PMC Links for Gene (Select 60) - PMC

Mizuki Matsuzaki, Ikuko Fujiwara, Sae Kashima, Tomoharu Matsumoto, Toshiro Oda, Masahito Hayashi, Kayo Maeda, Kingo Takiguchi, Yuichiro Maéda, Akihiro Narita

Biomolecules. 2020 May; 10(5): 736. Published online 2020 May 8. doi: 10.3390/biom10050736

PMCID:: PMC7277580

Article PDF–3.2M

Select item 71550014.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Matthias Baumann, Erin M. Beaver, María Palomares‐Bralo, Fernando Santos‐Simarro, Peter Holzer, Gundula Povysil, Thomas Müller, Taras Valovka, Andreas R. Janecke

Hum Mutat. 2020 Apr; 41(4): 753–758. Published online 2020 Jan 16. doi: 10.1002/humu.23970

PMCID:: PMC7155001

Article PDF–789K

Select item 71131415.

The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population

Song Yang, Yanping Zhao, Xiaotian Chen, Xiangfeng Lu, Yanchun Chen, Xianghai Zhao, Lijun Zhu, Zhengmei Fang, Hailong Zhao, Yingshui Yao, Chunlan Liu, Chong Shen

J Atheroscler Thromb. 2020 Mar 1; 27(3): 226–244. doi: 10.5551/jat.49536

PMCID:: PMC7113141

Article PDF–631K

Select item 61859416.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

Nat Commun. 2018; 9: 4250. Published online 2018 Oct 12. doi: 10.1038/s41467-018-06713-0

Correction in:: Nat Commun. 2018; 9: 4930.

PMCID:: PMC6185941

Article PDF–11M

Select item 58128967.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate E. Chandler, Neil A. Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C. Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T. Ma, Ruth McGowan, Maryse Des Medt, James O’Sullivan, Sylvie Odent, Michael J. Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah R. Zahir, The DDD Study, Adrian S. Woolf, Siddharth Banka

Am J Hum Genet. 2017 Dec 7; 101(6): 1021–1033. Published online 2017 Dec 7. doi: 10.1016/j.ajhg.2017.11.006

PMCID:: PMC5812896

Article PDF–2.4M

Select item 53168398.

Self-organizing actin patterns shape membrane architecture but not cell mechanics

M. Fritzsche, D. Li, H. Colin-York, V. T. Chang, E. Moeendarbary, J. H. Felce, E. Sezgin, G. Charras, E. Betzig, C. Eggeling

Nat Commun. 2017; 8: 14347. Published online 2017 Feb 13. doi: 10.1038/ncomms14347

PMCID:: PMC5316839

Article PDF–5.9M

Select item 46999059.

Roles of Asp179 and Glu270 in ADP-Ribosylation of Actin by Clostridium perfringens Iota Toxin

Alexander Belyy, Irina Tabakova, Alexander E. Lang, Thomas Jank, Yury Belyi, Klaus Aktories

PLoS One. 2015; 10(12): e0145708. Published online 2015 Dec 29. doi: 10.1371/journal.pone.0145708

PMCID:: PMC4699905

Article PDF–1.1M

Select item 377069910.

Actin Cytoskeleton Regulates Hippo Signaling

Pradeep Reddy, Masashi Deguchi, Yuan Cheng, Aaron J. W. Hsueh

PLoS One. 2013; 8(9): e73763. Published online 2013 Sep 11. doi: 10.1371/journal.pone.0073763

Correction in:: PLoS One. 2013; 8(9): 10.1371/annotation/ea0f1c59-8ed0-4870-9dab-7afd2ca63328.

PMCID:: PMC3770699

Article PDF–2.4M

Select item 360850611.

Visualization of actin filaments and monomers in somatic cell nuclei

Brittany J. Belin, Beth A. Cimini, Elizabeth H. Blackburn, R. Dyche Mullins

Mol Biol Cell. 2013 Apr 1; 24(7): 982–994. doi: 10.1091/mbc.E12-09-0685

PMCID:: PMC3608506

Article PDF–3.3M

Select item 270473912.

Chromatin Structure Is Implicated in “Late” Elongation Checkpoints on the U2 snRNA and β-Actin Genes

Sylvain Egloff, Hadeel Al-Rawaf, Dawn O'Reilly, Shona Murphy

Mol Cell Biol. 2009 Jul; 29(14): 4002–4013. Published online 2009 May 18. doi: 10.1128/MCB.00189-09

PMCID:: PMC2704739

Article PDF–2.7M

Select item 228933213.

Direct proof that the primary site of action of cytochalasin on cell motility processes is actin

J Cell Biol. 1992 Feb 2; 116(4): 933–941. doi: 10.1083/jcb.116.4.933

PMCID:: PMC2289332

Summary PDF–1.0M

Select item 212039914.

A posttranslational modification of beta-actin contributes to the slow dissociation of the spectrin-protein 4.1-actin complex of irreversibly sickled cells

J Cell Biol. 1995 Mar 1; 128(5): 805–818. doi: 10.1083/jcb.128.5.805

PMCID:: PMC2120399

Summary PDF–2.5M

Select item 147410115.

A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia

Vincent Procaccio, Gloria Salazar, Shoichiro Ono, Melanie L. Styers, Marla Gearing, Antonio Davila, Richard Jimenez, Jorge Juncos, Claire-Anne Gutekunst, Germana Meroni, Bianca Fontanella, Estelle Sontag, Jean Marie Sontag, Victor Faundez, Bruce H. Wainer

Am J Hum Genet. 2006 Jun; 78(6): 947–960. Published online 2006 Apr 21. doi: 10.1086/504271