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A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
Phan BN, Bohlen JF, Davis BA, Ye Z, Chen HY, Mayfield B, Sripathy SR, Cerceo Page S, Campbell MN, Smith HL, Gallop D, Kim H, Thaxton CL, Simon JM, Burke EE, Shin JH, Kennedy AJ, Sweatt JD, Philpot BD, Jaffe AE, Maher BJ. Phan BN, et al. Among authors: bohlen jf. Nat Neurosci. 2020 Mar;23(3):375-385. doi: 10.1038/s41593-019-0578-x. Epub 2020 Feb 3. Nat Neurosci. 2020. PMID: 32015540 Free PMC article.
TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. Among authors: bohlen jf. Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021. Epub 2023 Aug 10. Biol Psychiatry. 2024. PMID: 37573005
TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons.
Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, Sripathy SR, Wang Y, Martin JM, Shim G, Panchwagh NM, Moses RL, Farinelli F, Bohlen JF, Li M, Luikart BW, Jaffe AE, Maher BJ. Davis BA, et al. Among authors: bohlen jf. bioRxiv [Preprint]. 2023 Jan 20:2023.01.19.524788. doi: 10.1101/2023.01.19.524788. bioRxiv. 2023. Update in: Biol Psychiatry. 2024 Apr 1;95(7):662-675. doi: 10.1016/j.biopsych.2023.07.021 PMID: 36712024 Free PMC article. Updated. Preprint.
11 results