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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
the presented study demonstrates that CBFB-MYH11-based MRD status during the first 3 months after allo-HCT, but not KIT mutations, can be used to identify patients with a high risk of relapse. PMID: 27650511
In patients with MYH11 or ACTA2 variants, the effect of intronic variants on splicing was demonstrated on the mRNA level in the induced smooth muscle cell (SMC), allowing classification into pathogenic or nonpathogenic variants. PMID: 28074631
Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees. PMID: 26056961
Data suggest that expression of MYH11, myosin light chain, and MLCK (myosin-light-chain kinase), is up-regulated in uterine myoma as compared to adjacent smooth muscle cells; expression of MYH11 appears to be involved in cell proliferation. PMID: 25181625
In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS. PMID: 26017485
CBFB contributes to the transcriptional regulation of ribosomal gene expression and provide further understanding of the epigenetic role of CBFB-SMMHC in proliferation and maintenance of the leukemic phenotype. PMID: 25079347
we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement in acute myeloid leukemia the expression of which correlated with PBX3 differential methylation PMID: 25266220
overexpression of MYH11 can lead to increased ER stress and autophagy PMID: 24711452
MYH11 gene mutation is associated with family history of thoracic aortic aneurysm dissection. PMID: 24921172
Transcriptional analysis revealed that upon fusion protein knockdown, a small subset of the CBFbeta-MYH11 target genes show increased expression, confirming a role in transcriptional repression PMID: 24002588
MYH11 mutations are rare and are identified in patients with thoracic aortic aneurysm/dissection. PMID: 21937134
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. PMID: 22968129
We conclude that non-type A CBFB-MYH11 fusion types associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile in acute myeloid leukemia PMID: 23160462
Our data indicate that the CBFbeta-SMMHC's C-terminus is essential to induce embryonic hematopoietic defects and leukemogenesis. PMID: 23152542
A rare variant in MYH11, R247C, alters myosin contractile function and smooth muscle cell phenotype, leading to increased proliferation in vitro and in response to vascular injury. PMID: 22511748
Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations. PMID: 22001912
increased MYH11 expression was found in aortic tissues from TAAD patients with 16p13.1 duplications compared with control aortas. PMID: 21698135
Data show that the purified hMDCs cultured in SMIM for 4 weeks and expressed significant amount of smooth muscle myosin heavy chain and alpha-smooth muscle actin. PMID: 20132408
Data suggest that that hASMCs contain a significant pool of functional SMM in the 10S conformation that can assemble into filaments upon changing cellular conditions. PMID: 21205888
CBFB-MYH11 rearrangement is associated with acute myeloid leukemia. PMID: 20508610
leukemogenic fusion gene (with Cbfb) plays a role in hematopoiesis PMID: 12239155
Plag1 and Plagl2 are novel leukemia oncogenes that act by expanding hematopoietic progenitors expressing CbF beta-SMMHC. PMID: 15585652
Human MYH11 gene mutations provide the first example of a direct change in a specific smooth muscle cell protein leading to an inherited arterial diseases PMID: 16444274
Detection of acute myeloid leukemic cells that are characterized by a CBFB-MYH11 gene fusion. PMID: 16502584
These observations suggest that when abdominal GS is diagnosed, an analysis of the CBFB/MYH11 fusion gene is necessary to make an appropriate decision regarding treatment options, even if no chromosomal abnormalities are found. PMID: 16504290
Agents interacting with the outer surface of the CBFbeta-SMMHC ACD that prevent multimerization may be effective as novel therapeutics in AML PMID: 16767164
Rare fusion transcripts were correlated with an atypical cytomorphology not primarily suggestive for the FAB subtype acute myelocytic leukemia. PMID: 17287858
Examine consequences of expression of abnormal chimeric protein CBFbeta-MYH11 in acute myelomonocytic leukemia. PMID: 17571080
MYH11 mutations are likely to be specific to the phenotype of thoracic aortic aneurysms and dissections associated with patent ductus arteriosus and result in a distinct aortic and occlusive vascular pathology potentially driven by IGF-1 and Ang II. PMID: 17666408
MYH11 gene is involved in only rare instances when persistent patency of the arterial duct occurs in sporadic fashion. PMID: 17956658
MYH11 mutations in patients with colorectal cancer, Peutz-Jeghers syndrome and juvenile polyposis . PMID: 18391202
Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers PMID: 18796164
three novel amino acid substitutions in MYH11 in AML samples, located in the highly conserved myosin head and rod essential for motor function and regulation of MYH11 PMID: 18798114
MYH11 mutation is not required for early hereditary nonpolyposis colorectal cancer adenoma formation, but it is selected for in the process of microsattelite instability positive cancer tumorigenesis. PMID: 18941465
Selective overexpression of airway smooth muscle genes in asthmatic airways leads to increased Vmax, thus contributing to the airway hyperresponsiveness observed in asthma. PMID: 19011151
sequence deletion in Pseudoxanthoma elasticum PMID: 11439001
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相關疾病:
Aortic aneurysm, familial thoracic 4 (AAT4)
亞細胞定位:
Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.
蛋白家族:
TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
組織特異性:
Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles.