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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38815585
MSL2 ensures biallelic gene expression in mammals.
Sun Y, Wiese M, Hmadi R, Karayol R, Seyfferth J, Martinez Greene JA, Erdogdu NU, Deboutte W, Arrigoni L, Holz H, Renschler G, Hirsch N, Foertsch A, Basilicata MF, Stehle T, Shvedunova M, Bella C, Pessoa Rodrigues C, Schwalb B, Cramer P, Manke T, Akhtar A.
Sun Y, et al. Among authors: karayol r.
Nature. 2023 Dec;624(7990):173-181. doi: 10.1038/s41586-023-06781-3. Epub 2023 Nov 29.
Nature. 2023.
PMID: 38030723
Free PMC article.
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Serotonin receptor 4 in the hippocampus modulates mood and anxiety.
Karayol R, Medrihan L, Warner-Schmidt JL, Fait BW, Rao MN, Holzner EB, Greengard P, Heintz N, Schmidt EF.
Karayol R, et al.
Mol Psychiatry. 2021 Jun;26(6):2334-2349. doi: 10.1038/s41380-020-00994-y. Epub 2021 Jan 13.
Mol Psychiatry. 2021.
PMID: 33441982
Free PMC article.
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