May 22:2024.05.17.594600. doi: 10.1101/2024.05.17.594600. bioRxiv. 2024. PMID: 38798402 Free PMC article. Preprint.
4,234 results