Results 21 to 30 of about 10,859 (138)

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

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
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   +11 more
doaj   +1 more source

Somatic mutation analysis of MYH11 in breast and prostate cancer

BMC Cancer, 2008
Background MYH11 (also known as SMMHC) encodes the smooth-muscle myosin heavy chain, which has a key role in smooth muscle contraction. Inversion at the MYH11 locus is one of the most frequent chromosomal aberrations found in acute myeloid leukemia.
Waltering Kati, Winqvist Robert, Karhu Auli, Alhopuro Pia, Visakorpi Tapio, Aaltonen Lauri A   +5 more
doaj   +1 more source

Prospective evaluation of prognostic impact of KIT mutations on acute myeloid leukemia with RUNX1-RUNX1T1 and CBFB-MYH11

Blood Advances, 2020
: The prognostic impact of KIT mutation on core-binding factor acute myeloid leukemia (CBF-AML) remains controversial. We registered 199 newly diagnosed de novo CBF-AML patients, aged 16 to 64 years, who achieved complete remission.
Yuichi Ishikawa, Naomi Kawashima, Yoshiko Atsuta, Isamu Sugiura, Masashi Sawa, Nobuaki Dobashi, Hisayuki Yokoyama, Noriko Doki, Akihiro Tomita, Toru Kiguchi, Shiro Koh, Heiwa Kanamori, Noriyoshi Iriyama, Akio Kohno, Yukiyoshi Moriuchi, Noboru Asada, Daiki Hirano, Kazuto Togitani, Toru Sakura, Maki Hagihara, Tatsuki Tomikawa, Yasuhisa Yokoyama, Norio Asou, Shigeki Ohtake, Itaru Matsumura, Yasushi Miyazaki, Tomoki Naoe, Hitoshi Kiyoi   +27 more
doaj   +1 more source

Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish

Disease Models & Mechanisms, 2016
Smooth muscle contraction is controlled by the regulated activity of the myosin heavy chain ATPase (Myh11). Myh11 mutations have diverse effects in the cardiovascular, digestive and genitourinary systems in humans and animal models.
Joshua Abrams, Zev Einhorn, Christoph Seiler, Alan B. Zong, H. Lee Sweeney, Michael Pack   +5 more
doaj   +1 more source

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review

Molecular Cytogenetics, 2020
Background Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival (OS) when ...
Lili Lv, Jingwei Yu, Zhongxia Qi
doaj   +1 more source

Molecular dissection of a hyper-aggressive CBFB-MYH11/FLT3-ITD–positive acute myeloid leukemia

Journal of Translational Medicine, 2022
Acute Myeloid Leukaemia (AML) is a haematological malignancy showing a hypervariable landscape of clinical outcomes and phenotypic differences, explainable by heterogeneity at the cellular and molecular level.
Gabriele Lo Iudice, Eleonora De Bellis, Arianna Savi, Luca Guarnera, Alice Massacci, Francesca De Nicola, Frauke Goeman, Tiziana Ottone, Mariadomenica Divona, Matteo Pallocca, Maurizio Fanciulli, Maria Teresa Voso, Gennaro Ciliberto   +12 more
doaj   +1 more source

AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome

Hematology, 2022
Objectives Acute myeloid leukemia (AML) with inv(16)/t(16;16) is among the most frequent AML subtypes. It is recognized by the detection of the CBFB-MYH11 fusion which confers a favorable prognosis, irrespective of the presence of secondary cytogenetic ...
Nada Assaf, Christine Lefebvre, Victoria Raggueneau, Geoffroy Guignedoux, Alice Marceau-Renaut, Simon Chevalier, Sylvie Tondeur, Dominique Bories, Riad Benramdane, Philippe Rousselot, Christine Terré   +10 more
doaj   +1 more source

Integrated Single‐Nucleus Multi‐Omics Atlases Reveal Lineage Plasticity and Regulatory Networks of Luminal Epithelial Cells During Mammary Gland Lactation and Involution

Advanced Science, EarlyView.
This study integrates single‐cell multi‐omics, spatial transcriptomics, and cross‐species comparative analyses to systematically characterize the cellular composition and differentiation trajectories of goat mammary epithelial cells, along with the gene regulatory networks and intercellular communication mechanisms governing these trajectories, thereby
Xiaoru Yan, Xiaoyu Mi, Guanghui Tan, Xinmei Li, Zhenliang Zhu, Zhenyu Wei, Huimei Fan, Yamei Wu, Tao Shi, Lingzhao Fang, Yuanpeng Gao, Yu Wang, Jun Liu   +12 more
wiley   +1 more source

Transcriptional Regulation of NUPR1 by MYH11 Activates PI3 K/AKT and Promotes Bladder Cancer Progression Through Ferroptosis and M2 Polarization of Macrophages

Technology in Cancer Research & Treatment
Background NUPR1 is a small molecule protein that plays an important role in tumor progression and drug resistance. Our previous study found that NUPR1 promotes the progression of bladder cancer, but the specific mechanism is still unclear. MYH11 encodes
Lifeng Zhang DD, Li Zhang BD, Zebin Shi BD, Yuanyuan Mi DD, Lei Zhang MD, Xiaokai Shi MD, Shenglin Gao DD, Li Zuo DD   +7 more
doaj   +1 more source

Highly Sensitive Spatial Host‐Microbiome Transcriptomics in FFPE Tissues via Iterative Hydrogel Expansion

Advanced Science, EarlyView.
Ex‐spRandom is a spatial transcriptomics platform that synergizes random‐primed chemistry with iterative hydrogel expansion. By physically decrowding the dense FFPE matrix, this scalable technology shatters the traditional resolution‐sensitivity barrier.
Shunji Zhang, Mengyuan Wang, Jiaye Chen, Yuyi Zhu, Bin Zhu, Ziye Xu, Yuan Liao, Yongcheng Wang   +7 more
wiley   +1 more source