Citations for
1PCH11, TBC1D23
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG.
Am J Hum Genet 101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. 2017
2PCH11, TBC1D23
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J.
Am J Hum Genet 101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17. 2017
3TBC1D23
Identifying novel spatiotemporal regulators of innate immunity.
Victorino F, Alper S.
Immunol Res 55(1-3):3-9. doi: 10.1007/s12026-012-8344-0. Review. 2013
4MYD88, TBC1D23, TICAM2, XBP1
Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP.
De Arras L, Yang IV, Lackford B, Riches DW, Prekeris R, Freedman JH, Schwartz DA, Alper S.
J Immunol 188(6):2905-13. doi: 10.4049/jimmunol.1102595. Epub 2012 Feb 6. 2012