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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
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.
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.
Diabetes. 2023 Nov 1;72(11):1729-1734. doi: 10.2337/db23-0498.
Diabetes. 2023.
PMID: 37639628
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A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly.
De Franco E, Wakeling MN, Frew RD, Russ-Silsby J, Peters C, Marks SD, Hattersley AT, Flanagan SE.
De Franco E, et al. Among authors: russ silsby j.
Clin Genet. 2022 Nov;102(5):457-458. doi: 10.1111/cge.14187. Epub 2022 Jul 18.
Clin Genet. 2022.
PMID: 35856135
Free PMC article.
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