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Items: 1 to 20 of 63

1.
Expanding the genotypic spectrum of ACTG2-related visceral myopathy
Kiely N. James, Megan Lau, Katayoon Shayan, Jerica Lenberg, Rebecca Mardach, Romeo Ignacio, Jr., Jonathan Halbach, Lillian Choi, Soma Kumar, Katarzyna A. Ellsworth
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006085. doi: 10.1101/mcs.a006085
PMCID:
PMC8208046
AbstractArticlePDF–1.7M
2.
Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy
Nurit Assia Batzir, Pranjali K. Bhagwat, Austin Larson, Zeynep C. Akdemir, Maciej Bagłaj, Leon Bofferding, Katherine B. Bosanko, Skander Bouassida, Bert Callewaert, Ashley Cannon, Yazmin E. Colon, Adolfo D. Garnica, Margaret H. Harr, Sandra Heck, Anna C. Hurst, Shalini N. Jhangiani, Bertrand Isidor, Rebecca O. Littlejohn, Pengfei Liu, Pilar Magoulas, Helen Mar Fan, Ronit Marom, Scott McLean, Marjan M. Nezarati, Kimberly M. Nugent, Michael B. Petersen, Maria L. Rocha, Elizabeth Roeder, Robert Smigiel, Ian Tully, James Weisfeld-Adams, Katerina O. Wells, Baylor-Hopkins Center for Mendelian Genomics Jennifer E. Posey, James R. Lupski, Arthur L. Beaudet, Michael F. Wangler
Hum Mutat. Author manuscript; available in PMC 2021 Mar 1.
Published in final edited form as: Hum Mutat. 2020 Mar; 41(3): 641–654. Published online 2019 Dec 19. doi: 10.1002/humu.23960
PMCID:
PMC7720429
AbstractArticlePDF–1.5M
3.
Pseudo-obstruction–inducing ACTG2R257C alters actin organization and function
Sohaib Khalid Hashmi, Vasia Barka, Changsong Yang, Sabine Schneider, Tatyana M. Svitkina, Robert O. Heuckeroth
JCI Insight. 2020 Aug 20; 5(16): e140604. Published online 2020 Aug 20. doi: 10.1172/jci.insight.140604
PMCID:
PMC7455133
AbstractArticlePDF–13M
4.
Diagnosis of Chronic Intestinal Pseudo-Obstruction & Megacystis by Sequencing the ACTG2 Gene
Aubrey Milunsky, Clinton Baldwin, Xiaoying Zhang, Daniel Primack, Adrian Curnow, Jeff Milunsky
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2017 Oct; 65(4): 384–387. doi: 10.1097/MPG.0000000000001608
PMCID:
PMC5610062
AbstractArticlePDF–385K
5.
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
Ivana Matera, Marta Rusmini, Yiran Guo, Margherita Lerone, Jiankang Li, Jianguo Zhang, Marco Di Duca, Paolo Nozza, Manuela Mosconi, Alessio Pini Prato, Giuseppe Martucciello, Arrigo Barabino, Francesco Morandi, Roberto De Giorgio, Vincenzo Stanghellini, Roberto Ravazzolo, Marcella Devoto, Hakon Hakonarson, Isabella Ceccherini
Eur J Hum Genet. 2016 Aug; 24(8): 1211–1215. Published online 2016 Jan 27. doi: 10.1038/ejhg.2015.275
PMCID:
PMC4970688
AbstractArticlePDF–500K
6.
A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis
Katarina Edfeldt, Per Hellman, Gunnar Westin, Peter Stalberg
BMC Endocr Disord. 2016; 16: 19. Published online 2016 Apr 23. doi: 10.1186/s12902-016-0100-3
PMCID:
PMC4841950
AbstractArticlePDF–2.2M
7.
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Joakim Klar, Doroteya Raykova, Elisabet Gustafson, Iveta Tóthová, Adam Ameur, Alkwin Wanders, Niklas Dahl
Eur J Hum Genet. 2015 Dec; 23(12): 1679–1683. Published online 2015 Mar 18. doi: 10.1038/ejhg.2015.49
PMCID:
PMC4795199
AbstractArticlePDF–562K
8.
Gamma-Smooth Muscle Actin Expression Is Associated with Epithelial-Mesenchymal Transition and Stem-Like Properties in Hepatocellular Carcinoma
Nassima Benzoubir, Charlotte Mussini, Charlène Lejamtel, Alexandre Dos Santos, Claire Guillaume, Christophe Desterke, Didier Samuel, Christian Bréchot, Marie-Françoise Bourgeade, Catherine Guettier
PLoS One. 2015; 10(6): e0130559. Published online 2015 Jun 25. doi: 10.1371/journal.pone.0130559
PMCID:
PMC4482489
AbstractArticlePDF–2.7M
9.
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Michael F. Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A. Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, James R. Lupski, Arthur Beaudet
PLoS Genet. 2014 Mar; 10(3): e1004258. Published online 2014 Mar 27. doi: 10.1371/journal.pgen.1004258
PMCID:
PMC3967950
AbstractArticlePDF–1.8M
10.
A HindIII DNA polymorphism in the human enteric type smooth muscle actin gene (ACTSG).
H Ueyama
Nucleic Acids Res. 1991 Jan 25; 19(2): 411. doi: 10.1093/nar/19.2.411
PMCID:
PMC333620
SummaryPage BrowsePDF–102K
11.
The nucleotide sequence of a human smooth muscle (enteric type) gamma-actin cDNA.
T Miwa, S Kamada
Nucleic Acids Res. 1990 Jul 25; 18(14): 4263. doi: 10.1093/nar/18.14.4263
PMCID:
PMC331204
SummaryPage BrowsePDF–185K
12.
LINC01278 Sponges miR‐500b‐5p to Regulate the Expression of ACTG2 to Control Phenotypic Switching in Human Vascular Smooth Muscle Cells During Aortic Dissection
Weitie Wang, Qing Liu, Yong Wang, Hulin Piao, Zhicheng Zhu, Dan Li, Tiance Wang, Kexiang Liu
J Am Heart Assoc. 2021 May 4; 10(9): e018062. Published online 2021 Apr 29. doi: 10.1161/JAHA.120.018062
PMCID:
PMC8200748
AbstractArticlePDF–2.7M
13.
The Smooth Muscle γ-Actin Gene Is Androgen Responsive in Prostate Epithelia
R. A. Fillmore, D. A. Dean, W. E. Zimmer
Gene Expr. 2002; 10(5-6): 201–211. Published online 2018 May 31. doi: 10.3727/000000002783992424
PMCID:
PMC5977519
AbstractArticlePDF–550K
14.
Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.
T Miwa, Y Manabe, K Kurokawa, S Kamada, N Kanda, G Bruns, H Ueyama, T Kakunaga
Mol Cell Biol. 1991 Jun; 11(6): 3296–3306. doi: 10.1128/mcb.11.6.3296
PMCID:
PMC360182
SummaryPage BrowsePDF–2.1M
15.
RNA Polymerase II Accumulation in the Promoter-Proximal Region of the Dihydrofolate Reductase and γ-Actin Genes
Chonghui Cheng, Phillip A. Sharp
Mol Cell Biol. 2003 Mar; 23(6): 1961–1967. doi: 10.1128/MCB.23.6.1961-1967.2003
PMCID:
PMC149466
AbstractArticlePDF–211K
16.
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations
Minttu Marttila, Mubashir Hanif, Elina Lemola, Kristen J Nowak, Jenni Laitila, Mikaela Grönholm, Carina Wallgren-Pettersson, Katarina Pelin
Skelet Muscle. 2014; 4: 15. Published online 2014 Aug 1. doi: 10.1186/2044-5040-4-15
PMCID:
PMC4126377
AbstractArticlePDF–2.0M
17.
TNF-α Suppresses α-Smooth Muscle Actin Expression in Human Dermal Fibroblasts: An Implication for Abnormal Wound Healing
Mytien T. Goldberg, Yuan-Ping Han, Chunli Yan, Michael C. Shaw, Warren L. Garner
J Invest Dermatol. Author manuscript; available in PMC 2008 May 5.
Published in final edited form as: J Invest Dermatol. 2007 Nov; 127(11): 2645–2655. Published online 2007 May 31. doi: 10.1038/sj.jid.5700890
PMCID:
PMC2366884
AbstractArticlePDF–1.4M
18.
Synaptodendritic recovery following HIV-1 Tat exposure: Neurorestoration by phytoestrogens
SJ Bertrand, CF Mactutus, MV Aksenova, TD Espensen-Sturges, RM Booze
J Neurochem. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: J Neurochem. 2014 Jan; 128(1): 140–151. Published online 2013 Aug 26. doi: 10.1111/jnc.12375
PMCID:
PMC4041987
AbstractArticlePDF–1.4M
19.
HIV-1 Tat Protein Variants: Critical Role for the Cysteine Region in Synaptodendritic Injury
Sarah J. Bertrand, Marina V. Aksenova, Charles F. Mactutus, Rosemarie M. Booze
Exp Neurol. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Exp Neurol. 2013 Oct; 248: 228–235. Published online 2013 Jun 26. doi: 10.1016/j.expneurol.2013.06.020
PMCID:
PMC3773475
AbstractArticlePDF–1.5M
20.
Retroviral Assembly and Budding Occur through an Actin-Driven Mechanism
Micha Gladnikoff, Eyal Shimoni, Nir S. Gov, Itay Rousso
Biophys J. 2009 Nov 4; 97(9): 2419–2428. doi: 10.1016/j.bpj.2009.08.016
PMCID:
PMC2770610
AbstractArticlePDF–1.6M

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