PMC Links for Gene (Select 56527) - PMC

Select item 64366221.

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin Breuss, Guoling Tian, Nadia Bahi-Buisson, Alexander R. Paciorkowski, Alistair Pagnamenta, Andrea Wenninger-Weinzier, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti-Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Burglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A Aldinger, William B Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David Anthony Keays

Neuron. Author manuscript; available in PMC 2019 Dec 19.

Published in final edited form as: Neuron. 2018 Dec 19; 100(6): 1354–1368.e5. Published online 2018 Nov 15. doi: 10.1016/j.neuron.2018.10.044

PMCID:: PMC6436622

Abstract Article PDF–3.6M

Select item 88003892.

Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly

Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick Gaffney, Klaas J. Wierenga, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Lynn S. Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David A. Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth MA Valleley, Mahmoud Y. Issa, Sherif F. AbdelGhafar, Mohamed S. Abdel-Hamid, Patricia Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson

Neuron. Author manuscript; available in PMC 2022 Jan 29.

Published in final edited form as: Neuron. 2021 Jan 20; 109(2): 241–256.e9. Published online 2020 Nov 20. doi: 10.1016/j.neuron.2020.10.035

PMCID:: PMC8800389

Abstract Article PDF–2.7M

Select item 72950333.

Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant

Meagan A. Quinlan, Matthew J. Robson, Ran Ye, Kristie L. Rose, Kevin L. Schey, Randy D. Blakely

Front Mol Neurosci. 2020; 13: 89. Published online 2020 Jun 8. doi: 10.3389/fnmol.2020.00089

PMCID:: PMC7295033

Abstract Article PDF–2.7M

Select item 4397834.

Genomic Analysis of Mouse Retinal Development

Seth Blackshaw, Sanjiv Harpavat, Jeff Trimarchi, Li Cai, Haiyan Huang, Winston P Kuo, Griffin Weber, Kyungjoon Lee, Rebecca E Fraioli, Seo-Hee Cho, Rachel Yung, Elizabeth Asch, Lucila Ohno-Machado, Wing H Wong, Constance L Cepko

PLoS Biol. 2004 Sep; 2(9): e247. Published online 2004 Jun 29. doi: 10.1371/journal.pbio.0020247

PMCID:: PMC439783

Abstract Article PDF–975K

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 35724106.

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 2835547.

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 5289288.

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 3109929.

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 31098010.

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 13924111.

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 317805912.

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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