PMC Links for GEO Profiles (Select 30572509) - PMC

Select item 91139821.

Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations

Zhi-Lin Ren, Hou-Bin Zhang, Lin Li, Zheng-Lin Yang, Li Jiang

Zool Res. 2022 May 18; 43(3): 442–456. doi: 10.24272/j.issn.2095-8137.2021.387

PMCID:: PMC9113982

Abstract Article PDF–11M

Select item 89026182.

The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis

Ryotaro Tsutsumi, Taro Chaya, Toshinori Tsujii, Takahisa Furukawa

J Biol Chem. 2022 Mar; 298(3): 101686. Published online 2022 Feb 4. doi: 10.1016/j.jbc.2022.101686

PMCID:: PMC8902618

Abstract Article PDF–5.4M

Select item 79387703.

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 72270284.

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

Abstract Article PDF–5.4M

Select item 60809255.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117

PMCID:: PMC6080925

Abstract Article PDF–2.8M

Select item 58126236.

Genotypic and phenotypic characterization of the Sdccag8^{Tn(sb-Tyr)2161B.CA1C2Ove} mouse model

Katie Weihbrecht, Wesley A. Goar, Calvin S. Carter, Val C. Sheffield, Seongjin Seo

PLoS One. 2018; 13(2): e0192755. Published online 2018 Feb 14. doi: 10.1371/journal.pone.0192755

PMCID:: PMC5812623

Abstract Article PDF–11M

Select item 48801867.

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

Rannar Airik, Markus Schueler, Merlin Airik, Jang Cho, Kelsey A. Ulanowicz, Jonathan D. Porath, Toby W. Hurd, Simon Bekker-Jensen, Jacob M. Schrøder, Jens S. Andersen, Friedhelm Hildebrandt

PLoS One. 2016; 11(5): e0156081. Published online 2016 May 25. doi: 10.1371/journal.pone.0156081

PMCID:: PMC4880186

Abstract Article PDF–5.9M

Select item 42145158.

Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling

Rannar Airik, Gisela G. Slaats, Zhi Guo, Anna-Carina Weiss, Naheed Khan, Amiya Ghosh, Toby W. Hurd, Simon Bekker-Jensen, Jacob M. Schrøder, Steve J. Elledge, Jens S. Andersen, Andreas Kispert, Maddalena Castelli, Alessandra Boletta, Rachel H. Giles, Friedhelm Hildebrandt

J Am Soc Nephrol. 2014 Nov; 25(11): 2573–2583. Published online 2014 Apr 10. doi: 10.1681/ASN.2013050565

PMCID:: PMC4214515

Abstract Article

Select item 41419049.

SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex

Ryan Insolera, Wei Shao, Rannar Airik, Friedhelm Hildebrandt, Song-Hai Shi

Neuron. Author manuscript; available in PMC 2015 Aug 20.

Published in final edited form as: Neuron. 2014 Aug 20; 83(4): 805–822. Published online 2014 Jul 31. doi: 10.1016/j.neuron.2014.06.029

PMCID:: PMC4141904

Abstract Article PDF–4.4M

Select item 357241010.

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 317805911.

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 302253412.

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

Abstract Article PDF–3.8M

Select item 294762013.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B. Patil, Shawn Levy, Amiya K. Ghosh, Carlos A. Murga-Zamalloa, Jeroen van Reeuwijk, Stef J.F. Letteboer, Liyun Sang, Rachel H. Giles, Qin Liu, Karlien L. M. Coene, Alejandro Estrada-Cuzcano, Rob W. J. Collin, Heather M. McLaughlin, Susanne Held, Jennifer M. Kasanuki, Gokul Ramaswami, Jinny Conte, Irma Lopez, Joseph Washburn, James MacDonald, Jinghua Hu, Yukiko Yamashita, Eamonn R. Maher, Lisa Guay-Woodford, Hartmut P.H. Neumann, Nicholas Obermüller, Robert K. Koenekoop, Carsten Bergmann, Xiaoshu Bei, Richard A. Lewis, Nicholas Katsanis, Vanda Lopes, David S. Williams, Robert H. Lyons, Chi V. Dang, Daniela A. Brito, Mónica Bettencourt Dias, Xinmin Zhang, Gudrun Nürnberg, Peter Nürnberg, Eric Pierce, Peter Jackson, Corinne Antignac, Sophie Saunier, Ronald Roepman, Helene Dollfus, Hemant Khanna, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Nat Genet. 2010 Oct; 42(10): 840–850. Published online 2010 Sep 12. doi: 10.1038/ng.662

PMCID:: PMC2947620

Abstract Article PDF–1.4M

Select item 31099214.

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 31098015.

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 28355416.

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 16551117.

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

Abstract Article PDF–217K

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

Abstract Article PDF–118K

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