An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

https://pubmed.ncbi.nlm.nih.gov/33141462/ J Neurosci Res. 2021 Jan;99(1):110-123. doi: 10.1002/jnr.24747. Epub 2020 Nov 3. Lucie Y Ahn 1 2, Giuliana C Coatti 1, Jingyi Liu 3, Evren Gumus 4 5, Ashleigh E Schaffer 1 6, Helen C Miranda 1 7Affiliations expand PMID: 33141462 PMCID: PMC7756336 DOI: 10.1002/jnr.24747 Abstract ACTL6B is a component of the neuronal BRG1/brm-associated factor (nBAF) complex, which is required for chromatin remodeling in postmitotic neurons. We recently reported biallelic pathogenic variants in ACTL6B …

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Primary human colonic mucosal barrier crosstalk with super oxygen-sensitive Faecalibacterium prausnitzii in continuous culture

Med (N Y). 2021 Jan 15;2(1):74-98.e9. doi: 10.1016/j.medj.2020.07.001. Epub 2020 Aug 6. Jianbo Zhang 1, Yu-Ja Huang 1, Jun Young Yoon 2 3, John Kemmitt 1, Charles Wright 1, Kirsten Schneider 1, Pierre Sphabmixay 1, Victor Hernandez-Gordillo 1, Steven J Holcomb 1, Brij Bhushan 2, Gar Rohatgi 4, Kyle Benton 4, David Carpenter 4, Jemila C Kester 1, George Eng 1, David T Breault 5, Omer Yilmaz 1, Mao Taketani 1, Christopher A Voigt 1, Rebecca L Carrier 6, David L Trumper 2, Linda G Griffith 1 2 7 PMID: 33511375 PMCID: PMC7839961 DOI: 10.1016/j.medj.2020.07.001 Abstract Background: The gut microbiome plays an important role in …

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