PMC Links for Gene (Select 70394) - PMC

Select item 106297921.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins, Stephen J Sawiak, Phillip H Iffland, II, Malin H L Andersson, Caleb Bupp, Emma L Cambridge, Eve L Coomber, Ian Ellis, Johanna C Herkert, Holly Ironfield, Logan Jory, Perrine F Kretz, Sarina G Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M Scott, Helen Stewart, Andrew Y Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J Lelliott, Peter B Crino, Binnaz Yalcin, Andrew H Crosby, Emma L Baple, Darren W Logan, Matthew E Hurles, Sebastian S Gerety

Brain. 2023 Nov; 146(11): 4766–4783. Published online 2023 Jul 12. doi: 10.1093/brain/awad231

PMCID:: PMC10629792

Abstract Article PDF–1.3M

Select item 3418472.

The gene for soluble N-ethylmaleimide sensitive factor attachment protein α is mutated in hydrocephaly with hop gait (hyh) mice

Hee-Kyung Hong, Aravinda Chakravarti, Joseph S. Takahashi

Proc Natl Acad Sci U S A. 2004 Feb 10; 101(6): 1748–1753. Published online 2004 Jan 30. doi: 10.1073/pnas.0308268100

PMCID:: PMC341847

Abstract Article PDF–409K

Select item 37172073.

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

Jacqueline K. White, Anna-Karin Gerdin, Natasha A. Karp, Ed Ryder, Marija Buljan, James N. Bussell, Jennifer Salisbury, Simon Clare, Neil J. Ingham, Christine Podrini, Richard Houghton, Jeanne Estabel, Joanna R. Bottomley, David G. Melvin, David Sunter, Niels C. Adams, The Sanger Institute Mouse Genetics Project, David Tannahill, Darren W. Logan, Daniel G. MacArthur, Jonathan Flint, Vinit B. Mahajan, Stephen H. Tsang, Ian Smyth, Fiona M. Watt, William C. Skarnes, Gordon Dougan, David J. Adams, Ramiro Ramirez-Solis, Allan Bradley, Karen P. Steel

Cell. 2013 Jul 18; 154(2): 452–464. doi: 10.1016/j.cell.2013.06.022

PMCID:: PMC3717207

Abstract Article PDF–3.4M

Select item 64595104.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel

PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194

PMCID:: PMC6459510

Abstract Article PDF–5.1M

Select item 79387705.

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 109176606.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 35724107.

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 2835548.

Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention

Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100

Correction in:: Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.

PMCID:: PMC283554

Abstract Article PDF–481K

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

Abstract Article PDF–140K

Select item 31099210.

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 31098011.

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 13924112.

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

Select item 317805913.

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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