PMC Links for Gene (Select 50769) - PMC

Select item 39377791.

Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival

Jonathan A. Coleman, Xianjun Zhu, Hidayat R. Djajadi, Laurie L. Molday, Richard S. Smith, Richard T. Libby, Simon W. M. John, Robert S. Molday

J Cell Sci. 2014 Mar 1; 127(5): 1138–1149. doi: 10.1242/jcs.145052

PMCID:: PMC3937779

Article

Select item 30028642.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon-Ravix, Bilal El-Waly, Anne Moncla, Chantal Missirian, Brigitte Chabrol, Laurent Villard

Eur J Hum Genet. 2010 Dec; 18(12): 1360–1363. Published online 2010 Aug 4. doi: 10.1038/ejhg.2010.126

PMCID:: PMC3002864

Article PDF–304K

Select item 43650353.

Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase

Shoken Lee, Yasunori Uchida, Jiao Wang, Tatsuyuki Matsudaira, Takatoshi Nakagawa, Takuma Kishimoto, Kojiro Mukai, Takehiko Inaba, Toshihide Kobayashi, Robert S Molday, Tomohiko Taguchi, Hiroyuki Arai

EMBO J. 2015 Mar 4; 34(5): 669–688. Published online 2015 Jan 16. doi: 10.15252/embj.201489703

PMCID:: PMC4365035

Article PDF–2.5M

Select item 27816824.

Localization, Purification, and Functional Reconstitution of the P₄-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes

Jonathan A. Coleman, Michael C. M. Kwok, Robert S. Molday

J Biol Chem. 2009 Nov 20; 284(47): 32670–32679. Published online 2009 Sep 24. doi: 10.1074/jbc.M109.047415

PMCID:: PMC2781682

Article PDF–2.0M

Select item 34154405.

Mutations in a P-Type ATPase Gene Cause Axonal Degeneration

Xianjun Zhu, Richard T. Libby, Wilhelmine N. de Vries, Richard S. Smith, Dana L. Wright, Roderick T. Bronson, Kevin L. Seburn, Simon W. M. John

PLoS Genet. 2012 Aug; 8(8): e1002853. Published online 2012 Aug 9. doi: 10.1371/journal.pgen.1002853

PMCID:: PMC3415440

Article PDF–4.8M

Select item 55712236.

Loss of Tmem30a leads to photoreceptor degeneration

Lin Zhang, Yeming Yang, Shujin Li, Shanshan Zhang, Xiong Zhu, Zhengfu Tai, Mu Yang, Yuqing Liu, Xinzheng Guo, Bo Chen, Zhilin Jiang, Fang Lu, Xianjun Zhu

Sci Rep. 2017; 7: 9296. Published online 2017 Aug 24. doi: 10.1038/s41598-017-09506-5

PMCID:: PMC5571223

Article PDF–7.1M

Select item 44843927.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Heather Fairfield, Anuj Srivastava, Guruprasad Ananda, Rangjiao Liu, Martin Kircher, Anuradha Lakshminarayana, Belinda S. Harris, Son Yong Karst, Louise A. Dionne, Coleen C. Kane, Michelle Curtain, Melissa L. Berry, Patricia F. Ward-Bailey, Ian Greenstein, Candice Byers, Anne Czechanski, Jocelyn Sharp, Kristina Palmer, Polyxeni Gudis, Whitney Martin, Abby Tadenev, Laurent Bogdanik, C. Herbert Pratt, Bo Chang, David G. Schroeder, Gregory A. Cox, Paul Cliften, Jeffrey Milbrandt, Stephen Murray, Robert Burgess, David E. Bergstrom, Leah Rae Donahue, Hanan Hamamy, Amira Masri, Federico A. Santoni, Periklis Makrythanasis, Stylianos E. Antonarakis, Jay Shendure, Laura G. Reinholdt

Genome Res. 2015 Jul; 25(7): 948–957. doi: 10.1101/gr.186882.114

PMCID:: PMC4484392

Article PDF–604K

Select item 72270288.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Article PDF–5.4M

Select item 107693509.

Identification of new ciliary signaling pathways in the brain and insights into neurological disorders

Abdelhalim Loukil, Emma Ebright, Akiyoshi Uezu, Yudong Gao, Scott H Soderling, Sarah C. Goetz

Version 1. bioRxiv. Preprint. 2023 Dec 21. doi: 10.1101/2023.12.20.572700

PMCID:: PMC10769350

Article PDF–11M

Select item 831323910.

Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development

Francesco Bedogni, Robert F. Hevner

Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034

PMCID:: PMC8313239

Article PDF–1.6M

Select item 141356811.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 793877012.

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 1091766013.

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

Article PDF–4.8M

Select item 28355414.

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 302253415.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582

PMCID:: PMC3022534

Article PDF–3.8M

Select item 31099216.

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 31098017.

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 13924118.

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 317805919.

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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