In the four disease loci found, three genes have been identified which code for beta-myosin heavy chain, cardiac troponin T and alpha-tropomyosin. (nih.gov)
Cardiac Myosin Binding Protein-C (cMyBPC) and cardiac troponin I (cTNI) are hypertrophic cardiomyopathy (HCM)-causing sarcomeric proteins which regulate contractility in response to PKA phosphorylation. (biomedcentral.com)
Mutations in five different loci cause FHC and 3 disease genes have been identified: beta cardiac myosin heavy chain, alpha tropomyosin and cardiac troponin T. Because these genes encode contractile proteins, other FHC loci are predicted also to encode sarcomere components. (ox.ac.uk)
Mutations11
Mutations in myosin heavy chain 7 (MYH7) commonly cause cardiomyopathy. (karger.com)
Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. (karger.com)
Mutations in the MYH7 gene cause myosin storage myopathy. (medlineplus.gov)
Mutations in the MYH7 gene lead to the production of an altered cardiac β-myosin heavy chain protein, which is thought to be less able to form thick filaments. (medlineplus.gov)
Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (medlineplus.gov)
The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants. (uni-trier.de)
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. (ox.ac.uk)
Both mutations are predicted to disrupt the high affinity, C-terminal, myosin-binding domain of cardiac MyBP-C. These findings define cardiac MyBP-C mutations as the cause of FHC on chromosome 11p and reaffirm that FHC is a disease of the sarcomere. (ox.ac.uk)
Recently, we demonstrated that mutations in the cardiac myosin heavy-chain genes cause familial hypertrophic cardiomyopathy in some families. (ox.ac.uk)
We report a diagnostic test for familial hypertrophic cardiomyopathy that relies on the detection of mutations in the beta myosin heavy-chain gene in circulating lymphocytes that we used to evaluate three generations of a family, including the children. (ox.ac.uk)
CONCLUSIONS: Transcripts of beta cardiac myosin heavy-chain gene can be detected in blood lymphocytes and used to screen for mutations that cause familial hypertrophic cardiomyopathy. (ox.ac.uk)
MYH73
The MYH7 gene provides instructions for making a protein known as the cardiac beta (β)-myosin heavy chain. (medlineplus.gov)
Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. (medlineplus.gov)
Adult cardiomyocytes in mice primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7). (ca.gov)
Rabbit muscle myosin2
The structure and function of myosin is strongly conserved across species, to the extent that rabbit muscle myosin II will bind to actin from an amoeba . (wn.com)
Heart development (myocardium differentiation, Skeletal muscle development (alpha-actin of skeletal muscles),) Smooth muscle development (alpha-actin of smooth muscles), Regulation of myosin heavy chain genes, cardiac muscular genes troponin T and I Regulation of proliferation, Regulation of apoptosis, Protein Kinase A (pKA) can phosphorylate TEAD1 at serine 102, after the TEA domain. (wikipedia.org)
Polymerase Chain Re1
METHODS AND RESULTS: Using the polymerase chain reaction, we found that normal and mutant beta cardiac myosin heavy-chain genes are transcribed in circulating lymphocytes. (ox.ac.uk)
Protein6
This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. (medlineplus.gov)
Recently the human cardiac myosin binding protein-C (MyBP-C) gene was mapped to chromosome 11p11.2 (ref. 8), making this gene a good candidate for the fourth locus, CMH4 (ref. 5). (nih.gov)
Thus, although myosin was originally thought to be restricted to muscle cells (hence myo- (s) + -in ), there is no single "myosin" but rather a huge superfamily of genes whose protein products share the basic properties of actin binding, ATP hydrolysis (ATPase enzyme activity), and force transduction. (wn.com)
Full length native protein (purified) corresponding to Rabbit Fast Myosin Skeletal Heavy chain. (abcam.cn)
The gene encoding the cardiac isoform of myosin binding protein-C (cardiac MyBP-C) has recently been assigned to chromosome 11p11.2 and proposed as a candidate FHC gene. (ox.ac.uk)
Finally, TGF-betaR signaling inhibition suppressed the expression of transforming acidic coiled-coil protein-3 (TACC3) that stabilizes EGFR signaling, suggesting a reciprocal regulation between TGF-beta and EGFR signaling during chlamydial infection. (cdc.gov)
Titin1
Cardiac MyBP-C is arrayed transversely in sarcomere A-bands and binds myosin heavy chain in thick filaments and titin in elastic filaments. (ox.ac.uk)
Mutation1
Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P: A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. (karger.com)
Gene expression2
Once this complex is formed, these two proteins can regulate the alpha-myosin heavy chain (α-MHC) gene expression. (wikipedia.org)
MicroRNA-27a regulates beta cardiac myosin heavy chain gene expression by targeting thyroid hormone receptor beta1 in neonatal rat ventricular myocytes. (geneticsmr.com)
Isoforms1
Virtually all eukaryotic cells contain myosin isoforms . (wn.com)
Proteins3
Myosins ( / ˈ m aɪ ə s ᵻ n , - oʊ - / ) comprise a family of ATP -dependent motor proteins and are best known for their role in muscle contraction and their involvement in a wide range of other motility processes in eukaryotes . (wn.com)
The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
Our results revealed the interaction of the chlamydial effector proteins (CT228 and Tarp) with components of the myosin II complex and UPR regulator and transducer during infection. (cdc.gov)
ATPase1
In addition, specific inhibitors of myosin light chain kinase, Tarp oligomerization and myosin ATPase significantly reduced UPR activation and Chlamydia replication. (cdc.gov)
Embryonic2
Three embryonic class II myosin heavy chains (MYHs) were cloned from the common carp ( Cyprinus carpio L.), MYH emb1 ,MYH emb2 and MYH emb3 . (biologists.com)
It is reactivated by cardiac stresses and forms a complex with its embryonic partners, HDAC and PARP, to induce a pathological alpha-MHC to beta-MHC shift. (ca.gov)
Binds1
We investigated the hypothesis that T3SS effector-mediated assembly of myosin-II complex produces activated non-muscle myosin heavy chain II (NMMHC-II), which then binds the UPR master regulator (BiP) and/or transducers to induce UPR. (cdc.gov)
Promoter2
This recruitment leads to the repression of the MLC2v (Myosin Light Chain 2 v) and βMHC ( β-myosin heavy chain ) promoter. (wikipedia.org)
2002). Divergence in species and regulatory role of beta -myosin heavy chain proximal promoter muscle-CAT elements. (missouri.edu)
Thick1
Cardiac β-myosin heavy chain is the major component of the thick filament in muscle cell structures called sarcomeres . (medlineplus.gov)
Hypertrophy1
Cardiac stress triggers adult hearts to undergo hypertrophy and a shift from alpha-MHC to fetal beta-MHC expression. (ca.gov)
Clinical Trials1
Numerous large clinical trials have demonstrated beneficial effects of beta-blocker agents (BBAs) in humans with congestive heart failure. (vin.com)
Polypeptide chain1
The order of amino acids as they occur in a polypeptide chain. (lookformedical.com)
Cardiomyopathy1
Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (karger.com)
Mice1
Down-regulation of AREG could inhibit Ang II induced the increases of atrial natriuretic peptide, brain natriuretic peptide, beta-myosin heavy chain in the heart of mice, and NRCMs and HL-1 cells. (beds.ac.uk)
Muscle3
Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. (medlineplus.gov)
It is unclear how these changes lead to muscle weakness in people with myosin storage myopathy. (medlineplus.gov)
2001). Multiprotein complex formation at the beta myosin heavy chain distal muscle CAT element correlates with slow muscle expression but not mechanical overload responsiveness. (missouri.edu)
Expression6
Addition of oleic acid following differentiation increased expression of myosin heavy chain 7 and connexin 43. (ox.ac.uk)
This allowed us to examine beta cardiac myosin heavy-chain messenger RNA from blood lymphocytes, even though ordinary expression of the gene is virtually restricted to the heart. (ox.ac.uk)
Relative expression of transforming growth factor beta (TGF- β), myosin heavy chain beta (β-MHC), endothelial nitric oxide synthase (eNOS) and glyceraldehydes-3-phosphate dehydrogenase (GAPDH) was studied. (ukessays.com)
Chlamydia also upregulates TGF-beta expression whose signaling pathway synergizes with the EGFR cascade, but its role in infectivity, inclusions and EMT induction is unknown. (cdc.gov)
The results revealed that Chlamydia upregulated TGF-beta expression as early as 6 h post-infection of epithelial cells and stimulated both the EGFR and TGF-beta signaling pathways. (cdc.gov)
Importantly, EGFR inhibition suppressed TGF-beta expression, and an inhibitory thrombospondin-1 (Tsp1)-based peptide inhibited chlamydia-induced EMT, revealing a major source of active TGF-betaduring infection. (cdc.gov)
Subunits1
Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)
Human1
Human cardiac beta-myosin heavy chain fragments of different lengths were amplified from 100 ng of genomic DNA using Titanium Taq and two leading competitor's hot start Taq polymerases. (takarabio.com)
Alpha3
It preserves fetal cardiac differentiation by interacting with histone deacetylase (HDAC) and poly (ADP ribose) polymerase (PARP) to repress alpha-MHC and activate beta-MHC. (ca.gov)
Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
Addition of oleic acid stimulated the peroxisome proliferator-activated receptor alpha pathway and led to maturation of the cardiac progenitors, both before and after transforming growth factor-beta 1 differentiation. (ox.ac.uk)
Structure1
Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (lookformedical.com)
Class1
Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. (lookformedical.com)
Mouse2
2009). IGF-I activates the mouse type IIb myosin heavy chain gene. (missouri.edu)
β-myosin heavy chain is induced by pressure overload in a minor subpopulation of smaller mouse cardiac myocytes. (ucdavis.edu)
Large1
Following the discovery by Pollard and Korn (1973) of enzymes with myosin-like function in Acanthamoeba castellanii , a large number of divergent myosin genes have been discovered throughout eukaryotes. (wn.com)
Site1
Take a look at our BETA site and see what we've done so far. (abcam.cn)