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Page 1
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: perry jrb. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation.
Leeson-Payne A, Iyinikkel J, Malcolm C, Lam BYH, Sommer N, Dowsett GKC, Martinez de Morentin PB, Thompson D, Mackenzie A, Chianese R, Kentistou K, Gardner EJ, Perry JRB, Grassmann F, Speakman JR, Rochford JJ, Yeo GSH, Murray F, Heisler LK. Leeson-Payne A, et al. Among authors: perry jrb. Cell Metab. 2024 May 7;36(5):1076-1087.e4. doi: 10.1016/j.cmet.2024.03.016. Epub 2024 Apr 22. Cell Metab. 2024. PMID: 38653246
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Kentistou KA, Lim BEM, Kaisinger LR, Steinthorsdottir V, Sharp LN, Patel KA, Tragante V, Hawkes G, Gardner EJ, Olafsdottir T, Wood AR, Zhao Y, Thorleifsson G, Day FR, Ozanne SE, Hattersley AT, O'Rahilly S, Stefansson K, Ong KK, Beaumont RN, Perry JRB, Freathy RM. Kentistou KA, et al. Among authors: perry jrb. medRxiv [Preprint]. 2024 Apr 3:2024.04.03.24305248. doi: 10.1101/2024.04.03.24305248. medRxiv. 2024. PMID: 38633783 Free PMC article. Preprint.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: perry jrb. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.
Burns K, Mullin BH, Moolhuijsen LME, Laisk T, Tyrmi JS, Cui J, Actkins KV, Louwers YV; Estonian Biobank Research Team; Davis LK, Dudbridge F, Azziz R, Goodarzi MO, Laivuori H, Mägi R, Visser JA, Laven JSE, Wilson SG; FinnGen; International PCOS Consortium; Day FR, Stuckey BGA. Burns K, et al. BMC Genomics. 2024 Feb 26;25(1):208. doi: 10.1186/s12864-024-09990-w. BMC Genomics. 2024. PMID: 38408933 Free PMC article.
Genetic determinants of micronucleus formation in vivo.
Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA; Sanger Mouse Genetics Project; Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, Del Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Coelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP, Balmus G. Adams DJ, et al. Among authors: perry jrb. Nature. 2024 Mar;627(8002):130-136. doi: 10.1038/s41586-023-07009-0. Epub 2024 Feb 14. Nature. 2024. PMID: 38355793 Free PMC article.
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes.
Bradfield JP, Kember RL, Ulrich A, Balkiyarova Z, Alyass A, Aris IM, Bell JA, Broadaway KA, Chen Z, Chai JF, Davies NM, Fernandez-Orth D, Bustamante M, Fore R, Ganguli A, Heiskala A, Hottenga JJ, Íñiguez C, Kobes S, Leinonen J, Lowry E, Lyytikainen LP, Mahajan A, Pitkänen N, Schnurr TM, Have CT, Strachan DP, Thiering E, Vogelezang S, Wade KH, Wang CA, Wong A, Holm LA, Chesi A, Choong C, Cruz M, Elliott P, Franks S, Frithioff-Bøjsøe C, Gauderman WJ, Glessner JT, Gilsanz V, Griesman K, Hanson RL, Kaakinen M, Kalkwarf H, Kelly A, Kindler J, Kähönen M, Lanca C, Lappe J, Lee NR, McCormack S, Mentch FD, Mitchell JA, Mononen N, Niinikoski H, Oken E, Pahkala K, Sim X, Teo YY, Baier LJ, van Beijsterveldt T, Adair LS, Boomsma DI, de Geus E, Guxens M, Eriksson JG, Felix JF, Gilliland FD, Biobank PM, Hansen T, Hardy R, Hivert MF, Holm JC, Jaddoe VWV, Järvelin MR, Lehtimäki T, Mackey DA, Meyre D, Mohlke KL, Mykkänen J, Oberfield S, Pennell CE, Perry JRB, Raitakari O, Rivadeneira F, Saw SM, Sebert S, Shepherd JA, Standl M, Sørensen TIA, Timpson NJ, Torrent M, Willemsen G, Hypponen E, Power C; Early Growth Genetics Consortium; McCarthy MI, Freathy RM, Widén E, Hakonarson H, Prokopenko I, … See abstract for full author list ➔ Bradfield JP, et al. Among authors: perry jrb. Genome Biol. 2024 Jan 16;25(1):22. doi: 10.1186/s13059-023-03136-z. Genome Biol. 2024. PMID: 38229171 Free PMC article.
241 results