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    MYH11 myosin heavy chain 11 [ Homo sapiens (human) ]

    Gene ID: 4629, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

    Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
    Wei X, Ma Y, Xie B, Gui C, Shi M, Wei X, Huang Y, Fan X, Wei Q, Huang Q, Deng L, Zhang C, Deng X, Gui B, Chen Y., Free PMC Article

    05/29/2024
    Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

    Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
    Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M.

    04/18/2024
    A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.

    A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
    Pan M, Tan X, Sun T, Zhu W, Liu H, Liu Q, Dong H.

    03/19/2024
    Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.

    Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.
    Zhao C, Wang S, Wang K.

    01/28/2023
    [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFbeta-MYH11 Positive].

    [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].
    Jiang Y, Chao HY, Lu XZ, Wu P, Sun XC.

    12/17/2022
    Association of gene polymorphisms in MYH11 and TGF-beta signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.

    Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
    Chang Y, Yuan Q, Jiang P, Sun L, Ma Y, Ma X.

    08/13/2022
    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.

    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.
    Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P., Free PMC Article

    05/21/2022
    TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.

    TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.
    Reckzeh K, Estruch M, Ali M, Søgaard Helbo A, Mosbech A, Jae Won K, Rücker F, Döhner K, Theilgaard-Mönch K.

    04/30/2022
    Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

    Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
    Burger J, Bogunovic N, de Wagenaar NP, Liu H, van Vliet N, IJpma A, Maugeri A, Micha D, Verhagen HJM, Ten Hagen TLM, Majoor-Krakauer D, van der Pluijm I, Essers J, Yeung KK., Free PMC Article

    04/2/2022
    Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.

    Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
    Blue EE, Thornton TA, Kooperberg C, Liu S, Wactawski-Wende J, Manson J, Kuller L, Hayden K, Reiner AP., Free PMC Article

    01/15/2022
    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.

    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.
    Quesada AE, Luthra R, Jabbour E, Patel KP, Khoury JD, Tang Z, Alvarez H, Mallampati S, Garcia-Manero G, Montalban-Bravo G, Medeiros LJ, Kanagal-Shamanna R., Free PMC Article

    12/18/2021
    Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression.

    Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression.
    Wang J, Xu P, Hao Y, Yu T, Liu L, Song Y, Li Y., Free PMC Article

    10/23/2021
    Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

    Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
    Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB.

    07/24/2021
    The Identification of Key Gene Expression Signature in Prostate Cancer.

    The Identification of Key Gene Expression Signature in Prostate Cancer.
    Huang Y, Cao Q, Song Z, Ruan H, Wang K, Chen K, Zhang X.

    07/10/2021
    [The Prognostic Factors for AML Children with CBFbeta/MYH11 Positive].

    [The Prognostic Factors for AML Children with CBFβ/MYH11 Positive].
    Yan M, Song FX, Lu J.

    04/13/2021
    Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.

    Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.
    Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A.

    09/5/2020
    MYH11 and CAV1 were downregulated in aneurysms, and upregulation of these genes was associated with probiotics.

    Identification of 2 Potential Core Genes for Influence of Gut Probiotics on Formation of Intracranial Aneurysms by Bioinformatics Analysis.
    Liu HJ, Li HT, Lin Y, Lu DL, Yue Y, Xiong J, Li CQ, Xu XY, Feng YG., Free PMC Article

    03/21/2020
    The study's results confirmed that MYH11 is a candidate gene for Megacystis-microcolon-intestinal-hypoperistalsis syndrome with autosomal recessive (AR) inheritance and expanded the mutation spectrum for this clinical condition.

    Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
    Wang Q, Zhang J, Wang H, Feng Q, Luo F, Xie J., Free PMC Article

    02/8/2020
    Circulating levels of myosin-11, which is a smooth muscle cell-specific myosin isoform, may be useful as a biomarker for abdominal aortic aneurysms.

    Proteomic analysis of aortic smooth muscle cell secretions reveals an association of myosin heavy chain 11 with abdominal aortic aneurysm.
    Yokoyama U, Arakawa N, Ishiwata R, Yasuda S, Minami T, Goda M, Uchida K, Suzuki S, Matsumoto M, Koizumi N, Taguri M, Hirano H, Yoshimura K, Ogino H, Masuda M, Ishikawa Y.

    09/7/2019
    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.

    Somatic Mutations and Intratumoral Heterogeneity of MYH11 Gene in Gastric and Colorectal Cancers.
    Jo YS, Kim MS, Yoo NJ, Lee SH.

    08/10/2019
    Novel variants in the ACTA2 and MYH11 genes was identified in a Cypriot family with thoracic aortic aneurysms.

    Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.
    Keravnou A, Bashiardes E, Michailidou K, Soteriou M, Moushi A, Cariolou M., Free PMC Article

    05/25/2019
    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.

    Monitoring of post-transplant CBFB-MYH11 as minimal residual disease, rather than KIT mutations, can predict relapse after allogeneic haematopoietic cell transplantation in adults with inv(16) acute myeloid leukaemia.
    Tang FF, Xu LP, Zhang XH, Chen H, Chen YH, Han W, Wang Y, Yan CH, Sun YQ, Mo XD, Liu KY, Huang XJ.

    02/24/2018
    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.

    Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.
    Yeung KK, Bogunovic N, Keekstra N, Beunders AA, Pals J, van der Kuij K, Overwater E, Wisselink W, Blankensteijn JD, van Hinsbergh VW, Musters RJ, Pals G, Micha D, Zandieh-Doulabi B.

    01/13/2018
    Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees.

    A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.
    Imai Y, Morita H, Takeda N, Miya F, Hyodo H, Fujita D, Tajima T, Tsunoda T, Nagai R, Kubo M, Komuro I.

    03/26/2016
    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.

    Overexpression of myosin is associated with the development of uterine myoma.
    Zhang W, Cheng Z, Qu X, Dai H, Ke X, Chen Z.

    10/10/2015
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