PMC Links for Gene (Select 108154) - PMC

Select item 108840301.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer

Nat Commun. 2024; 15: 1640. Published online 2024 Feb 22. doi: 10.1038/s41467-024-45948-y

PMCID:: PMC10884030

Article PDF–7.0M

Select item 54417402.

Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development

Meade Haller, Qianxing Mo, Akira Imamoto, Dolores J. Lamb

Proc Natl Acad Sci U S A. 2017 May 9; 114(19): 4981–4986. Published online 2017 Apr 24. doi: 10.1073/pnas.1619523114

PMCID:: PMC5441740

Article PDF–3.0M

Select item 90643053.

Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development

Timothy J Mead, Daniel R Martin, Lauren W Wang, Stuart A Cain, Cagri Gulec, Elisabeth Cahill, Joseph Mauch, Dieter Reinhardt, Cecilia Lo, Clair Baldock, Suneel S Apte

eLife. 2022; 11: e71142. Published online 2022 May 3. doi: 10.7554/eLife.71142

PMCID:: PMC9064305

Article PDF–25M

Select item 48041764.

Genetic link between renal birth defects and congenital heart disease

Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour

Nat Commun. 2016; 7: 11103. Published online 2016 Mar 22. doi: 10.1038/ncomms11103

Correction in:: Nat Commun. 2016; 7: 11910.

PMCID:: PMC4804176

Article PDF–3.9M

Select item 104787535.

Lem2 is essential for cardiac development by maintaining nuclear integrity

Jacob A Ross, Nathaly Arcos-Villacis, Edmund Battey, Cornelis Boogerd, Constanza Avalos Orellana, Emilie Marhuenda, Pamela Swiatlowska, Didier Hodzic, Fabrice Prin, Tim Mohun, Norman Catibog, Olga Tapia, Larry Gerace, Thomas Iskratsch, Ajay M Shah, Matthew J Stroud

Cardiovasc Res. 2023 Aug; 119(11): 2074–2088. Published online 2023 Apr 17. doi: 10.1093/cvr/cvad061

PMCID:: PMC10478753

Article PDF–33M

Select item 39987886.

Fine-mapping quantitative trait loci affecting murine external ear tissue regeneration in the LG/J by SM/J advanced intercross line

J M Cheverud, H A Lawson, K Bouckaert, A V Kossenkov, L C Showe, L Cort, E P Blankenhorn, K Bedelbaeva, D Gourevitch, Y Zhang, E Heber-Katz

Heredity (Edinb) 2014 May; 112(5): 508–518. Published online 2014 Feb 26. doi: 10.1038/hdy.2013.133

PMCID:: PMC3998788

Article PDF–1.8M

Select item 29371017.

O-Fucosylation of Thrombospondin Type 1 Repeats Restricts Epithelial to Mesenchymal Transition (EMT) and Maintains Epiblast Pluripotency During Mouse Gastrulation

Jianguang Du, Hideyuki Takeuchi, Christina Leonhard-Melief, Kenneth R. Shroyer, Malgosia Dlugosz, Robert S. Haltiwanger, Bernadette C. Holdener

Dev Biol. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: Dev Biol. 2010 Oct 1; 346(1): 25–38. Published online 2010 Jul 14. doi: 10.1016/j.ydbio.2010.07.008

PMCID:: PMC2937101

Article PDF–3.9M

Select item 46175408.

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo

Nature. Author manuscript; available in PMC 2015 Nov 28.

Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269

PMCID:: PMC4617540

Article PDF–518K

Select item 109176609.

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 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

Article PDF–1.1M

Select item 31099211.

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 31098012.

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 13924113.

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 317805914.

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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