Ask about this productRelated genes to: MYH11 antibody
- Gene:
- MYH11 NIH gene
- Name:
- myosin heavy chain 11
- Previous symbol:
- -
- Synonyms:
- SMMHC, SMHC
- Chromosome:
- 16p13.11
- Locus Type:
- gene with protein product
- Date approved:
- 1991-09-13
- Date modifiied:
- 2016-06-22
Related products to: MYH11 antibody
Related articles to: MYH11 antibody
- Thoracic aortic aneurysm (TAA) is a life-threatening vascular condition with limitedpharmacological interventions. This study aimed to identify novel causaldruggable genes and therapeutic candidates for TAA. - Source: PubMed
Publication date: 2026/06/09
Liu YuboLiu JieShi RuizhengTan Liao - 16p13.11 microduplication is a frequently observed chromosomal abnormality in newborns. However, prenatal reports for this chromosome microscopic imbalance are rare in clinical practice. This study aimed to provide a systematic summary of prenatal phenotypes for this genomic disorder. Between April 2019 and May 2023, 10 pregnant women underwent amniocentesis due to fetal ultrasound abnormalities, advanced maternal age, or other prenatal diagnostic indications. After obtaining informed consent, chromosomal microarray analysis and G-banding were performed. Karyotype results were normal for all fetuses except in 2 cases (P2 and P5). Chromosomal microarray analysis detected 0.79 to 1.639 Mb duplications of 16p13.11 (chr16: 14806186-16444739, hg38) in all 10 cases, involving 4 morbid genes (NDE1, MYH11, ABCC1, and ABCC6) in common. Eight women (P1-P8) continued their pregnancies and delivered healthy infants at term, while the parents of cases 9 and 10 terminated their pregnancies. All neonates exhibited good health states without obvious abnormalities observed. The prenatal phenotypes of 16p13.11 duplications were primarily associated with abnormal soft markers, including increased nuchal translucency, ventriculomegaly, and enhanced intestinal echo. However, further evidence is needed to explore prenatal genotype-phenotype correlations. For prenatally diagnosed cases carrying 16p13.11 microduplications, long-term follow-up should be carried out to acquire their postnatal health conditions and growth details. - Source: PubMed
Xu TangfeiYue FaguiGe YaoLiu Ruizhi - Thoracic aortic dissection (TAD) is a life-threatening condition with a significant genetic contribution. This study evaluated the clinical implications of diagnostic screening of 368 TAD patients for (likely) pathogenic (LPP) variants in 23 TAD-associated genes and sought to identify genotype-phenotype correlations. Clinically relevant causative variants were identified in 12.5% of patients. Most patients were explained by LPP variants in FBN1 (n = 13), ACTA2 (n = 8), COL3A1 (n = 6), and TGFBR1 (n = 5), and all identified LPP variants were found in the genes identified by the ClinGen Aortopathy Expert Panel to be definitively or strongly associated with heritable aortopathy. LPP patients had a significantly younger age at dissection and had almost a two-fold increase in risk of dissection at any age compared to those without a rare genetic variant (HR, 1.98; 95% CI, 1.4-2.8; p < 0.001). COL3A1 LPP variant-harboring patients were particularly young, with a median age at dissection of 22 years. Patients with more than one variant of uncertain significance (VUS) experienced dissection at younger ages compared to single VUS-harboring individuals (p = 0.002). Presence of the MYH11 NM_001040113.2:c.3787_3789del (p.Lys1263del) VUS was indicative of a younger age at dissection. In conclusion, our study demonstrated the clinical utility of current genetic testing in TAD patients. Yet, it highlights the need for improved VUS interpretation and their consideration as risk factors. Further improvements in the screening approaches are needed to increase clinical utility and, hence, mitigate TAD morbidity and mortality by identification of at-risk individuals. - Source: PubMed
Publication date: 2026/06/03
Velchev Joe DavisKrebsová AliceVotýpka PavelZoubková VeronikaAmsel Bram JWildiers AntoonVerrijcken AntonLaga StevenGerber Bernhard LYildiz HalilFransen ErikMeester Josephina A NBoeckx NeleAlaerts MaaikeVoorendt MarshaKempers MarliesVan Laer LutLoeys Bart LVerstraeten Aline - The synthetic phenotype of vascular smooth muscle cells (VSMCs) accelerates the progression of atherosclerosis (AS) and plaque erosion (PE). EP4 enhances pro-inflammatory macrophages within plaques and impedes cholesterol efflux. However, evidence for EP4 regulating VSMC phenotypic switching remains weak. This study aims to elucidate the function of EP4 in the phenotypic transformation of VSMCs and its potential molecular mechanisms. - Source: PubMed
Publication date: 2026/06/01
Zhe ChunyangLi YangjieHe MingHe XiaoyanLi ZhuoLi HuiHu YanGao RuiDing Xumeng - Neointimal hyperplasia (NH) is a prominent pathological consequence following vascular injury and is driven in part by aberrant vascular smooth muscle cell (VSMC) proliferation. COP9 signalosome (CSN) subunit 5 (CSN5/JAB1/COPS5) is the deneddylase component of the CSN holocomplex responsible for deneddylation of cullin-RING ligases. Although CSN5/CSN is well studied in cancer biology, the role of CSN5/CSN in NH and vascular biology remain largely unexplored. Here, we investigated whether selective inhibition of CSN5 deneddylase activity using CSN5i-3 could mitigate neointimal remodeling following arterial injury. Adult mice were subjected to daily intraperitoneal injections of CSN5i-3 (20 mg/kg/day) or vehicle and left common carotid artery ligation. The left and the right common carotid arteries were then assessed for VSMC phenotypic modulation and neointima formation after 7 days of treatment. CSN5i-3 treatment markedly attenuated the ligation-induced changes in the mRNA level of , and , genes associated with extracellular matrix deposition and cell-cycle progression but did not alter expression changes of canonical smooth muscle differentiation markers () and in the ligated vessel. Importantly, CSN5i-3 significantly blunted the increases of PCNA expression and Ki67-positive VSMCs and reduced neointimal areas. These findings demonstrate that CSN deneddylase activity is dispensable for the dedifferentiation of contractile VSMCs into the synthetic state but promotes VSMC proliferation, supporting the concept that the dedifferentiation and proliferation of VSMCs in neointimal formation are separately regulated processes and differentially regulated by different CSN actions. This study also indicates that CSN5i-3 is highly promising in preventing neointimal hyperplasia. - Source: PubMed
Publication date: 2026/06/03
Giri SamikshaWang Xuejun