PMC Links for GEO Profiles (Select 72132710) - PMC

Select item 82080451.

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Lauren C. Briere, Melissa A. Walker, Frances A. High, Cynthia Cooper, Cassandra A. Rogers, Christine J. Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A. Caruso, Nutan Sharma, Elly Brokamp, Mary E. Koziura, Shekeeb S. Mohammad, Russell C. Dale, Lisa G. Riley, Undiagnosed Diseases Network, John A. Phillips, Masaaki Komatsu, David A. Sweetser

Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a005827. doi: 10.1101/mcs.a005827

PMCID:: PMC8208045

Abstract Article PDF–3.4M

Select item 79387702.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 53812263.

Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function

Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang

Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626

PMCID:: PMC5381226

Abstract Article PDF–1.4M

Select item 47522354.

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

Ranhui Duan, Yuting Shi, Li Yu, Gehan Zhang, Jia Li, Yunting Lin, Jifeng Guo, Junling Wang, Lu Shen, Hong Jiang, Guanghui Wang, Beisha Tang

PLoS One. 2016; 11(2): e0149039. Published online 2016 Feb 12. doi: 10.1371/journal.pone.0149039

PMCID:: PMC4752235

Abstract Article PDF–1.4M

Select item 35724105.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 34967216.

Transcriptional Regulation of the Ufm1 Conjugation System in Response to Disturbance of the Endoplasmic Reticulum Homeostasis and Inhibition of Vesicle Trafficking

Yinghua Zhang, Mingsheng Zhang, Jianchun Wu, Guohua Lei, Honglin Li

PLoS One. 2012; 7(11): e48587. Published online 2012 Nov 13. doi: 10.1371/journal.pone.0048587

PMCID:: PMC3496721

Abstract Article PDF–963K

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

Select item 31053378.

The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice

Kanako Tatsumi, Harumi Yamamoto-Mukai, Ritsuko Shimizu, Satoshi Waguri, Yu-Shin Sou, Ayako Sakamoto, Choji Taya, Hiroshi Shitara, Takahiko Hara, Chin Ha Chung, Keiji Tanaka, Masayuki Yamamoto, Masaaki Komatsu

Nat Commun. 2011 Feb 8; 2: 181. Published online 2011 Feb 8. doi: 10.1038/ncomms1182

PMCID:: PMC3105337

Abstract Article PDF–827K

Select item 28207709.

A Novel Type of E3 Ligase for the Ufm1 Conjugation System

Kanako Tatsumi, Yu-shin Sou, Norihiro Tada, Eri Nakamura, Shun-ichiro Iemura, Tohru Natsume, Sung Hwan Kang, Chin Ha Chung, Masanori Kasahara, Eiki Kominami, Masayuki Yamamoto, Keiji Tanaka, Masaaki Komatsu

J Biol Chem. 2010 Feb 19; 285(8): 5417–5427. Published online 2009 Dec 14. doi: 10.1074/jbc.M109.036814

PMCID:: PMC2820770

Abstract Article PDF–3.5M

Select item 52892810.

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

Abstract Article PDF–140K

Select item 40371211.

Targeting a Complex Transcriptome: The Construction of the Mouse Full-Length cDNA Encyclopedia

Piero Carninci, Kazunori Waki, Toshiyuki Shiraki, Hideaki Konno, Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Takahiro Arakawa, Yoshiyuki Ishii, Daisuke Sasaki, Hidemasa Bono, Shinji Kondo, Yuichi Sugahara, Rintaro Saito, Naoki Osato, Shiro Fukuda, Kenjiro Sato, Akira Watahiki, Tomoko Hirozane-Kishikawa, Mari Nakamura, Yuko Shibata, Ayako Yasunishi, Noriko Kikuchi, Atsushi Yoshiki, Moriaki Kusakabe, Stefano Gustincich, Kirk Beisel, William Pavan, Vassilis Aidinis, Akira Nakagawara, William A. Held, Hiroo Iwata, Tomohiro Kono, Hiromitsu Nakauchi, Paul Lyons, Christine Wells, David A. Hume, Michela Fagiolini, Takao K. Hensch, Michelle Brinkmeier, Sally Camper, Junji Hirota, Peter Mombaerts, Masami Muramatsu, Yasushi Okazaki, Jun Kawai, Yoshihide Hayashizaki

Genome Res. 2003 Jun; 13(6b): 1273–1289. doi: 10.1101/gr.1119703

PMCID:: PMC403712

Abstract Article PDF–770K

Select item 31099212.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Abstract Article PDF–3.4M

Select item 31098013.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Abstract Article PDF–1.4M

Select item 13924114.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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