MYH11

MYH11

A gene on chromosome 16p13.11 that encodes a heavy chain of myosin and is thus involved in cytokinesis, cell shape and specialised functions—e.g., secretion and capping.
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Some of the variants identified include: in Acute Myeloid Leukemia samples, a large inversion on chromosome 16, which creates a CBFB MYH11 fusion; in one B-Cell Acute Lymphoblastic Leukemia sample, a BCR-ABL1 translocation, and deletions of tumor suppressor genes IKZF1 and CDK6; and in a separate B-ALL sample, a NF1 deletion, which is a well-known risk factor for childhood leukemia.
A total of 24 CAD genes, namely, 105 (ADARB2), 183 (AGT), 1586 (CYP17A1), 1611 (DAP), 2917 (GRM7), 2982 (GUCY1A3), 4134 (MAP4), 4625 (MYH7), 4629 (MYH11), 5126 (PCSK2), 5522 (PPP2R2C), 9229 (DLGAP1), 9833 (MELK), 23544 (SEZ6L), 23551 (RASD2), 55017 (C14orf119), 55759 (WDR12), 56776 (FMN2), 60676 (PAPPA2), 60680 (CELF5), 84790 (TUBA1C), 127833 (SYT2), 133491 (C5orf47), and 259232 (NALCN), were identified in this coexpression network (Figure 2, Table S3).
Furthermore, the mRNA expression levels of Acta2, Coll1a1, TIMP1, and Myh11, which are classical markers for HSC activation, were significantly reduced in EXE-treated rHSCs (Figure 4(d)).
The results showed that Karyogene could successfully detect the more common fusion genes including promyelocytic leukemia ( PML ) retinoic acid receptor ( RARA ), core-binding factor beta ( CBFB ) myosin heavy chain 11 ( MYH11 ), RUNX1- RUNX1 translocation partner 1 ( RUNX1T1 ), and histone-lysine n-methyltransferase 2A ( KMT2A ), with 100% sensitivity and specificity.
Genetics testing of the following genes was performed, though no pathogenic mutations or clinically significant variants were detected: ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1 and TGFBR2.
Caracteristicas del sindrome de Marfan y otros diagnosticos diferenciales Diagnostico diferencial Genes con mutaciones Patron conocidas hereditario SM FBN1 AD Homocistinuria clasica CBS AR (tipo 1) (6) Sindrome de tortuosidad SLC2A10 AD arterial Aracnodactilia FBN2 AD contractural congenita Sindrome de Stickler (7) COL2A1-COL11A1 y COLllA2 AD Sindrome de Lujan-Fryns Desconocido RLX (8) Sindrome de Achard Desconocido AD Fenotipo MASS FBN1 AD Sindrome de Loeys-Dietz TGFBR1/2 AD Sindrome de Ehlers Danlos COL3A1, COL1A2, PLOD) AD tipos IV, VI, VII Sindrome de FBN1 AD Shprintzen-Goldberg Sindrome de aneurisma y TGFBR1/2 ACTA2 FBN1 MYH11 AD diseccion aortica toracica familiar Sindrome de prolapso de No se conoce un AD la valvula mitral (9) gen especifico.
The genetic studies revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1.
Detection of AML1-ETO fusion transcript or CBF [beta]/ MYH11 also helped in diagnosis of AML subtypes.
Some of the variants identified include: in Acute Myeloid Leukemia samples, a large inversion on chromosome 16, which creates a CBFB MYH11 fusion; in one B-Cell Acute Lymphoblastic Leukemia (B-ALL) sample, a BCR-ABL1 translocation, and deletions of tumor suppressor genes IKZF1 and CDK6; and in a separate B-ALL sample, a NF1 deletion, which is a well-known risk factor for childhood leukemia.
TAAD represents a heterogeneous population of inherited disorders with mutations in myosin heavy chain11 (MYH11) and [alpha]-smooth muscle actin-2 (ACTA2) among several, which are also linked to TAAD [15,17,19-21, 56-61].
Both inv(16) and t(16;16) result in fusion of CBFB and MYH11, (54) either by inversion within a single chromosome 16 or by translocation between homologs.
(9) The aberrations inv(16) and t(16; 16) lead to fusion of CBFB on 16q22 with smooth muscle myosin heavy-chain gene (MYH11) on 16q13, leading to formation of CBFB/MYH11 chimeric gene.