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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 3 |
2020 | 2 |
2021 | 1 |
2024 | 0 |
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5 results
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Page 1
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet. 2020 Nov;98(5):507-514. doi: 10.1111/cge.13831. Epub 2020 Sep 4.
Clin Genet. 2020.
PMID: 32799315
Free PMC article.
Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia.
Qanash H, Li Y, Smith RH, Linask K, Young-Baird S, Hakami W, Keyvanfar K, Choy JS, Zou J, Larochelle A.
Qanash H, et al.
Cells. 2021 Mar 26;10(4):734. doi: 10.3390/cells10040734.
Cells. 2021.
PMID: 33810313
Free PMC article.
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Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Young-Baird SK, Lourenço MB, Elder MK, Klann E, Liebau S, Dever TE.
Young-Baird SK, et al.
Mol Cell. 2020 Feb 20;77(4):875-886.e7. doi: 10.1016/j.molcel.2019.11.008. Epub 2019 Dec 10.
Mol Cell. 2020.
PMID: 31836389
Free PMC article.
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MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.
Young-Baird SK, Shin BS, Dever TE.
Young-Baird SK, et al.
Nucleic Acids Res. 2019 Jan 25;47(2):855-867. doi: 10.1093/nar/gky1213.
Nucleic Acids Res. 2019.
PMID: 30517694
Free PMC article.
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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C, Kelberman D, GOSgene, Qasim W, Camper SA, Dever TE, Shah P, Robinson ICAF, Dattani MT.
Gregory LC, et al.
EBioMedicine. 2019 Apr;42:470-480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14.
EBioMedicine. 2019.
PMID: 30878599
Free PMC article.
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