PMC Links for Protein (Select 317373548) - PMC

Select item 48334651.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Elizabeth J. Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter Crino, Hakon Hakonarson

Am J Hum Genet. 2016 Apr 7; 98(4): 782–788. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.03.016

PMCID:: PMC4833465

Article PDF–788K

Select item 48331962.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern-Holmes, Zara Richmond, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Xilma R. Ortiz-Gonzalez, Marco Tartaglia, Maya Chopra, Dan Doherty

Am J Hum Genet. 2016 Apr 7; 98(4): 772–781. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.01.016

PMCID:: PMC4833196

Article PDF–1.5M

Select item 37472673.

TBCK Influences Cell Proliferation, Cell Size and mTOR Signaling Pathway

Yueli Liu, Xiaoyi Yan, Tianhua Zhou

PLoS One. 2013; 8(8): e71349. Published online 2013 Aug 19. doi: 10.1371/journal.pone.0071349

PMCID:: PMC3747267

Article PDF–6.0M

Select item 27127194.

Patterns of somatic mutation in human cancer genomes

Christopher Greenman, Philip Stephens, Raffaella Smith, Gillian L. Dalgliesh, Christopher Hunter, Graham Bignell, Helen Davies, Jon Teague, Adam Butler, Claire Stevens, Sarah Edkins, Sarah O'Meara, Imre Vastrik, Esther E. Schmidt, Tim Avis, Syd Barthorpe, Gurpreet Bhamra, Gemma Buck, Bhudipa Choudhury, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kris Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jon Hinton, Andy Jenkinson, David Jones, Andy Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, Dave Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, Daniel P. Cahill, David N. Louis, Peter Goldstraw, Andrew G. Nicholson, Francis Brasseur, Leendert Looijenga, Barbara L. Weber, Yoke-Eng Chiew, Anna deFazio, Mel F. Greaves, Anthony R. Green, Peter Campbell, Ewan Birney, Douglas F. Easton, Georgia Chenevix-Trench, Min-Han Tan, Sok Kean Khoo, Bin Tean Teh, Siu Tsan Yuen, Suet Yi Leung, Richard Wooster, P. Andrew Futreal, Michael R. Stratton

Nature. Author manuscript; available in PMC 2009 Jul 20.

Published in final edited form as: Nature. 2007 Mar 8; 446(7132): 153–158. doi: 10.1038/nature05610

PMCID:: PMC2712719

Article PDF–867K

Select item 5289285.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Article PDF–140K

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