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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Muir AM, et al. Among authors: lo ty. Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. Am J Hum Genet. 2020. PMID: 32275884 Free PMC article.
The Mechanosensitive Ion Channel Piezo Inhibits Axon Regeneration.
Song Y, Li D, Farrelly O, Miles L, Li F, Kim SE, Lo TY, Wang F, Li T, Thompson-Peer KL, Gong J, Murthy SE, Coste B, Yakubovich N, Patapoutian A, Xiang Y, Rompolas P, Jan LY, Jan YN. Song Y, et al. Among authors: lo ty. Neuron. 2019 Apr 17;102(2):373-389.e6. doi: 10.1016/j.neuron.2019.01.050. Epub 2019 Feb 25. Neuron. 2019. PMID: 30819546 Free PMC article.
87 results