PMC Links for Gene (Select 208518) - PMC

Select item 99841951.

Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual

Tianyu Zhu, Yuxin Zhang, Xunlun Sheng, Xiangzheng Zhang, Yu Chen, Hongjing Zhu, Yueshuai Guo, Yaling Qi, Yichen Zhao, Qi Zhou, Xue Chen, Xuejiang Guo, Chen Zhao

eLife. 2023; 12: e76157. Published online 2023 Feb 9. doi: 10.7554/eLife.76157

PMCID:: PMC9984195

Article PDF–16M

Select item 95443412.

Loss-of-function mutations in CEP78 cause male infertility in humans and mice

Xueguang Zhang, Rui Zheng, Chen Liang, Haotian Liu, Xiaozhen Zhang, Yongyi Ma, Mohan Liu, Wei Zhang, Yang Yang, Man Liu, Chuan Jiang, Qingjia Ren, Yan Wang, Suren Chen, Yihong Yang, Ying Shen

Sci Adv. 2022 Oct; 8(40): eabn0968. Published online 2022 Oct 7. doi: 10.1126/sciadv.abn0968

PMCID:: PMC9544341

Article PDF–10M

Select item 50110743.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K. Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V. Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre P. Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

Am J Hum Genet. 2016 Sep 1; 99(3): 770–776. Published online 2016 Sep 1. doi: 10.1016/j.ajhg.2016.07.009

PMCID:: PMC5011074

Article PDF–1.3M

Select item 29894614.

Systematic Characterization of Human Protein Complexes Identifies Chromosome Segregation Proteins

James R.A. Hutchins, Yusuke Toyoda, Björn Hegemann, Ina Poser, Jean-Karim Hériché, Martina M. Sykora, Martina Augsburg, Otto Hudecz, Bettina A. Buschhorn, Jutta Bulkescher, Christian Conrad, David Comartin, Alexander Schleiffer, Mihail Sarov, Andrei Pozniakovsky, Mikolaj Michal Slabicki, Siegfried Schloissnig, Ines Steinmacher, Marit Leuschner, Andrea Ssykor, Steffen Lawo, Laurence Pelletier, Holger Stark, Kim Nasmyth, Jan Ellenberg, Richard Durbin, Frank Buchholz, Karl Mechtler, Anthony A. Hyman, Jan-Michael Peters

Science. Author manuscript; available in PMC 2010 Nov 22.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 593–599. Published online 2010 Apr 1. doi: 10.1126/science.1181348

PMCID:: PMC2989461

Article PDF–2.2M

Select item 298005.

Database resources of the National Center for Biotechnology Information

David L. Wheeler, Deanna M. Church, Alex E. Lash, Detlef D. Leipe, Thomas L. Madden, Joan U. Pontius, Gregory D. Schuler, Lynn M. Schriml, Tatiana A. Tatusova, Lukas Wagner, Barbara A. Rapp

Nucleic Acids Res. 2001 Jan 1; 29(1): 11–16. doi: 10.1093/nar/29.1.11

PMCID:: PMC29800

Article PDF–101K

Select item 1655116.

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin

Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064

PMCID:: PMC165511

Article PDF–217K

Select item 79387707.

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

Article PDF–2.0M

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

Article PDF–481K

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

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

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

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

Article PDF–1.0M

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