Myosin Heavy Chain 11, Smooth Muscle Proteins (MYH11)

Mouse (Murine) Myosin Heavy Chain 11, Smooth Muscle (MYH11) interaction partners

1. Results indicatethat the defect of smooth muscle myosin heavy chain (SM-MHC) lead to the bladder developing lesions initially at 15.5 dpc stage and also implied that the SM-MHC loss might result in the gas bubbles in stomach.

2. Force development responses were reduced in aortic tissue from a conditional knockout of smooth muscle myosin heavy chain in adult mice (Myh11+/- or Myh11-/-) with a greater reduction with homozygous vs heterozygous tissues. Similar reductions in force responses were obtained with tissues containing either a heterozygous or homozygous knockin mutation in smooth muscle myosin heavy chain (Myh11+/R247C or Myh11R247C/R247C).

3. Chd7 deficiency delays leukemia initiation induced by Cbfb-MYH11.

4. Cbfbeta-SMMHC and Nras(G12D) promote the survival of preleukemic myeloid progenitors primed for leukemia by activation of the MEK/ERK/Bim axis, and define Nras(LSL-G12D); Cbfb(56M) mice as a valuable genetic model for the study of AML therapies.

5. 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.

6. Data show the cooperation between mutated KIT and CBFB-MYH11 during leukemogenesis

7. Cbfb/Runx1 repression-independent activities contribute to leukemogenesis by Cbfb-MYH11

8. Myh11 complexes with Cbfb and inhibits the cell cycle.

9. report the identification of genes that specifically cooperate with CBFB-MYH11 in leukemogenesis

10. Force dilatation pressure was decreased in smooth muscle B mysoin null mesenteric vessels. (Myosin B))

11. provides a mechanistic basis for the myeloid-lineage bias of CBFbeta-SMMHC-associated leukemia

12. Germ line activation of theSMMHC promoters causes noncell-specific deletion of floxed alleles.

13. Runx2 is expressed in the stem cell compartment, interferes with differentiation and represses CBF targets in the myeloid compartment, and modulates the leukemogenic function of Cbfbeta-SMMHC in mouse leukemia.

Human Myosin Heavy Chain 11, Smooth Muscle (MYH11) interaction partners

1. Our results show that MYH11 gene harbors somatic frameshift mutations mostly associated with mutational intratumoral heterogeneity , which together may be features of microsatellite instability gastric cancers and colorectal cancers.

2. Novel variants in the ACTA2 and MYH11 genes was identified in a Cypriot family with thoracic aortic aneurysms.

3. 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.

4. 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.

5. Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees.

6. 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.

7. In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS.

8. 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.

9. 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

10. overexpression of MYH11 can lead to increased ER stress and autophagy

11. MYH11 gene mutation is associated with family history of thoracic aortic aneurysm dissection.

12. 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

13. MYH11 mutations are rare and are identified in patients with thoracic aortic aneurysm/dissection.

14. Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

15. 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

16. Our data indicate that the CBFbeta-SMMHC's C-terminus is essential to induce embryonic hematopoietic defects and leukemogenesis.

17. 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.

18. 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.

19. increased MYH11 expression was found in aortic tissues from TAAD patients with 16p13.1 duplications compared with control aortas.

20. 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.

Zebrafish Myosin Heavy Chain 11, Smooth Muscle (MYH11) interaction partners

1. newly identified missense mutations in the switch-1 (S237Y) and coil-coiled (L1287M) domains of Myh11 fail to complement mlt Cell invasion was not detected in either homozygous mutant but could be induced by oxidative stress and activation of oncogenic signaling pathways.

2. The mlt mutation constitutively activates the Myh11 ATPase, which disrupts smooth muscle cells surrounding the posterior intestine.