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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA. Johnson MB, et al. J Exp Med. 2024 Jun 3;221(6):e20231704. doi: 10.1084/jem.20231704. Epub 2024 Apr 18. J Exp Med. 2024. PMID: 38634869 Free PMC article.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. Laver TW, et al. Among authors: weedon mn. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01593-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605124
Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, Ferrat L, Mirshahi UL, Rao HS, Petzold A, Tyrrell J, Green HD, Weedon MN, Ganna A, Tuomi T, Carey DJ; UKBB Eye & Vision Consortium; FinnGen; Geisinger-Regeneron DiscovEHR Collaboration; Oram RA, Braithwaite T. Loginovic P, et al. Among authors: weedon mn. Nat Commun. 2024 Feb 28;15(1):1415. doi: 10.1038/s41467-024-44917-9. Nat Commun. 2024. PMID: 38418465 Free PMC article.
Genome-wide association analysis of composite sleep health scores in 413,904 individuals.
Goodman MO, Faquih T, Paz V, Nagarajan P, Lane JM, Spitzer B, Maher M, Chung J, Cade BE, Purcell SM, Zhu X, Noordam R, Phillips AJK, Kyle SD, Spiegelhalder K, Weedon MN, Lawlor DA, Rotter JI, Taylor KD, Isasi CR, Sofer T, Dashti HS, Rutter MK, Redline S, Saxena R, Wang H. Goodman MO, et al. Among authors: weedon mn. medRxiv [Preprint]. 2024 Feb 3:2024.02.02.24302211. doi: 10.1101/2024.02.02.24302211. medRxiv. 2024. PMID: 38352337 Free PMC article. Preprint.
Hyperglycaemia is a causal risk factor for upper limb pathologies.
Green HD, Burden E, Chen J, Evans J, Patel K, Wood AR, Beaumont RN, Tyrrell J, Frayling TM, Hattersley AT, Oram RA, Bowden J, Barroso I, Smith C, Weedon MN. Green HD, et al. Among authors: weedon mn. Int J Epidemiol. 2024 Feb 1;53(1):dyad187. doi: 10.1093/ije/dyad187. Int J Epidemiol. 2024. PMID: 38205890 Free PMC article.
Correlations in sleeping patterns and circadian preference between spouses.
Richmond RC, Howe LJ, Heilbron K, Jones S, Liu J; 23andMe Research Team; Wang X, Weedon MN, Rutter MK, Lawlor DA, Davey Smith G, Vetter C. Richmond RC, et al. Among authors: weedon mn. Commun Biol. 2023 Nov 13;6(1):1156. doi: 10.1038/s42003-023-05521-7. Commun Biol. 2023. PMID: 37957254 Free PMC article.
287 results