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Page 1
Population-Based Study of Rare Coding Variants in NR5A1/SF-1.
Kouri C, Jia RY, Kentistou KA, Gardner EJ, Perry JRB, Flück CE, Ong KK. Kouri C, et al. Among authors: kentistou ka. J Endocr Soc. 2024 Oct 23;8(12):bvae178. doi: 10.1210/jendso/bvae178. eCollection 2024 Oct 29. J Endocr Soc. 2024. PMID: 39479520 Free PMC article.
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: kentistou k. 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.
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Stankovic S, Shekari S, Huang QQ, Gardner EJ, Ivarsdottir EV, Owens NDL, Mavaddat N, Azad A, Hawkes G, Kentistou KA, Beaumont RN, Day FR, Zhao Y, Jonsson H, Rafnar T, Tragante V, Sveinbjornsson G, Oddsson A, Styrkarsdottir U, Gudmundsson J, Stacey SN, Gudbjartsson DF; Breast Cancer Association Consortium; Kennedy K, Wood AR, Weedon MN, Ong KK, Wright CF, Hoffmann ER, Sulem P, Hurles ME, Ruth KS, Martin HC, Stefansson K, Perry JRB, Murray A. Stankovic S, et al. Among authors: kentistou ka. Nature. 2024 Sep;633(8030):608-614. doi: 10.1038/s41586-024-07931-x. Epub 2024 Sep 11. Nature. 2024. PMID: 39261734 Free PMC article.
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Har… See abstract for full author list ➔ Kentistou KA, et al. Nat Genet. 2024 Aug;56(8):1763-1764. doi: 10.1038/s41588-024-01857-w. Nat Genet. 2024. PMID: 38982295 Free PMC article. No abstract available.
Loss of transient receptor potential channel 5 causes obesity and postpartum depression.
Li Y, Cacciottolo TM, Yin N, He Y, Liu H, Liu H, Yang Y, Henning E, Keogh JM, Lawler K, Mendes de Oliveira E, Gardner EJ, Kentistou KA, Laouris P, Bounds R, Ong KK, Perry JRB, Barroso I, Tu L, Bean JC, Yu M, Conde KM, Wang M, Ginnard O, Fang X, Tong L, Han J, Darwich T, Williams KW, Yang Y, Wang C, Joss S, Firth HV, Xu Y, Farooqi IS. Li Y, et al. Among authors: kentistou ka. Cell. 2024 Aug 8;187(16):4176-4192.e17. doi: 10.1016/j.cell.2024.06.001. Epub 2024 Jul 2. Cell. 2024. PMID: 38959890 Free article.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Har… See abstract for full author list ➔ Kentistou KA, et al. Nat Genet. 2024 Jul;56(7):1397-1411. doi: 10.1038/s41588-024-01798-4. Epub 2024 Jul 1. Nat Genet. 2024. PMID: 38951643 Free PMC article.
SMIM1 absence is associated with reduced energy expenditure and excess weight.
Stefanucci L, Moslemi C, Tomé AR, Virtue S, Bidault G, Gleadall NS, Watson LPE, Kwa JE, Burden F, Farrow S; DBDS Genetic Consortium; Chen J; MAGIC; Võsa U, Burling K, Walker L, Ord J, Barker P, Warner J, Frary A, Renhstrom K, Ashford SE, Piper J, Biggs G, Erber WN, Hoffman GJ, Schoenmakers N, Erikstrup C, Rieneck K, Dziegiel MH, Ullum H, Azzu V, Vacca M, Aparicio HJ, Hui Q, Cho K, Sun YV, Wilson PW, Bayraktar OA, Vidal-Puig A, Ostrowski SR, Astle WJ, Olsson ML, Storry JR, Pedersen OB, Ouwehand WH, Chatterjee K, Vuckovic D, Frontini M. Stefanucci L, et al. Med. 2024 Sep 13;5(9):1083-1095.e6. doi: 10.1016/j.medj.2024.05.015. Epub 2024 Jun 20. Med. 2024. PMID: 38906141 Free article.
Genetic drivers and cellular selection of female mosaic X chromosome loss.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ; FinnGen; Estonian Biobank Research Team; Breast Cancer Association Consortium; Million Veteran Program; Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: kentistou ka. Nature. 2024 Jul;631(8019):134-141. doi: 10.1038/s41586-024-07533-7. Epub 2024 Jun 12. Nature. 2024. PMID: 38867047
Maternal obesity increases hypothalamic miR-505-5p expression in mouse offspring leading to altered fatty acid sensing and increased intake of high-fat food.
Dearden L, Furigo IC, Pantaleão LC, Wong LWP, Fernandez-Twinn DS, de Almeida-Faria J, Kentistou KA, Carreira MV, Bidault G, Vidal-Puig A, Ong KK, Perry JRB, Donato J Jr, Ozanne SE. Dearden L, et al. Among authors: kentistou ka. PLoS Biol. 2024 Jun 4;22(6):e3002641. doi: 10.1371/journal.pbio.3002641. eCollection 2024 Jun. PLoS Biol. 2024. PMID: 38833481 Free PMC article.
39 results