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Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kizlitug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. DeSpenza T Jr, et al. Among authors: zhao s. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25. Proc Natl Acad Sci U S A. 2024. PMID: 38916997
SLC44A2 regulates vascular smooth muscle cell phenotypic switching and aortic aneurysm.
Song T, Zhao S, Luo S, Chen C, Liu X, Wu X, Sun Z, Cao J, Wang Z, Wang Y, Yu B, Zhang Z, Du X, Li X, Han Z, Chen H, Chen F, Wang L, Wang H, Sun K, Han Y, Xie L, Ji Y. Song T, et al. Among authors: zhao s. J Clin Invest. 2024 Jun 25:e173690. doi: 10.1172/JCI173690. Online ahead of print. J Clin Invest. 2024. PMID: 38916960
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