PMC Links for Gene (Select 18100) - PMC

Select item 51141771.

Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium

P Devaraju, J Yu, D Eddins, M M Mellado-Lagarde, L R Earls, J J Westmoreland, G Quarato, D R Green, S S Zakharenko

Mol Psychiatry. 2017 Sep; 22(9): 1313–1326. Published online 2016 May 17. doi: 10.1038/mp.2016.75

PMCID:: PMC5114177

Abstract Article PDF–963K

Select item 27295122.

Mitochondral localization and function of a subset of 22q11 Deletion Syndrome candidate genes

T. M. Maynard, D. W. Meechan, M. L. Dudevoir, D. Gopalakrishna, A. Z. Peters, C. C. Heindel, T. J. Sugimoto, Y. Wu, J. A. Lieberman, A.-S. LaMantia

Mol Cell Neurosci. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Mol Cell Neurosci. 2008 Nov; 39(3): 439–451. Published online 2008 Aug 15. doi: 10.1016/j.mcn.2008.07.027

PMCID:: PMC2729512

Abstract Article PDF–7.5M

Select item 277093.

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region

Anne Puech, Bruno Saint-Jore, Sandra Merscher, Robert G. Russell, Dorra Cherif, Howard Sirotkin, Hui Xu, Stephen Factor, Raju Kucherlapati, Arthur I. Skoultchi

Proc Natl Acad Sci U S A. 2000 Aug 29; 97(18): 10090–10095. doi: 10.1073/pnas.97.18.10090

PMCID:: PMC27709

Abstract Article PDF–396K

Select item 35261614.

22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development

Thomas M. Maynard, Deepak Gopalakrishna, Daniel W. Meechan, Elizabeth M. Paronett, Jason M. Newbern, Anthony-Samuel LaMantia

Hum Mol Genet. 2013 Jan 15; 22(2): 300–312. Published online 2012 Oct 16. doi: 10.1093/hmg/dds429

PMCID:: PMC3526161

Abstract Article PDF–733K

Select item 2836095.

A comprehensive analysis of 22q11 gene expression in the developing and adult brain

T. M. Maynard, G. T. Haskell, A. Z. Peters, L. Sikich, J. A. Lieberman, A.-S. LaMantia

Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14433–14438. Published online 2003 Nov 12. doi: 10.1073/pnas.2235651100

PMCID:: PMC283609

Abstract Article PDF–1.1M

Select item 45855286.

Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation

Elizabeth M. Paronett, Daniel W. Meechan, Beverly A. Karpinski, Anthony-Samuel LaMantia, Thomas M. Maynard

Cereb Cortex. 2015 Oct; 25(10): 3977–3993. Published online 2014 Dec 1. doi: 10.1093/cercor/bhu285

PMCID:: PMC4585528

Abstract Article PDF–2.0M

Select item 39172457.

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome

Beverly A. Karpinski, Thomas M. Maynard, Matthew S. Fralish, Samer Nuwayhid, Irene E. Zohn, Sally A. Moody, Anthony-S. LaMantia

Dis Model Mech. 2014 Feb; 7(2): 245–257. Published online 2013 Dec 19. doi: 10.1242/dmm.012484

PMCID:: PMC3917245

Abstract Article

Select item 77260628.

Expression analysis of mammalian mitochondrial ribosomal protein genes

Agnes Cheong, Ranjana Lingutla, Jesse Mager

Gene Expr Patterns. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Gene Expr Patterns. 2020 Dec; 38: 119147. Published online 2020 Sep 25. doi: 10.1016/j.gep.2020.119147

PMCID:: PMC7726062

Abstract Article PDF–934K

Select item 42460629.

Structure of the large ribosomal subunit from human mitochondria

Alan Brown, Alexey Amunts, Xiao-chen Bai, Yoichiro Sugimoto, Patricia C. Edwards, Garib Murshudov, Sjors H. W. Scheres, V. Ramakrishnan

Science. Author manuscript; available in PMC 2015 May 7.

Published in final edited form as: Science. 2014 Nov 7; 346(6210): 718–722. Published online 2014 Oct 2. doi: 10.1126/science.1258026

PMCID:: PMC4246062

Abstract Article PDF–1.6M

Select item 538122610.

Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function

Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang

Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626

PMCID:: PMC5381226

Abstract Article PDF–1.4M

Select item 277884411.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 141356812.

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 793877013.

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 255627014.

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin

Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108

PMCID:: PMC2556270

Abstract Article PDF–493K

Select item 28355415.

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 52892816.

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 31099217.

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 31098018.

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 13924119.

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 317805920.

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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