PMC Links for GEO Profiles (Select 42413807) - PMC

Select item 111326951.

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay

Christopher T. Pappas, Rachel M. Mayfield, Ava E. Dickerson, Lei Mi-Mi, Carol C. Gregorio

PLoS Genet. 2024 May; 20(5): e1011279. Published online 2024 May 15. doi: 10.1371/journal.pgen.1011279

PMCID:: PMC11132695

Select item 102522682.

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy

Reiri Sono, Tania M. Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A. Arboleda, Reshma Biniwale, Gregory A. Fishbein, Negar Khanlou, Ming-Sing Si, Gary M. Satou, Nancy Halnon, UCLA Congenital Heart Defects-BioCore Faculty, Glen S. Van Arsdell, Carol C. Gregorio, Stanly Nelson, Marlin Touma

Cells. 2023 Jun; 12(11): 1455. Published online 2023 May 23. doi: 10.3390/cells12111455

PMCID:: PMC10252268

Abstract Article PDF–3.4M

Select item 67264553.

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

Rebecca C. Ahrens-Nicklas, Christopher T. Pappas, Gerrie P. Farman, Rachel M. Mayfield, Tania M. Larrinaga, Livija Medne, Alyssa Ritter, Ian D. Krantz, Chaya Murali, Kimberly Y. Lin, Justin H. Berger, Sabrina W. Yum, Chrystalle Katte Carreon, Carol C. Gregorio

Sci Adv. 2019 Sep; 5(9): eaax2066. Published online 2019 Sep 4. doi: 10.1126/sciadv.aax2066

PMCID:: PMC6726455

Abstract Article PDF–2.2M

Select item 66009154.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 57254945.

Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair

Huiming Lu, Raghavendra A. Shamanna, Jessica K. de Freitas, Mustafa Okur, Prabhat Khadka, Tomasz Kulikowicz, Priscella P. Holland, Jane Tian, Deborah L. Croteau, Anthony J. Davis, Vilhelm A. Bohr

Nat Commun. 2017; 8: 2039. Published online 2017 Dec 11. doi: 10.1038/s41467-017-02146-3

PMCID:: PMC5725494

Abstract Article PDF–4.0M

Select item 55676096.

Crystal Structure of Leiomodin 2 in Complex with Actin: A Structural and Functional Reexamination

Malgorzata Boczkowska, Zeynep Yurtsever, Grzegorz Rebowski, Michael J. Eck, Roberto Dominguez

Biophys J. 2017 Aug 22; 113(4): 889–899. Published online 2017 Aug 22. doi: 10.1016/j.bpj.2017.07.007

PMCID:: PMC5567609

Abstract Article PDF–3.6M

Select item 50797547.

Localization of the Binding Interface between Leiomodin-2 and α-Tropomyosin

Mert Colpan, Dmitri Tolkatchev, Samantha Grover, Gregory L. Helms, John R. Cort, Natalia Moroz, Alla Kostyukova

Biochim Biophys Acta. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Biochim Biophys Acta. 2016 May; 1864(5): 523–530. Published online 2016 Feb 9. doi: 10.1016/j.bbapap.2016.02.009

PMCID:: PMC5079754

Abstract Article PDF–1.7M

Select item 46116118.

Mechanisms of leiomodin 2-mediated regulation of actin filament in muscle cells

Xiaorui Chen, Fengyun Ni, Elena Kondrashkina, Jianpeng Ma, Qinghua Wang

Proc Natl Acad Sci U S A. 2015 Oct 13; 112(41): 12687–12692. Published online 2015 Sep 28. doi: 10.1073/pnas.1512464112

PMCID:: PMC4611611

Abstract Article PDF–1.6M

Select item 45712919.

How Leiomodin and Tropomodulin use a common fold for different actin assembly functions

Malgorzata Boczkowska, Grzegorz Rebowski, Elena Kremneva, Pekka Lappalainen, Roberto Dominguez

Nat Commun. 2015; 6: 8314. Published online 2015 Sep 15. doi: 10.1038/ncomms9314

PMCID:: PMC4571291

Abstract Article PDF–4.1M

Select item 434722410.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G. Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan-Birsoy, David S. Gokhin, Jérome Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett P. Thomas, Stacey B. Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana A. Gupta, Livija Medne, Patrick Shannon, Nicole Martin, David P. Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A.C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko K. Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren-Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke

J Clin Invest. 2014 Nov 3; 124(11): 4693–4708. Published online 2014 Sep 24. doi: 10.1172/JCI75199

Correction in:: J Clin Invest. 2015 Jan 2; 125(1): 456–457.

PMCID:: PMC4347224

Abstract Article PDF–2.2M

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 294747112.

Different Localizations and Cellular Behaviors of Leiomodin and Tropomodulin in Mature Cardiomyocyte Sarcomeres

Aneta Skwarek-Maruszewska, Malgorzata Boczkowska, Allison L. Zajac, Elena Kremneva, Tatyana Svitkina, Roberto Dominguez, Pekka Lappalainen

Mol Biol Cell. 2010 Oct 1; 21(19): 3352–3361. doi: 10.1091/mbc.E10-02-0109

PMCID:: PMC2947471

Abstract Article PDF–3.4M

Select item 293160713.

Leiomodin-2 is an antagonist of tropomodulin-1 at the pointed end of the thin filaments in cardiac muscle

Takehiro Tsukada, Christopher T. Pappas, Natalia Moroz, Parker B. Antin, Alla S. Kostyukova, Carol C. Gregorio

J Cell Sci. 2010 Sep 15; 123(18): 3136–3145. Published online 2010 Aug 24. doi: 10.1242/jcs.071837

PMCID:: PMC2931607

Abstract Article

Select item 288296114.

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui

Science. Author manuscript; available in PMC 2010 Jun 9.

Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423

PMCID:: PMC2882961

Abstract Article PDF–1.2M

Select item 284590915.

Leiomodin is an Actin Filament Nucleator in Muscle Cells

David Chereau, Malgorzata Boczkowska, Aneta Skwarek-Maruszewska, Ikuko Fujiwara, David B. Hayes, Grzegorz Rebowski, Pekka Lappalainen, Thomas D. Pollard, Roberto Dominguez

Science. Author manuscript; available in PMC 2010 Mar 26.

Published in final edited form as: Science. 2008 Apr 11; 320(5873): 239–243. doi: 10.1126/science.1155313

PMCID:: PMC2845909

Abstract Article PDF–2.1M

Select item 13924116.

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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