PMC Links for Gene (Select 27883) - PMC

Select item 47463371.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack

Am J Hum Genet. 2016 Feb 4; 98(2): 358–362. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.009

PMCID:: PMC4746337

Abstract Article PDF–402K

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 250695.

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Anne Puech, Bruno Saint-Jore, Birgit Funke, Debra J. Gilbert, Howard Sirotkin, Neal G. Copeland, Nancy A. Jenkins, Raju Kucherlapati, Bernice Morrow, Arthur I. Skoultchi

Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26): 14608–14613. doi: 10.1073/pnas.94.26.14608

PMCID:: PMC25069

Abstract Article PDF–184K

Select item 2836096.

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 45855287.

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 39172458.

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 3111199.

Construction of Long-Transcript Enriched cDNA Libraries from Submicrogram Amounts of Total RNAs by a Universal PCR Amplification Method

Yulan Piao, Naomi T. Ko, Meng K. Lim, Minoru S.H. Ko

Genome Res. 2001 Sep; 11(9): 1553–1558. doi: 10.1101/gr.185501

PMCID:: PMC311119

Abstract Article PDF–743K

Select item 18788510.

A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome

Jens Hansen, Thomas Floss, Petra Van Sloun, Ernst-Martin Füchtbauer, Franz Vauti, Hans-Hennig Arnold, Frank Schnütgen, Wolfgang Wurst, Harald von Melchner, Patricia Ruiz

Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17): 9918–9922. Published online 2003 Aug 6. doi: 10.1073/pnas.1633296100

PMCID:: PMC187885

Abstract Article PDF–287K

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 1683312.

Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray

Tetsuya S. Tanaka, Saied A. Jaradat, Meng K. Lim, George J. Kargul, Xiaohong Wang, Marija J. Grahovac, Serafino Pantano, Yuri Sano, Yulan Piao, Ramaiah Nagaraja, Hirofumi Doi, William H. Wood, III, Kevin G. Becker, Minoru S. H. Ko

Proc Natl Acad Sci U S A. 2000 Aug 1; 97(16): 9127–9132. doi: 10.1073/pnas.97.16.9127

PMCID:: PMC16833

Abstract Article PDF–847K

Select item 255627013.

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 1091766014.

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

Abstract Article PDF–4.8M

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 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

Abstract 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

Abstract 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

Abstract 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

Abstract Article PDF–1.0M

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