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CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene.
Sadeghi H, Esmkhani S, Pirjani R, Amin-Beidokhti M, Gholami M, Azizi Tabesh G, Ghasemi MR, Gachkar L, Mirfakhraie R. Sadeghi H, et al. Among authors: esmkhani s. Mol Biol Rep. 2021 Mar;48(3):2117-2122. doi: 10.1007/s11033-021-06215-1. Epub 2021 Feb 24. Mol Biol Rep. 2021. PMID: 33625689
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Calame DG, et al. Among authors: esmkhani s. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12. Genet Med. 2021. PMID: 34385670 Free PMC article.