PMC Links for Gene (Select 304019) - PMC

Select item 55909491.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

Am J Hum Genet. 2017 Sep 7; 101(3): 441–450. Published online 2017 Aug 17. doi: 10.1016/j.ajhg.2017.07.015

PMCID:: PMC5590949

Abstract Article PDF–2.5M

Select item 55908422.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Ekaterina L. Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, Kimia Kahrizi, Vincent Laugel, Elise Schaefer, Anne de Saint Martin, Karen Runge, Zafar Iqbal, Marie-Aude Spitz, Mary Laura, Nathalie Drouot, Bénédicte Gérard, Jean-François Deleuze, Arjan P.M. de Brouwer, Attia Razzaq, Hélène Dollfus, Muhammad Zaman Assir, Patrick Nitchké, Maria-Victoria Hinckelmann, Hilger Ropers, Sheikh Riazuddin, Hossein Najmabadi, Hans van Bokhoven, Jamel Chelly

Am J Hum Genet. 2017 Sep 7; 101(3): 428–440. Published online 2017 Aug 17. doi: 10.1016/j.ajhg.2017.07.010

PMCID:: PMC5590842

Abstract Article PDF–2.6M

Select item 32939453.

SPATIOTEMPORAL INHIBITION OF INNATE IMMUNITY SIGNALING BY THE TBC1D23 RAB-GAP

Lesly De Arras, Ivana V. Yang, Brad Lackford, David W. H. Riches, Rytis Prekeris, Jonathan H. Freedman, David A. Schwartz, Scott Alper

J Immunol. Author manuscript; available in PMC 2013 Mar 15.

Published in final edited form as: J Immunol. 2012 Mar 15; 188(6): 2905–2913. Published online 2012 Feb 6. doi: 10.4049/jimmunol.1102595

PMCID:: PMC3293945

Abstract Article PDF–1.1M

Select item 58074004.

The WDR11 complex facilitates the tethering of AP-1-derived vesicles

Paloma Navarro Negredo, James R. Edgar, Paul T. Manna, Robin Antrobus, Margaret S. Robinson

Nat Commun. 2018; 9: 596. Published online 2018 Feb 9. doi: 10.1038/s41467-018-02919-4

PMCID:: PMC5807400

Abstract Article PDF–7.6M

Select item 57122225.

TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi

John J.H. Shin, Alison K. Gillingham, Farida Begum, Jessica Chadwick, Sean Munro

Nat Cell Biol. Author manuscript; available in PMC 2018 Apr 30.

Published in final edited form as: Nat Cell Biol. 2017 Dec; 19(12): 1424–1432. Published online 2017 Oct 30. doi: 10.1038/ncb3627

PMCID:: PMC5712222

Abstract Article PDF–2.5M

Select item 1230726.

Identification of gene expression profile of dorsal root ganglion in the rat peripheral axotomy model of neuropathic pain

Hua-Sheng Xiao, Qiu-Hua Huang, Fang-Xiong Zhang, Lan Bao, Ying-Jin Lu, Chao Guo, Liang Yang, Wein-Jing Huang, Gang Fu, Shu-Hua Xu, Xi-Ping Cheng, Qing Yan, Zhi-Dong Zhu, Xin Zhang, Zhu Chen, Ze-Guang Han, Xu Zhang

Proc Natl Acad Sci U S A. 2002 Jun 11; 99(12): 8360–8365. doi: 10.1073/pnas.122231899

PMCID:: PMC123072

Abstract Article PDF–1.0M

Select item 31780597.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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