PMC Links for Protein (Select 296452924) - PMC

Select item 64590591.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

Shimon Edvardson, Guoling Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo, Saiuj Bhat, Adi Aran, Muhannad Daana, Naderah Da’amseh, Bassam Abu-Libdeh, Nicholas J. Cowan, Julian Ik-Tsen Heng, Orly Elpeleg

Hum Mol Genet. 2016 Nov 1; 25(21): 4635–4648. Published online 2016 Aug 29. doi: 10.1093/hmg/ddw292

PMCID:: PMC6459059

Article PDF–1.5M

Select item 50656612.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe, George Imataka, Huey Yin Leong, Aviva Fattal-Valevski, Uri Kramer, Satoko Miyatake, Mitsuhiro Kato, Nobuhiko Okamoto, Yoshinori Sato, Satomi Mitsuhashi, Ichizo Nishino, Naofumi Kaneko, Akira Nishiyama, Tomohiko Tamura, Takeshi Mizuguchi, Mitsuko Nakashima, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

Am J Hum Genet. 2016 Oct 6; 99(4): 950–961. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.005

PMCID:: PMC5065661

Article PDF–3.6M

Select item 50656583.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Jr., Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia

Am J Hum Genet. 2016 Oct 6; 99(4): 962–973. Published online 2016 Sep 22. doi: 10.1016/j.ajhg.2016.08.003

PMCID:: PMC5065658

Article PDF–2.1M

Select item 30395704.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Article PDF–2.3M

Select item 29582305.

Effect of TBCD and its Regulatory Interactor Arl2 on Tubulin and Microtubule Integrity

Guoling Tian, Simi Thomas, Nicholas J. Cowan

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2010 Nov; 67(11): 706–714. doi: 10.1002/cm.20480

PMCID:: PMC2958230

Article PDF–912K

Select item 26104346.

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Michael C. Zody, Manuel Garber, David J. Adams, Ted Sharpe, Jennifer Harrow, James R. Lupski, Christine Nicholson, Steven M. Searle, Laurens Wilming, Sarah K. Young, Amr Abouelleil, Nicole R. Allen, Weimin Bi, Toby Bloom, Mark L. Borowsky, Boris E. Bugalter, Jonathan Butler, Jean L. Chang, Chao-Kung Chen, April Cook, Benjamin Corum, Christina A. Cuomo, Pieter J. de Jong, David DeCaprio, Ken Dewar, Michael FitzGerald, James Gilbert, Richard Gibson, Sante Gnerre, Steven Goldstein, Darren V. Grafham, Russell Grocock, Nabil Hafez, Daniel S. Hagopian, Elizabeth Hart, Catherine Hosage Norman, Sean Humphray, David B. Jaffe, Matt Jones, Michael Kamal, Varsha K. Khodiyar, Kurt LaButti, Gavin Laird, Jessica Lehoczky, Xiaohong Liu, Tashi Lokyitsang, Jane Loveland, Annie Lui, Pendexter Macdonald, John E. Major, Lucy Matthews, Evan Mauceli, Steven A. McCarroll, Atanas H. Mihalev, Jonathan Mudge, Cindy Nguyen, Robert Nicol, Sinéad B. O'Leary, Kazutoyo Osoegawa, David C. Schwartz, Charles Shaw-Smith, Pawel Stankiewicz, Charles Steward, David Swarbreck, Vijay Venkataraman, Charles A. Whittaker, Xiaoping Yang, Andrew R. Zimmer, Allan Bradley, Tim Hubbard, Bruce W. Birren, Jane Rogers, Eric S. Lander, Chad Nusbaum

Nature. Author manuscript; available in PMC 2008 Dec 29.

Published in final edited form as: Nature. 2006 Apr 20; 440(7087): 1045–1049. doi: 10.1038/nature04689

PMCID:: PMC2610434

Article PDF–947K

Select item 22136767.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Article PDF–939K

Select item 21748238.

Adp Ribosylation Factor-like Protein 2 (Arl2) Regulates the Interaction of Tubulin-Folding Cofactor D with Native Tubulin

Arunashree Bhamidipati, Sally A. Lewis, Nicholas J. Cowan

J Cell Biol. 2000 May 29; 149(5): 1087–1096. doi: 10.1083/jcb.149.5.1087

PMCID:: PMC2174823

Article PDF–400K

Select item 5289289.

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

Select item 52484210.

Large-scale cDNA transfection screening for genes related to cancer development and progression

Dafang Wan, Yi Gong, Wenxin Qin, Pingping Zhang, Jinjun Li, Lin Wei, Xiaomei Zhou, Hongnian Li, Xiaokun Qiu, Fei Zhong, Liping He, Jian Yu, Genfu Yao, Huiqiu Jiang, Lianfang Qian, Ye Yu, Huiqun Shu, Xianlian Chen, Huili Xu, Minglei Guo, Zhimei Pan, Yan Chen, Chao Ge, Shengli Yang, Jianren Gu

Proc Natl Acad Sci U S A. 2004 Nov 2; 101(44): 15724–15729. Published online 2004 Oct 21. doi: 10.1073/pnas.0404089101

Correction in:: Proc Natl Acad Sci U S A. 2004 Dec 14; 101(50): 17565.

PMCID:: PMC524842

Article PDF–245K

Select item 573829511.

MicroRNAs associated with inflammation in shoulder tendinopathy and glenohumeral arthritis

Finosh G Thankam, Chandra S Boosani, Matthew F. Dilisio, Devendra K. Agrawal

Mol Cell Biochem. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Mol Cell Biochem. 2018 Jan; 437(1-2): 81–97. Published online 2017 Jun 20. doi: 10.1007/s11010-017-3097-7

PMCID:: PMC5738295

Article PDF–1006K

Select item 373313012.

Functional Classification of Cellular Proteome Profiles Support the Identification of Drug Resistance Signatures in Melanoma Cells

Verena Paulitschke, Verena Haudek-Prinz, Johannes Griss, Walter Berger, Thomas Mohr, Hubert Pehamberger, Rainer Kunstfeld, Christopher Gerner

J Proteome Res. 2013 Jul 5; 12(7): 3264–3276. Published online 2013 May 29. doi: 10.1021/pr400124w

PMCID:: PMC3733130

Article PDF–8.9M

Select item 342164513.

The Interactome of the Human Respiratory Syncytial Virus NS1 Protein Highlights Multiple Effects on Host Cell Biology

Weining Wu, Kim C. Tran, Michael N. Teng, Kate J. Heesom, David A. Matthews, John N. Barr, Julian A. Hiscox

J Virol. 2012 Aug; 86(15): 7777–7789. doi: 10.1128/JVI.00460-12

PMCID:: PMC3421645

Article PDF–1.3M

Select item 315724014.

Expression of Endoplasmic Reticulum Stress Proteins Is a Candidate Marker of Brain Metastasis in both ErbB-2⁺ and ErbB-2⁻ Primary Breast Tumors

Rebeca Sanz-Pamplona, Ramón Aragüés, Keltouma Driouch, Berta Martín, Baldo Oliva, Miguel Gil, Susana Boluda, Pedro L. Fernández, Antonio Martínez, Víctor Moreno, Juan J. Acebes, Rosette Lidereau, Fabien Reyal, Marc J. Van de Vijver, Angels Sierra

Am J Pathol. 2011 Aug; 179(2): 564–579. doi: 10.1016/j.ajpath.2011.04.037

PMCID:: PMC3157240

Article PDF–4.4M

Select item 274681615.

OnEX: Exploring changes in life science ontologies

Michael Hartung, Toralf Kirsten, Anika Gross, Erhard Rahm

BMC Bioinformatics. 2009; 10: 250. Published online 2009 Aug 13. doi: 10.1186/1471-2105-10-250

PMCID:: PMC2746816

Article PDF–2.2M

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