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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.
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, Dobbs R; EXE-T1D Consortium; Ellard S, Flanagan SE, Hattersley AT, Oram RA. Johnson MB, et al. Diabetologia. 2020 Dec;63(12):2605-2615. doi: 10.1007/s00125-020-05276-4. Epub 2020 Oct 8. Diabetologia. 2020. PMID: 33029656 Free PMC article.
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M; EXE-T1D Consortium; De Franco E, Ellard S, Flanagan SE, Hattersley AT, Oram RA, Johnson MB. Wyatt RC, et al. Among authors: johnson mb. Diabetologia. 2022 Jul;65(7):1179-1184. doi: 10.1007/s00125-022-05697-3. Epub 2022 Apr 30. Diabetologia. 2022. PMID: 35501400 Free PMC article.
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Johnson MB, et al. Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Diabetes. 2017. PMID: 28473463 Free PMC article.
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.
Russ-Silsby J, Patel KA, Laver TW, Hawkes G, Johnson MB, Wakeling MN, Patil PP, Hattersley AT, Flanagan SE, Weedon MN, De Franco E. Russ-Silsby J, et al. Among authors: johnson mb. Diabetes. 2023 Nov 1;72(11):1729-1734. doi: 10.2337/db23-0498. Diabetes. 2023. PMID: 37639628
Monogenic autoimmune diseases of the endocrine system.
Johnson MB, Hattersley AT, Flanagan SE. Johnson MB, et al. Lancet Diabetes Endocrinol. 2016 Oct;4(10):862-72. doi: 10.1016/S2213-8587(16)30095-X. Epub 2016 Jul 26. Lancet Diabetes Endocrinol. 2016. PMID: 27474216 Review.
SavvyCNV: Genome-wide CNV calling from off-target reads.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN. Laver TW, et al. Among authors: johnson mb. PLoS Comput Biol. 2022 Mar 16;18(3):e1009940. doi: 10.1371/journal.pcbi.1009940. eCollection 2022 Mar. PLoS Comput Biol. 2022. PMID: 35294448 Free PMC article.
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El-Khateeb M, Ellard S, Flanagan SE, Ron D, Hattersley AT. De Franco E, et al. Among authors: johnson mb. Diabetes. 2020 Mar;69(3):477-483. doi: 10.2337/db19-1029. Epub 2019 Dec 27. Diabetes. 2020. PMID: 31882561 Free PMC article.
365 results