Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s42000-024-00552-z.pdf
Reference9 articles.
1. Skopkova M, Hennig F, Shin B et al (2017) EIF2S3 mutations Associated with severe X-Linked intellectual disability syndrome MEHMO. Hum Mutat 38:409–425. https://doi.org/10.1002/humu.23170
2. Franco ED, Flanagan SE, Houghton JA et al (2015) The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet 386:957–963. https://doi.org/10.1016/s0140-6736(15)60098-8
3. Igoillo-Esteve M, Genin A, Lambert N et al (2013) tRNA methyltransferase Homolog Gene TRMT10A mutation in Young Onset Diabetes and primary microcephaly in humans. PLoS Genet 9:e1003888. https://doi.org/10.1371/journal.pgen.1003888
4. Cnop M, Toivonen S, Igoillo-Esteve M et al (2017) Endoplasmic reticulum stress and eIF2α phosphorylation: the Achilles heel of pancreatic β cells. Mol Metab 6:1024–1039. https://doi.org/10.1016/j.molmet.2017.06.001
5. Nakagawa H, Hazama K, Ishida K et al (2017) Inhibition of PLD1 activity causes ER stress via regulation of COPII vesicle formation. Biochem Biophys Res Commun 490:895–900. https://doi.org/10.1016/j.bbrc.2017.06.137
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