Phenotype muscle fibers skeletal. Medical search. Frequent questions

Accordingly, the volume of SR tubules localized around the myofibrils is strongly reduced in skeletal muscle fibers of 4- and 10-month-old sAnk1 knockout (KO) mice, while additional structural alterations only develop with aging. (mdpi.com)
To verify whether the lack of sAnk1 also alters intracellular Ca 2+ handling, cytosolic Ca 2+ levels were analyzed in stimulated skeletal muscle fibers from 4- and 10-month-old sAnk1 KO mice. (mdpi.com)
Targeted deletion of Kcne3 impairs skeletal muscle function in mice. (uni-bielefeld.de)
Diversification of intrinsic motoneuron electrical properties during normal development and botulinum toxin-induced muscle paralysis in early postnatal mice. (uni-bielefeld.de)
Here, we tested this hypothesis using AR113Q knockin and human bacterial artificial chromosome/clone (BAC) transgenic mice that express the full-length polyQ-AR and display androgen-dependent weakness, muscle atrophy, and early death. (nih.gov)
In this study, we identified a selective atrophy of fast-glycolytic myofibers in skeletal muscles of homozygous HIV-1 transgenic mice, whereas the more oxidative fiber types are spared. (imrpress.com)
In agreement with this, muscles enriched in fast-glycolytic myofibers such as the extensor digitorum longus and gastrocnemius, but not those rich in oxidative fibers such as the soleus, exhibited a reduced muscle size in homozygous HIV-1 transgenic mice compared to their littermate control counterparts. (imrpress.com)
Additionally, muscles of heterozygous HIV-1 transgenic mice displayed increased inflammation and blunted myofiber growth in an injury-induced muscle regeneration process. (imrpress.com)
Since no myogenic intrinsic defect was observed in satellite cells from the transgenic mice, these results support the notion of an inflammation-mediated, fiber-type-specific inhibition of muscle growth in the presence of the HIV-1 transgene. (imrpress.com)
Using a conditional and temporally regulated Cre strategy as well as Mapk1 (ERK2) and Mapk3 (ERK1) genetically targeted mice, MEK1-ERK2 signaling was shown to underlie this fast-to-slow fiber type switching in adult skeletal muscle as well as during development. (lsu.edu)
Physiologic assessment of these activated MEK1-ERK1/2 mice showed enhanced metabolic activity and oxygen consumption with greater muscle fatigue resistance. (lsu.edu)
We obtained the hypertrophic-highly oxidative phosphorylation model by over-expressing the estrogen-related receptor gamma ( Erry ) on the Myostatin (a potential inhibitor of skeletal muscle enlargement) null (Mtn -/- ) background mice. (qscience.com)
We have generated mice overexpressing p43 under control of the human alpha-skeletal actin promoter. (bioblast.at)
Skeletal muscles of transgenic mice were redder than wild-type animals suggesting an increased oxidative metabolism. (bioblast.at)
In addition, we found that PGC-1alpha and PPARdelta, two major regulators of muscle phenotype were up regulated in p43 transgenic mice suggesting that these proteins could be downstream targets of mitochondrial activity. (bioblast.at)
We demonstrate that deletion of ERRγ from DAergic neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene expression and number, that partial deficiency of ERRγ hastens synuclein-mediated toxicity, and that ERRγ overexpression reduces inclusion load and delays synuclein-mediated cell loss. (nature.com)
Compared to that of age- and sex-matched FVB mice, mdx/FVB mice showed characteristic limb muscle pathology similar to that of original mdx mice. (plos.org)
Further, the forelimb grip strength and limb muscle (tibialis anterior and extensor digitorum longus) specific force of mdx/FVB mice were significantly lower than that of wild type FVB mice. (plos.org)
However, we demonstrate by histological analysis that Snai3 null mutant mice exhibit normal skeletal muscle. (plos.org)
During hindlimb muscle regeneration after cardiotoxin-mediated injury, the Snai3 null mice exhibited efficient regeneration. (plos.org)
To determine whether the Snai3 gene functions redundantly with the Snai1 gene during skeletal muscle regeneration, we performed hindlimb muscle regeneration in mice with skeletal muscle-specific deletion of the Snai1 gene on a Snai3 null genetic background. (plos.org)
These mice also exhibited efficient regeneration, demonstrating that there is no major role for the Snai1 and Snai3 genes in regulating skeletal muscle regeneration in mice. (plos.org)
The levels of transgenic mRNA in muscle did not differ between mice from our lead MATR3 F115C line and lead MATR3 WT line, but mice from the lead MATR3 F115C line had significantly higher levels of MATR3 protein in muscle over the lead MATR3 WT line. (biomedcentral.com)
Muscle of both MATR3 WT and MATR3 F115C mice showed vacuoles by 2 months of age which worsened by ~ 10 months, but vacuolation was noticeably more severe in MATR3 F115C mice. (biomedcentral.com)
This study used decellularized skeletal muscle ECM from young and aged mice to determine microenvironmental effects on macrophage phenotype both in vitro and in vivo using an abdominal wall injury reconstruction model. (pitt.edu)
The first objective of this work was to characterize muscle ECM from young and aged mice and to observe its effect on macrophage phenotype and function. (pitt.edu)
Methods: We generated muscle-specific p62 gene rescue mice (p62-mRes), which express p62 only in muscle and were derived from p62-knock out mice (p62 KIKI ) using the cre/loxp system. (figshare.com)
p62 KIKI and p62-mRes mice were fed an HFD for 20 weeks and their phenotypes were compared. (figshare.com)
Results: HFD-feeding caused severe obesity in both p62 KIKI and p62-mRes mice, but there was no effect of muscle p62 on body mass. (figshare.com)
Limb skeletal muscle mass, grip strength, and the cross-sectional area of muscle fibers were higher in p62-mRes mice than in p62 KIKI . (figshare.com)
The protein expression of mechanistic target of rapamycin, which promotes muscle protein synthesis, and GLUT4, a glucose transporter in skeletal muscle, were higher in the p62-mRes mice. (figshare.com)
p62 KIKI mice developed severe NASH when fed an HFD, but the progression of NASH was retarded by p62 gene rescue in muscle, and the expression of Tgf-β1, which encodes a factor that promotes hepatic fibrosis, was reduced. (figshare.com)
Conclusion: Rescue of muscle-specific p62 in the whole-body p62 knock-out mice ameliorates the insulin resistance and retards the progression of NASH caused by systemic p62 ablation. (figshare.com)

Peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α ), a nuclear receptor coactivator, promotes mitochondrial biogenesis, the fiber-type switch to oxidative fibers, and angiogenesis in skeletal muscle. (elsevierpure.com)

Myotonia could be caused by genetic mutations in the SCN4A gene that encodes the skeletal muscle sodium channel subtype 4 (Nav1.4). (wikipedia.org)
Mutations may alter the kinetics of the channel, such that the channel fails to inactivate properly, thus allowing spontaneous action potentials to occur after voluntary activity has terminated, prolonging relaxation of the muscle, or can result in paralysis if the relaxation is severely prolonged (see SCN4A). (wikipedia.org)
Duchenne muscular dystrophy (DMD) is a muscle wasting disease caused by mutations in the DMD gene, which encodes dystrophin. (seattlechildrens.org)
For example, mutations in TTN gene may present with a wide range of phenotypes ranging from congenital myopathy to late-onset distal myopathy. (medscape.com)
Mutations of Na V 1.4 give rise to a heterogeneous group of muscle disorders, with gain-of-function defects causing myotonia or hyperkalemic periodic paralysis. (jci.org)
The findings suggest that analysis of muscle pathology in individuals harboring ALS-linked MATR3 mutations should be routinely considered. (biomedcentral.com)
Recent findings The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, αB-crystallin and myotilin, result in similar pathologic alterations in skeletal muscle that are typical of myofibrillar myopathy. (elsevierpure.com)
These mutations change the structure of the RYR1 channel, which alters the normal flow of stored calcium ions within muscle cells. (medlineplus.gov)
Researchers have proposed two mechanisms to explain how RYR1 gene mutations underlie muscle weakness in people with central core disease. (medlineplus.gov)
At least 11 mutations in the RYR1 gene have been found to cause congenital fiber-type disproportion, a disorder that causes general muscle weakness that typically does not worsen over time. (medlineplus.gov)
Researchers suspect that disruption of the RYR1 channel may play a role in the muscle weakness and other features of congenital fiber-type disproportion, although the role of RYR1 gene mutations in this condition is unclear. (medlineplus.gov)
It is not yet clear whether people with congenital fiber-type disproportion caused by RYR1 gene mutations have an increased risk of malignant hyperthermia (described below). (medlineplus.gov)
Deletions in the spectrin-like region of ANC-1 led to significant defects, but only recapitulated the null phenotype in combination with mutations in the trans-membrane span. (ucdavis.edu)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)

We examined the proportion of mutant DNA in muscle specimens at the cellular level using single fiber analysis in five patients with the 3243 mutation: three were diagnosed clinically as having MELAS and two had mitochondrial diabetes mellitus (MDM). (nih.gov)
On the other hand, the proportion of mutant DNA in non-RRF revealed a wider range than in RRF and the average was higher in MELAS patients (58.5+/-27.3%) than that in MDM patients (26.3+/-27.9%), which correlated with biochemical and morphological mitochondrial abnormalities in muscle. (nih.gov)
Casas F, Pessemesse L, Grandemange S, Seyer P, Gueguen N, Baris O, Lepourry L, Cabello G, Wrutniak-Cabello C (2008) Overexpression of the mitochondrial T3 receptor p43 induces a shift in skeletal muscle fiber types. (bioblast.at)
These data indicate that the direct mitochondrial T3 pathway is deeply involved in the acquisition of contractile and metabolic features of muscle fibers in particular by regulating PGC-1alpha and PPARdelta. (bioblast.at)

Our on-going research is focused on the regulatory mechanisms that link innervation, PKC activity, IP3R1 activity, transcriptional regulators, and expression of slow muscle fiber type specific genes. (rosalindfranklin.edu)
During vertebrate myogenesis, myoblast cell populations proliferate and fuse to form multinucleated muscle fibers that express a battery of contractile protein genes. (rosalindfranklin.edu)
Notably, LGMD subtypes are phenotypically highly variable, limb-girdle weakness may not be the predominant presentation, and mutation in genes assigned to LGMD subtypes may cause allelic conditions with a different phenotype. (medscape.com)
A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
It encompasses the transmission of these genes in terms of both genotype and phenotype. (3x4genetics.com)
These genes help determine muscle fiber type, influencing strength and endurance. (3x4genetics.com)
There are a number of genes that play a role in skeletal muscle function, energy production, nerve cell communication, and various cellular processes. (3x4genetics.com)

Spinal and bulbar muscular atrophy (SBMA) is caused by the polyglutamine androgen receptor (polyQ-AR), a protein expressed by both lower motor neurons and skeletal muscle. (nih.gov)
Overall, our results indicate that increasing the levels of MATR3 in muscle can cause pathologic changes associated with myopathy, with MATR3 F115C expression causing overt muscle atrophy and a profound motor phenotype. (biomedcentral.com)
Defective muscle regeneration can severely affect re-innervation by motor axons, and neuromuscular junctions (NMJs) development, ultimately leading to skeletal muscle atrophy. (biomed.news)

ERK1/2 signaling induces skeletal muscle slow fiber-type switching and" by Justin G. Boyer, Vikram Prasad et al. (lsu.edu)

Similar to Paramyotonia Congenita, where potassium exacerbates myotonia in many phenotypes, Hyperkalemic Periodic Paralysis is another disorder of the SCN4A gene where high blood potassium levels result in muscle weakness, muscle paralysis (through weakness or through over excitation preventing movement), and sometimes myotonia. (wikipedia.org)
Limb-girdle muscular dystrophy refers to a group of genetic disorders that cause progressive weakness and wasting of the skeletal muscles, predominantly around the shoulders and hips. (medscape.com)
Most patients present with a history of progressive, symmetric, proximal muscle weakness that starts in childhood to young adulthood. (medscape.com)
Pelvic muscle weakness is most often the first symptom. (medscape.com)
Human immunodeficiency virus (HIV)-induced wasting syndrome, characterized by weakness and severe loss of muscle mass, is a common condition of patients with advanced acquired immunodeficiency syndrome (AIDS). (imrpress.com)
Hypokalemic periodic paralysis (HypoPP) is an ion channelopathy of skeletal muscle characterized by attacks of muscle weakness associated with low serum K + . HypoPP results from a transient failure of muscle fiber excitability. (jci.org)
At the moment, one of the most useful classifications in clinical therapy continues to be the predominant weakness pattern, that allows for the identification of phenotypes to guide the genetic studies. (digitis.net)
The treatment of muscle weakness revolves around stretching, bracing, and supportive care. (medscape.com)
Activity level is based upon the combination of muscle weakness, respiratory concerns, and orthopedic restrictions. (medscape.com)
The typical clinical manifestation is slowly progressive proximal, distal or both proximal and distal limb muscle weakness. (elsevierpure.com)
Myotonia Atrophica / Myotonic dystrophy is characterized by progressive multisystem genetic impairment in relaxation of muscles after voluntary contraction due to repetitive depolarization of the muscle membrane disorders muscle wasting and weakness. (rxharun.com)
[rx] Distal muscle weakness is the predominant symptom in classic DM1. (rxharun.com)
The classic form also presents with the characteristic "myopathic face" or "hatchet face" due to weakness and wasting of the facial, levator palpebrae, and masticatory muscles. (rxharun.com)
[rx] Some physical examination findings include early-onset cataracts (younger than 50 years), varying grip myotonia, proximal muscle weakness or stiffness, hearing loss, and myofascial pain. (rxharun.com)
This condition is characterized by muscle weakness, primarily affecting the muscles near the center of the body (proximal muscles), such as the muscles in the upper legs and hips. (medlineplus.gov)
A disruption in calcium ion release prevents muscles from contracting normally, leading to the muscle weakness characteristic of central core disease. (medlineplus.gov)
Muscle weakness results from the inability of skeletal muscles to contract appropriately. (medlineplus.gov)
Without enough calcium ions flowing out of the sarcoplasmic reticulum at the appropriate time, muscles cannot contract normally and muscle weakness results. (medlineplus.gov)
Limb-girdle muscular dystrophies (LGMDs) are neuromuscular and genetic disorders that progress with weakness and damage of the proximal muscles, developing with loss of functionality. (bvsalud.org)
Limb-girdle muscular dystrophies (LGMDs) is a peculiar type of muscular dystrophy characterized by weakness and wasting of the proximal upper and lower limb muscles, with progressive loss functionality. (bvsalud.org)

1] For details on pathology, see Skeletal Muscle Pathology. (medscape.com)
In the present study, we aimed to determine the effects of muscle p62 on skeletal muscle mass, muscle strength, insulin resistance, and NASH pathology. (figshare.com)

This article describes the structure, histologic features, and ultrastructural features of normal adult human skeletal muscle and addresses the results of improper specimen handling during muscle biopsy. (medscape.com)
GIBALA, M. J. Effect of short-term sprint interval training on human skeletal muscle carbohydrate metabolism during exercise and time trial performance. (unicamp.br)

In vivo , the identification of macrophage phenotype is complicated since macrophages are obviously exposed to a microenvironment that is more complex respect to cell culture conditions, and they display characteristics that do not conform to the in vitro defined phenotypic categories. (hindawi.com)
Direct electrical stimulation of muscle fibers in vitro is also being employed in our studies. (rosalindfranklin.edu)
We previously reported that inhibition of Sca-1 expression stimulated myoblast proliferation in vitro and regulated the tempo of muscle repair in vivo. (plos.org)
Aging and glycation of the skeletal muscle ECM microenvironment had direct effects on the macrophage response in vitro and in vivo. (pitt.edu)

This heterogeneous group of diseases continues to be characterized from the clinical and molecular point of view since decades ago, giving rise to increasingly more complex classifications based on genotype-phenotype correlation attempts. (digitis.net)

This disease results from mutation in the SCN4A gene encoding the voltage-gated sodium channel Nav1.4 in skeletal muscle fiber membrane. (wikipedia.org)
Potassium-aggravated myotonia (PAM) results from in a mututation of the SCN4A gene that causes skeletal muscles to be unable to relax after contracting in bouts, typically following the consumption of potassium rich food. (wikipedia.org)
Small Ankyrins (sAnk1) are muscle-specific isoforms generated by the Ank1 gene that participate in the organization of the sarcoplasmic reticulum (SR) of striated muscles. (mdpi.com)
Suppression of polyQ-AR in the periphery rescued deficits in muscle weight, fiber size, and grip strength, reversed changes in muscle gene expression, and extended the lifespan of mutant males. (nih.gov)
Additionally, innervation modulates muscle fiber type and associated fiber type specific gene expression. (rosalindfranklin.edu)
Published results indicate that protein kinase C (PKC) activity in conjunction with innervation-induced activation of cell signaling mediated by the muscarinic acetylcholine receptor, Gaq, and the 1,4,5 inositol triphosphate receptor 1 (IP3R1) differentially regulate fast versus slow muscle fiber type gene expression in innervated muscle fibers. (rosalindfranklin.edu)
This signaling culminates in regulation of transcription factors governing expression of the slow myosin heavy chain 2 gene - indicative of the slow muscle fiber phenotype. (rosalindfranklin.edu)
The provocative idea that our genus arose with a deactivated muscle gene turned out to be wrong. (johnhawks.net)
Other primates express this gene in their jaw muscles, where it strengthens the bite force. (johnhawks.net)
Our findings on the age of the inactivating mutation in the MYH16 gene raise the intriguing possibility that the decrement in masticatory muscle size removed an evolutionary constraint on encephalization, as suggested by the anatomy of the muscle attachments relative to the sutures. (johnhawks.net)
The Snai3 gene is expressed at high levels in skeletal muscle. (plos.org)
The ACE gene instructs the production of angiotensin-converting enzyme, which helps to convert a hormone involved in blood pressure regulation and potentially skeletal muscle function. (3x4genetics.com)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

The protein product of MYH16 is one of the heavy chain myosins, a kind of protein that works with actin to enable muscle fibers to contract. (johnhawks.net)
We use two approaches, muscle birefringence and muscle actin expression, to quantify muscle damage and show that the dmd -MO dystrophic phenotype closely resembles the zebrafish dmd mutant phenotype. (plos.org)

SO represents "slow oxidative," and FG represents "fast glycolytic," which are physiologic characteristics of type 1 and type 2 fibers, respectively. (medscape.com)
Physiologists call these the fast-glycolytic (FG) fibers. (medscape.com)
in gastrocnemius muscle, we found an increase in MyHC IIa and IIx expression associated with a reduction in the number of glycolytic fibers type IIb. (bioblast.at)
We found that PGC-1α affected lipid profiles in skeletal muscle and increased several phospholipid species in glycolytic muscle, namely phosphatidylcholine (PC) (18:0/22:6) and phosphatidylethanolamine (PE) (18:0/22:6). (elsevierpure.com)
We also found that exercise training increased PC (18:0/22:6) and PE (18:0/22:6) in glycolytic muscle and that PGC-1α was required for these alterations. (elsevierpure.com)

Heparan sulfate mimetic accelerate post-injury skeletal muscle regeneration. (inmg.fr)
The immune response, which is integral to muscle regeneration, is also dysfunctional with age. (pitt.edu)
These results suggest that the deficiencies observed in aged muscle regeneration could be due to changes in the extracellular matrix. (pitt.edu)
In particular, in skeletal muscle, specific semaphorin molecules are involved in the restoration and remodeling of the nerve-muscle connections, thus emphasizing their plausible role to ensure the success of muscle regeneration. (biomed.news)
This review article aims to discuss the impact of aging on skeletal muscle regeneration and NMJs remodeling and will highlight the most recent insights about the role of semaphorins in this context. (biomed.news)
Without dystrophin, muscles are susceptible to mechanical injury and undergo repeated cycles of necrosis and regeneration. (medscape.com)

We expect that this project will identify genetic and epigenetic regulators of muscle fiber-type identities that confer susceptibility or resistance to muscular dystrophy. (seattlechildrens.org)

Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG. (wikipedia.org)

Primary MuSCs isolated from individual skeletal muscles (gastrocnemius and masseter) are lysed, and their RNA is reverse-transcribed into cDNA and copied into double-stranded DNA. (biomed.news)

In human and mouse models of Duchenne Muscular Dystrophy (DMD), fast muscle fibers are more susceptible to damage than slow fibers. (seattlechildrens.org)
If the response of a muscle to the application of gradually increasing loads is measured, the slow fibers are recruited first. (medscape.com)

We are also exploring the mechanisms that control myogenic cell proliferation versus differentiation in both skeletal and cardiac muscle development. (rosalindfranklin.edu)
Postdoctoral fellows have the opportunity to investigate numerous aspects of the cellular and molecular mechanisms of skeletal and cardiac muscle development. (rosalindfranklin.edu)
Tissues with a high energy demand (eg, brain, nerves, retina, skeletal and cardiac muscle) are particularly vulnerable to defects in oxidative phosphorylation. (msdmanuals.com)

Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. (wikipedia.org)
So, according to numerous studies, not only ACh (which by the way does not always lead to a contraction of the muscle fiber) is released in the vertebrate neuromuscular synapse, but also a number of other synaptically active molecules. (intechopen.com)
The process by which electrical signals trigger muscle contraction is called excitation-contraction (E-C) coupling. (medlineplus.gov)

This article provides introductory background information to assist the reader in understanding pathologic findings in muscle in various disorders that are presented in a separate article. (medscape.com)
Different pathologic processes alter the ratio of the myofiber types and their distributions in the muscle and may selectively affect the size of one type or the other or of both equally. (medscape.com)

The Maves lab investigates skeletal muscle and heart development, with the goal of making discoveries that lead to new treatments for muscular dystrophy and heart disorders. (seattlechildrens.org)
This work will eventually help us understand why certain types of muscle fibers are more susceptible to muscular dystrophy. (seattlechildrens.org)
It is not clear how fiber-type identity confers susceptibility or resistance to muscular dystrophy. (seattlechildrens.org)
This project is aimed at an ultimate goal of manipulating skeletal muscle fiber type as a treatment for muscular dystrophy. (seattlechildrens.org)
Muscle biopsy and genetic testing are the most important tools used in the diagnostic evaluation of patients in whom limb-girdle muscular dystrophy (LGMD) is suspected. (medscape.com)
In summary, sustained MEK1-ERK1/2 activity in skeletal muscle produces a fast-to-slow fiber-type switch that protects from muscular dystrophy, suggesting a therapeutic approach to enhance the metabolic effectiveness of muscle and protect from dystrophic disease. (lsu.edu)
The mdx mouse is the most frequently used animal model for Duchenne muscular dystrophy (DMD), a fatal muscle disease caused by the loss of dystrophin. (plos.org)

Skeletal abnormalities are frequent complications of patients with a congenital myopathy. (medscape.com)

Structural diseases during infancy and adult age comprise the rest of muscular dystrophies: a group of hereditary diseases that affect the skeletal muscle, with the characteristic progressive degeneration of muscle fibers which causes loss of strength. (digitis.net)
In each case, the molecular defect leads to a stereotyped cascade of structural events in the muscle fiber. (elsevierpure.com)

Some studies have suggested that changes in physiological pH could have modulatory effects on Nav1.4 sodium channels, which could have manifestations in myotonic phenotypes. (wikipedia.org)
Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)

In particular, zebrafish provide a system for rapid, easy, and low-cost screening of small molecules that can ameliorate muscle damage in dystrophic larvae. (plos.org)

Moreover, induction of MEK1-ERK1/2 signaling increased dystrophin and utrophin protein expression in a mouse model of limb-girdle muscle dystrophy and protected myofibers from damage. (lsu.edu)
In most vertebrates this protein is expressed in muscles that develop from the first pharyngeal arch, including temporalis , which in mammals is the largest muscle of the jaw. (johnhawks.net)
We have included an additional panel, chosen for particular characteristics on muscle biopsy, for the study of myofibrillar and protein aggregate myopathies . (digitis.net)
however, priority needs to be given to resistance exercise training, and secondarily to adequate protein intake should be part of this dietary regime to mitigate losing muscle mass. (biomed.news)
Elevated levels of protein tyrosine phosphorylation contribute to a malignant phenotype, although the tyrosine kinases that are responsible for this signaling remain largely unknown. (aacrjournals.org)

Despite the increasing genetic heterogeneity, the clinical and morphologic phenotypes are remarkably homogeneous. (elsevierpure.com)
However, due to the significant progress in the improvement and application of electrophysiological, genetic, pharmacological, biochemical and immunohistochemical methods a number of previously unknown aspects of neuron and muscle interaction were revealed. (intechopen.com)

Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers. (inmg.fr)
Open-CSAM, a new tool for semi-automated analysis of myofiber cross-sectional area in regenerating adult skeletal muscle. (inmg.fr)

Here we show that, concurrent with a decrease in chondrogenesis, inhibition of p38 in limb bud cultures dramatically promotes muscle development. (biologists.com)

These findings may reflect the underlying mechanisms of tissue specificity in each phenotype. (nih.gov)

CHIN, E. R. Role of Ca2+/calmodulin-dependent kinases in skeletal muscle plasticity. (unicamp.br)

Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal. (wikipedia.org)
Myotonia may present in the following diseases with different causes related to the ion channels in the skeletal muscle fiber membrane (sarcolemma). (wikipedia.org)
The ClC-1 ion channel is responsible for the major part of chloride conductance in the skeletal muscle cell, and lack of sufficient chloride conductance may result in myotonia, (see myotonia congenita). (wikipedia.org)
Reduced chloride conductance may result in myotonia, due to accumulation of potassium in the transverse-tubules in skeletal muscle (see myotonia congenita). (wikipedia.org)
This inability of muscles to relax worsening with exercise is often termed "paradoxical myotonia. (wikipedia.org)
People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. (rxharun.com)
[rx] Dysarthria and hand muscle myotonia may be prominent features and might exacerbate learning difficulties. (rxharun.com)

Each muscle has a characteristic ratio of type 1 to type 2 myofibers. (medscape.com)

Much of our research focuses on the cellular and molecular mechanisms that regulate the development and differentiation of skeletal muscle fibers and their respective phenotypes. (rosalindfranklin.edu)
The aim of this research is to identify and characterize the molecular regulatory circuitry that establishes these myogenic cell lineages and which thereby establish fast versus fast/slow muscle fiber types, independent of innervation, and dependent of cell lineage commitment. (rosalindfranklin.edu)
Studies in multiple organisms have shown that aging is accompanied by several molecular phenotypes that include dysregulation of chromatin. (nsf.gov)

The metabolic myopathies represent a group of muscle disorders characterized by impairments in intermediary metabolism. (essayempire.com)
The following disorders are conditions with a known phenotype/genotype correlation. (msdmanuals.com)

Loss of Dystrophin and β-Sarcoglycan, Respectively, Significantly Exacerbates the Phenotype of Laminin α2 Chain-Deficient Animals. (lu.se)
Dive into the research topics of 'Loss of Dystrophin and β-Sarcoglycan, Respectively, Significantly Exacerbates the Phenotype of Laminin α2 Chain-Deficient Animals. (lu.se)

Unexpectedly, for all stably-transmitting lines examined, MATR3 transgenic mRNA expression was more robust in muscle, with minimal expression in spinal cord. (biomedcentral.com)

For a detailed discussion of muscle biopsy procedure and an overview of the clinical and laboratory features of neuromuscular disease, see Muscle Biopsy and Clinical and Laboratory Features of Neuromuscular Disease. (medscape.com)
Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)

Resistance training with vascular occlusion: metabolic adaptations in human muscle. (unicamp.br)

Using mouse genetics, we observed that the muscle-specific expression of a constitutively active MEK1 mutant promotes greater ERK1/2 signaling that mediates fiber-type switching to a slow, oxidative phenotype with type I myosin heavy chain expression. (lsu.edu)

Skeletal muscle is characterized by a remarkable capacity to rearrange after physiological changes and efficiently regenerate. (biomed.news)
Originally discovered as axon guidance factors, they have been implicated in cancer progression, embryonal organogenesis, skeletal muscle innervation, and other physiological and developmental functions in different tissues. (biomed.news)

However, at least two distinct macrophage populations have been identified: the classically activated M1 phenotype and the alternative activated M2 phenotype [ 6 ]. (hindawi.com)
Therefore, in the last years characterization of macrophage phenotype in vivo during tissue repair has been a matter of active investigation. (hindawi.com)
Glucocorticoids Shape Macrophage Phenotype for Tissue Repair. (inmg.fr)
Macrophage polarization has been shown to be necessary for appropriate skeletal muscle healing. (pitt.edu)
The macrophage response to glycated muscle ECM showed an increased nitric oxide production compared to young ECM. (pitt.edu)

Introduction: Obesity is a risk factor for many diseases because it leads to a reduction in skeletal muscle mass and promotes insulin resistance. (figshare.com)

Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers. (inmg.fr)
RYR1 channels are located in the membrane surrounding a structure in muscle cells called the sarcoplasmic reticulum. (medlineplus.gov)
As a result, not enough calcium ions are available in the sarcoplasmic reticulum to trigger muscle contractions. (medlineplus.gov)

These fibers contain smaller, less numerous mitochondria, less lipid, and have larger glycogen stores than type 1 fibers. (medscape.com)

The current standard of care is corticosteroid treatment, which delays the progression of muscle dysfunction but also has serious side effects. (seattlechildrens.org)

Because phospholipid fatty acid composition influences cell permeability and receptor stability at the cell membrane, these phospholipids may contribute to exercise training-mediated functional changes in the skeletal muscle. (elsevierpure.com)

Each myofiber is a multinucleate syncytium formed by fusion of immature muscle cells termed myoblasts. (medscape.com)
In normal human muscle, the 2 myofiber types are interspersed in a random interdigitating pattern. (medscape.com)
The 2 myofiber types are normally similar in size to the type 1 fibers. (medscape.com)

Discussion: We propose that exercise--induced Colo--Rectal Activation Phenotype test could be used as a simple, highly sensitive, non-invasive biomarker to determine efficacy of dystrophin replacement therapies. (plos.org)

We recently identified novel epigenetic small molecules that improve muscle degeneration in DMD zebrafish ( https://doi.org/10.1186/s13395-020-00251-4 ). (seattlechildrens.org)
We take advantage of zebrafish models to address whether factors that regulate fiber-type differentiation enhance or suppress the zebrafish dmd muscle degeneration phenotype. (seattlechildrens.org)

Sca-1 is expressed on muscle-derived stem cells and myogenic precursors recruited to sites of muscle injury. (plos.org)
Studies previously conducted show that HS negatively affects the skeletal muscle growth and development by changing its effects on myogenic regulatory factors, insulin growth factor-1, and heat-shock proteins. (frontiersin.org)

Our research indicates that intrinsic differences between myoblasts before overt differentiation leads to diversity in muscle fiber types. (rosalindfranklin.edu)
These lineages are defined are distinct types of embryonic myoblasts that are committed to the differentiation of diverse, lineage-based, muscle fiber types. (rosalindfranklin.edu)
The goal of our on-going research is to define and characterize the transcriptional complexes resident on the FGFR1 regulatory regions as well as those interactions off the promoter that govern its expression in both proliferating myoblasts and differentiated muscle fibers. (rosalindfranklin.edu)

The reaction involves a high fever (hyperthermia), a rapid heart rate (tachycardia), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). (medlineplus.gov)

Although viewed as a motor neuronopathy, data from patients and mouse models suggest that muscle contributes to disease pathogenesis. (nih.gov)
Here we investigated ERK1/2 signaling in skeletal muscle homeostasis and disease. (lsu.edu)
BFR exercise may be particularly useful for those unable to withstand high mechanical stresses on joints resulting in skeletal muscle dysfunction, such as patients with chronic kidney disease (CKD). (e-jer.org)

We are using zebrafish and mouse models to study the functions of factors such as Pbx homeodomain transcription factors and how they control muscle fiber-type development. (seattlechildrens.org)
Our approach is to manipulate fiber-type regulators that function early in development in dmd zebrafish embryos. (seattlechildrens.org)
We are screening epigenetic chemicals for their abilities to enhance or suppress the zebrafish dmd phenotype. (seattlechildrens.org)

Although there are a number of medications that can impair muscle metabolism (e.g., statins), these are generally grouped within the category of toxic myopathies and will not be considered further in this research paper. (essayempire.com)

We are investigating the mechanisms of skeletal muscle fiber-type differentiation. (seattlechildrens.org)
One focus of our lab is understanding the mechanisms behind how skeletal muscle cells differentiate into a specific muscle fiber type, either fast twitch or slow twitch. (seattlechildrens.org)
Much of our research focuses on the mechanisms that establish and maintain skeletal muscle fiber type diversity during development. (rosalindfranklin.edu)
These studies provide insight into mechanisms that regulate not only muscle cell proliferation and differentiation, but regulation of cell proliferation in general. (rosalindfranklin.edu)

The delayed rectifier potassium conductance in the sarcolemma and the transverse tubular system membranes of mammalian skeletal muscle fibers. (uni-bielefeld.de)
Secondly, the expression of sarcolemma DGC proteins would be massively regulated by the metabolic phenotype of muscle fibers. (qscience.com)

Anatomy64

Organisms29

Diseases17

Chemicals and Drugs56

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Phenomena and Processes57

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena3

Technology, Industry, Agriculture3

Information Science3

Health Care3

Mice33

Oxidative fibers1

Mutations14

Mitochondrial4

Genes7

Atrophy3

Induces1

Weakness20

Pathology2

Human skeletal muscle2

Vitro4

Genotype-phenotype1

Gene13

Actin2

Glycolytic5

Regeneration6

Regulators of muscle1

Electrical stimulation1

Gastrocnemius1

Slow fibers2

Cardiac muscle3

Contraction3

Pathologic2

Muscular dystrophy7

Congenital myopathy1

Structural2

Myotonic2

Dystrophic1

Protein5

Genetic2

Adult2

Limb1

Findings1

Plasticity1

Myotonia7

Characteristic1

Molecular3

Disorders2

Exacerbates2

MRNA1

Clinical2

Adaptations1

Genetics1

Physiological2

Macrophage5

Insulin resistance1

Sarcoplasmic reticulum3

Mitochondria1

Progression1

Membrane1

Myofiber3

Dystrophin1

Degeneration2

Myogenic2

Myoblasts3

Rhabdomyolysis1

Disease3

Zebrafish3

Myopathies1

Mechanisms4

Sarcolemma2