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Select item 109654391.

Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model

Wulan Apridita Sebastian, Masanori Inoue, Nobuyuki Shimizu, Ryosuke Sato, Saori Oguri, Tomoyo Itonaga, Shintaro Kishimoto, Hiroshi Shiraishi, Toshikatsu Hanada, Kenji Ihara

J Hum Genet. 2024; 69(3-4): 133–138. Published online 2024 Feb 5. doi: 10.1038/s10038-024-01221-0

PMCID:: PMC10965439

Article PDF–2.2M

Select item 106948832.

A highly penetrant ACTA2 mutation of thoracic aortic disease

Christopher M. Bobba, Ryan Azarrafiy, John R. Spratt, Jill Hendrickson, Tomas D. Martin, George J. Arnaoutakis, Eric I. Jeng, Thomas M. Beaver

J Cardiothorac Surg. 2023; 18: 352. Published online 2023 Dec 4. doi: 10.1186/s13019-023-02420-0

PMCID:: PMC10694883

Article PDF–870K

Select item 101731463.

ACTA2 expression predicts survival and is associated with response to immune checkpoint inhibitors in gastric cancer

Sunho Park, John D. Karalis, Changjin Hong, Jean R. Clemenceau, Matthew R. Porembka, In-Ho Kim, Sung Hak Lee, Sam C. Wang, Jae-Ho Cheong, Tae Hyun Hwang

Clin Cancer Res. Author manuscript; available in PMC 2023 Sep 14.

Published in final edited form as: Clin Cancer Res. 2023 Mar 14; 29(6): 1077–1085. doi: 10.1158/1078-0432.CCR-22-1897

PMCID:: PMC10173146

Article PDF–1.4M

Select item 92832814.

Expanding ACTA2 Genotypes with Corresponding Phenotypes Overlapping with Smooth Muscle Dysfunction Syndrome

Anita Kaw, Kaveeta Kaw, Ellen M. Hostetler, Ana Beleza-Meireles, Adam Smith-Collins, Catherine Armstrong, Ingrid Scurr, Timothy Cotts, Rajani Aatre, Michael J. Bamshad, Dawn Earl, Abraham Groner, Katherine Agre, Yehuda Raveh, Callie S. Kwartler, Montalcino Aortic Consortium, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2389–2396. Published online 2022 May 14. doi: 10.1002/ajmg.a.62775

PMCID:: PMC9283281

Article PDF–781K

Select item 87575595.

S. Subramanian, A. Biswas, C.A.P.F. Alves, S.V. Sudhakar, K.V. Shekdar, P. Krishnan, M. Shroff, A. Taranath, F. Arrigoni, K.A. Aldinger, R.J. Leventer, W.B. Dobyns, K. Mankad

AJNR Am J Neuroradiol. 2022 Jan; 43(1): 146–150. doi: 10.3174/ajnr.A7364

PMCID:: PMC8757559

Article PDF–1.3M

Select item 85800796.

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China

Jinjie Li, Liu Yang, Yanjun Diao, Lei Zhou, Yijuan Xin, Liqing Jiang, Rui Li, Juan Wang, Weixun Duan, Jiayun Liu

Mol Genet Genomic Med. 2021 Oct; 9(10): e1800. Published online 2021 Sep 8. doi: 10.1002/mgg3.1800

PMCID:: PMC8580079

Article PDF–786K

Select item 85759437.

A deep learning approach to identify and segment alpha-smooth muscle actin stress fiber positive cells

Alexander Hillsley, Javier E. Santos, Adrianne M. Rosales

Sci Rep. 2021; 11: 21855. Published online 2021 Nov 8. doi: 10.1038/s41598-021-01304-4

PMCID:: PMC8575943

Article PDF–3.0M

Select item 79057858.

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

Arne Lauer, Samantha L. Speroni, Jay B. Patel, Ellen Regalado, Myoung Choi, Edward Smith, Jayashree Kalpathy-Kramer, Paul Caruso, Dianna M. Milewicz, Patricia L. Musolino

Neurology. 2021 Jan 26; 96(4): e538–e552. doi: 10.1212/WNL.0000000000011210

PMCID:: PMC7905785

Article PDF–1.2M

Select item 70385939.

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen

BMC Ophthalmol. 2020; 20: 68. Published online 2020 Feb 24. doi: 10.1186/s12886-020-01344-w

PMCID:: PMC7038593

Article PDF–8.5M

Select item 603499910.

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C. Braverman, Lesley Ades, Susan Benedict, Timothy J. Bradley, M. Elizabeth Brickner, Kathryn C. Chatfield, Anne Child, Cori Feist, Kathryn W. Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A. Morris, Anna L. Mitchell, John R. Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Montalcino Aortic Consortium, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M. Milewicz

Genet Med. Author manuscript; available in PMC 2018 Nov 22.

Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1206–1215. Published online 2018 Jan 4. doi: 10.1038/gim.2017.245

PMCID:: PMC6034999

Article PDF–550K

Select item 571551711.

ACTA2 mutation and postpartum hemorrhage: a case report

Kylie Cooper, Stephen Brown

BMC Med Genet. 2017; 18: 143. Published online 2017 Dec 4. doi: 10.1186/s12881-017-0505-5

PMCID:: PMC5715517

Article PDF–348K

Select item 551474012.

Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts

Zhenan Liu, Audrey N. Chang, Frederick Grinnell, Kathleen M. Trybus, Dianna M. Milewicz, James T. Stull, Kristine E. Kamm

Proc Natl Acad Sci U S A. 2017 Jul 11; 114(28): E5569–E5578. Published online 2017 Jun 26. doi: 10.1073/pnas.1703506114

PMCID:: PMC5514740

Article PDF–2.5M

Select item 507684113.

Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin

Hailong Lu, Patricia M. Fagnant, Elena B. Krementsova, Kathleen M. Trybus

J Biol Chem. 2016 Oct 7; 291(41): 21729–21739. Published online 2016 Aug 22. doi: 10.1074/jbc.M116.744011

PMCID:: PMC5076841

Article PDF–1.3M

Select item 495023814.

Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm

Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu, Tucheng Sun

BMC Med Genet. 2016; 17: 45. Published online 2016 Jul 18. doi: 10.1186/s12881-016-0310-6

PMCID:: PMC4950238

Article PDF–2.8M

Select item 476255715.

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies

Shi-Min Yuan

Braz J Cardiovasc Surg. 2015 Nov-Dec; 30(6): 644–649. doi: 10.5935/1678-9741.20150081

PMCID:: PMC4762557

Article PDF–96K

Select item 460164116.

Aortic Disease Presentation and Outcome Associated with ACTA2 mutations

Ellen S. Regalado, Dongchuan Guo, Siddharth Prakash, Tracy A. Bensend, Kelly Flynn, Anthony Estrera, Hazim Safi, David Liang, James Hyland, Anne Child, Gavin Arno, Catherine Boileau, Guillaume Jondeau, Alan Braverman, Rocio Moran, Takayuki Morisaki, Hiroko Morisaki, Montalcino Aortic Consortium, Reed Pyeritz, Joseph Coselli, Scott LeMaire, Dianna M. Milewicz

Circ Cardiovasc Genet. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Circ Cardiovasc Genet. 2015 Jun; 8(3): 457–464. Published online 2015 Mar 10. doi: 10.1161/CIRCGENETICS.114.000943