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EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: dever te. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
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. Among authors: dever te. 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.
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. Among authors: dever te. 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.
124 results