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Page 1
Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.
Lockhart SM, Muso M, Zvetkova I, Lam BYH, Ferrari A, Schoenmakers E, Duckett K, Leslie J, Collins A, Romartínez-Alonso B, Tadross JA, Jia R, Gardner EJ, Kentistou K, Zhao Y, Day F, Mörseburg A, Rainbow K, Rimmington D, Mastantuoni M, Harrison J, Nus M, Guma'a K, Sherratt-Mayhew S, Jiang X, Smith KR, Paul DS, Jenkins B, Koulman A, Pietzner M, Langenberg C, Wareham N, Yeo GS, Chatterjee K, Schwabe J, Oakley F, Mann DA, Tontonoz P, Coll AP, Ong K, Perry JRB, O'Rahilly S. Lockhart SM, et al. Among authors: leslie j. Nat Metab. 2024 Oct;6(10):1922-1938. doi: 10.1038/s42255-024-01126-4. Epub 2024 Sep 25. Nat Metab. 2024. PMID: 39322746 Free PMC article.
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Hashem AMA, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. Rawlins LE, et al. Among authors: leslie js. Genet Med. 2024 Sep 20:101278. doi: 10.1016/j.gim.2024.101278. Online ahead of print. Genet Med. 2024. PMID: 39315527 Free article.
Scientific Business Abstracts.
Cooles F, Vidal-Pedrola G, Naamane N, Pratt A, Barron-Millar B, Anderson A, Hilkens C, Casement J, Bondet V, Duffy D, Zhang F, Shukla R, Isaacs J, Little M, Payne M, Coupe N, Fairfax B, Taylor CA, Mackay S, Milotay G, Bos S, Hunter B, Mcdonald D, Merces G, Sheldon G, Pradère P, Majo J, Pulle J, Vanstapel A, Vanaudenaerde BM, Vos R, Filby AJ, Fisher AJ, Collier J, Lambton J, Suomi F, Prigent M, Guissart C, Erskine D, Rozanska A, Mccorvie T, Trimouille A, Imam A, Hobson E, Mccullagh H, Frengen E, Misceo D, Bjerre A, Smeland M, Klingenberg C, Alkuraya F, Mcfarland R, Alston C, Yue W, Legouis R, Koenig M, Lako M, Mcwilliams T, Oláhová M, Taylor R, Newman W, Harkness R, McDermott J, Metcalfe K, Khan N, Macken W, Pitceathly R, Record C, Maroofian R, Sabir A, Santra S, Urquhart J, Demain L, Byers H, Beaman G, Yue W, Taylor R, Durmusalioglu E, Atik T, Isik E, Cogulu O, Reunert J, Marquardt T, Ryba L, Buchert-Lo R, Haack T, Lassuthova P, Polavarapu K, Lochmuller H, Horvath R, Jamieson P, Reilly M, O'Keefe R, Boggan R, Ng YS, Franklin I, Alston C, Blakely E, Büchner B, Bugiardini E, Colclough K, Feeney C, Hanna M, Hattersley A, Klopstock T, Kornblum C, Mancuso M, Patel K, Pitceathly R, Pizz… See abstract for full author list ➔ Cooles F, et al. Among authors: leslie j. QJM. 2024 Sep 19:hcae157. doi: 10.1093/qjmed/hcae157. Online ahead of print. QJM. 2024. PMID: 39298287 No abstract available.
605 results