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Items: 1 to 20 of 80

1.
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien
Mol Genet Genomic Med. 2021 Nov; 9(11): e1814. Published online 2021 Oct 21. doi: 10.1002/mgg3.1814
PMCID:
PMC8606209
AbstractArticlePDF–611K
2.
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family
Qin Wang, Jianming Zhang, Hui Wang, Qing Feng, Fuwei Luo, Jiansheng Xie
J Hum Genet. 2019; 64(11): 1067–1073. Published online 2019 Aug 19. doi: 10.1038/s10038-019-0651-z
PMCID:
PMC6760584
AbstractArticlePDF–686K
3.
Overexpression of Smooth Muscle Myosin Heavy Chain Leads to Activation of the Unfolded Protein Response and Autophagic Turnover of Thick Filament-associated Proteins in Vascular Smooth Muscle Cells
Callie S. Kwartler, Jiyuan Chen, Dhananjay Thakur, Shumin Li, Kedryn Baskin, Shanzhi Wang, Zhao V. Wang, Lori Walker, Joseph A. Hill, Henry F. Epstein, Heinrich Taegtmeyer, Dianna M. Milewicz
J Biol Chem. 2014 May 16; 289(20): 14075–14088. Published online 2014 Apr 7. doi: 10.1074/jbc.M113.499277
PMCID:
PMC4022877
AbstractArticlePDF–3.8M
4.
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
Magdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, Ruben van't Slot, Martin Poot, Isaac J Nijman, Jelena Medic, Irene Joziasse, Jaap Deckers, Jolien W Roos-Hesselink, Marja W Wessels, Hubert F Baars, Marjan M Weiss, Gerard Pals, Lisa Golmard, Xavier Jeunemaitre, Dick Lindhout, Edwin Cuppen, Annette F Baas
Eur J Hum Genet. 2013 May; 21(5): 487–493. Published online 2012 Sep 12. doi: 10.1038/ejhg.2012.206
PMCID:
PMC3641382
AbstractArticlePDF–1.0M
5.
Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections
Shao-Qing Kuang, Dong-Chuan Guo, Siddharth K. Prakash, Merry-Lynn N. McDonald, Ralph J. Johnson, Min Wang, Ellen S. Regalado, Ludivine Russell, Jiu-Mei Cao, Callie Kwartler, Kurt Fraivillig, Joseph S. Coselli, Hazim J. Safi, Anthony L. Estrera, Suzanne M. Leal, Scott A. LeMaire, John W. Belmont, Dianna M. Milewicz, GenTAC Investigators
PLoS Genet. 2011 Jun; 7(6): e1002118. Published online 2011 Jun 16. doi: 10.1371/journal.pgen.1002118
PMCID:
PMC3116911
AbstractArticlePDF–1.6M
6.
Direct evidence for functional smooth muscle myosin II in the 10S self-inhibited monomeric conformation in airway smooth muscle cells
Deanna L. Milton, Amy N. Schneck, Dominique A. Ziech, Mariam Ba, Kevin C. Facemyer, Andrew J. Halayko, Jonathan E. Baker, William T. Gerthoffer, Christine R. Cremo
Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4): 1421–1426. Published online 2011 Jan 4. doi: 10.1073/pnas.1011784108
PMCID:
PMC3029703
AbstractArticlePDF–980K
7.
Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome
N Vickaryous, G Polanco-Echeverry, S Morrow, N Suraweera, H Thomas, I Tomlinson, A Silver
Br J Cancer. 2008 Nov 4; 99(10): 1726–1728. Published online 2008 Oct 21. doi: 10.1038/sj.bjc.6604737
PMCID:
PMC2584943
AbstractArticlePDF–69K
8.
Somatic mutation analysis of MYH11 in breast and prostate cancer
Pia Alhopuro, Auli Karhu, Robert Winqvist, Kati Waltering, Tapio Visakorpi, Lauri A Aaltonen
BMC Cancer. 2008; 8: 263. Published online 2008 Sep 17. doi: 10.1186/1471-2407-8-263
PMCID:
PMC2562392
AbstractArticlePDF–223K
9.
Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression
Jianhua Wang, Ping Xu, Yanping Hao, Tingting Yu, Limin Liu, Yan Song, Yan Li
BMC Cancer. 2021; 21: 914. Published online 2021 Aug 12. doi: 10.1186/s12885-021-08653-3
PMCID:
PMC8359574
AbstractArticlePDF–13M
10.
Incidental identification of inv(16)(p13.1q22)/CBFB–MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapy
Andrés E. Quesada, Rajyalakshmi Luthra, Elias Jabbour, Keyur P. Patel, Joseph D. Khoury, Zhenya Tang, Hector Alvarez, Saradhi Mallampati, Guillermo Garcia-Manero, Guillermo Montalban-Bravo, L. Jeffrey Medeiros, Rashmi Kanagal-Shamanna
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006084. doi: 10.1101/mcs.a006084
PMCID:
PMC8208042
AbstractArticlePDF–12M
11.
Identification of 2 Potential Core Genes for Influence of Gut Probiotics on Formation of Intracranial Aneurysms by Bioinformatics Analysis
Heng-Jian Liu, Huan-Ting Li, Yuan Lin, Dong-Lin Lu, Yong Yue, Jing Xiong, Cong-Qin Li, Xiang-Yu Xu, Yu-Gong Feng
Med Sci Monit. 2020; 26: e920754-1–e920754-15. Prepublished online 2020 Jan 22. Published online 2020 Mar 6. doi: 10.12659/MSM.920754
PMCID:
PMC7077060
AbstractArticlePDF–2.7M
12.
Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report
Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou
BMC Med Genet. 2018; 19: 208. Published online 2018 Dec 7. doi: 10.1186/s12881-018-0728-0
PMCID:
PMC6286578
AbstractArticlePDF–999K
13.
Core Binding Factor β (CBFβ) and the Leukemogenic Fusion Protein CBFβ-Smooth Muscle Myosin Heavy Chain (SMMHC) Associate with Mitotic Chromosomes to Epigenetically Regulate Ribosomal Gene Expression
Cesar Lopez-Camacho, Andre J. van Wijnen, Jane B. Lian, Janet L. Stein, Gary S. Stein
J Cell Biochem. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: J Cell Biochem. 2014 Dec; 115(12): 2155–2164. doi: 10.1002/jcb.24892
PMCID:
PMC4199869
AbstractArticlePDF–1.4M
14.
Characterization of smooth muscle differentiation of purified human skeletal muscle-derived cells
Shing-Hwa Lu, Alex TL Lin, Kuang-Kuo Chen, Han Sun Chiang, Luke S Chang
J Cell Mol Med. 2011 Mar; 15(3): 587–592. Published online 2010 Jan 28. doi: 10.1111/j.1582-4934.2010.01017.x
PMCID:
PMC3922380
AbstractArticlePDF–592K
15.
Unregulated smooth-muscle myosin in human intestinal neoplasia
Pia Alhopuro, Denis Phichith, Sari Tuupanen, Heli Sammalkorpi, Miranda Nybondas, Juha Saharinen, James P. Robinson, Zhaohui Yang, Li-Qiong Chen, Torben Orntoft, Jukka-Pekka Mecklin, Heikki Järvinen, Charis Eng, Gabriela Moeslein, Darryl Shibata, Richard S. Houlston, Anneke Lucassen, Ian P. M. Tomlinson, Virpi Launonen, Ari Ristimäki, Diego Arango, Auli Karhu, H. Lee Sweeney, Lauri A. Aaltonen
Proc Natl Acad Sci U S A. 2008 Apr 8; 105(14): 5513–5518. Published online 2008 Apr 7. doi: 10.1073/pnas.0801213105
PMCID:
PMC2291082
AbstractArticlePDF–561K
16.
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women
Elizabeth E. Blue, Timothy A. Thornton, Charles Kooperberg, Simin Liu, Jean Wactawski-Wende, JoAnn Manson, Lew Kuller, Kathleen Hayden, Alexander P. Reiner
Alzheimers Dement. Author manuscript; available in PMC 2022 Feb 1.
Published in final edited form as: Alzheimers Dement. 2021 Feb; 17(2): 215–225. Published online 2020 Sep 23. doi: 10.1002/alz.12181
PMCID:
PMC7920533
AbstractArticlePDF–660K
17.
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm
Koen M. van de Luijtgaarden, Daphne Heijsman, Alessandra Maugeri, Marjan M. Weiss, Hence J. M. Verhagen, Arne IJpma, Hennie T. Brüggenwirth, Danielle Majoor-Krakauer
Hum Genet. 2015; 134(8): 881–893. Published online 2015 May 28. doi: 10.1007/s00439-015-1567-0
PMCID:
PMC4495250
AbstractArticlePDF–478K
18.
CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia
Hana Hájková, Markus Hsi-Yang Fritz, Cedrik Haškovec, Jiří Schwarz, Cyril Šálek, Jana Marková, Zdeněk Krejčík, Michaela Dostálová Merkerová, Arnošt Kostečka, Martin Vostrý, Ota Fuchs, Kyra Michalová, Petr Cetkovský, Vladimír Beneš
J Hematol Oncol. 2014; 7: 66. Published online 2014 Sep 30. doi: 10.1186/s13045-014-0066-4
PMCID:
PMC4197269
AbstractArticlePDF–1.4M
19.
Rare, Non-Synonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11, R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells
Shao-Qing Kuang, Callie S. Kwartler, Katerina L. Byanova, John Pham, Limin Gong, Siddharth K. Prakash, Jian Huang, Kristine E. Kamm, James T. Stull, H. Lee Sweeney, Dianna M. Milewicz
Circ Res. Author manuscript; available in PMC 2014 Feb 7.
Published in final edited form as: Circ Res. 2012 May 25; 110(11): 1411–1422. Published online 2012 Apr 17. doi: 10.1161/CIRCRESAHA.111.261743
PMCID:
PMC3917690
AbstractArticlePDF–1.8M
20.
The C-terminus of CBFβ-SMMHC is required to induce embryonic hematopoietic defects and leukemogenesis
Yasuhiko Kamikubo, R. Katherine Hyde, Ling Zhao, Lemlem Alemu, Cecilia Rivas, Lisa J. Garrett, P. Paul Liu
Blood. 2013 Jan 24; 121(4): 638–642. Prepublished online 2012 Nov 14. doi: 10.1182/blood-2012-06-434688
PMCID:
PMC3557645
AbstractArticle

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