Genes muscle proteins. Medical search. Frequent questions

It is caused by a mutation in the gene that encodes for dystrophin, a lubricating protein supports muscle fiber strength. (guidestar.org)
When dystrophin is missing in the body, muscle cells are easily damaged, which causes progressive muscle weakness in the entire body. (guidestar.org)
the tadpoles showed reduced expression of cα(E)-catenin , small muscle protein, dystrophin , and myosin light chain genes. (biomedcentral.com)
In 1987, the protein associated with this gene was identified and named dystrophin . (mda.org)
BMD occurs when the dystrophin protein that's made from a particular gene on the X chromosome is only partially functional. (mda.org)
The dystrophin protein keeps the muscle cell membrane from breaking or tearing when our muscles contract and relax. (mda.org)
Because it connects the center of the muscle cell to the periphery, the dystrophin protein is extremely long. (mda.org)
In this case, it's a protein called "dystrophin" that keeps muscle membranes stable and strong. (medlineplus.gov)
There's no cure for DMD, but there are treatments that can help with the symptoms, including gene-based therapies that help the muscles make more dystrophin. (medlineplus.gov)
One promising approach uses an injection of small, harmless viruses to deliver therapeutic dystrophin-producing genes directly into cells in the muscle. (medlineplus.gov)
NIH-supported researchers have been studying ways to deliver dystrophin genes to affected muscles with fewer side effects. (medlineplus.gov)
Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)

To describe two symptomatic dysferlin gene mutation carriers. (nih.gov)
They presented a mutation in only one allele after screening of the whole gene (skeletal muscle and monocyte mRNA and genomic DNA). (nih.gov)
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. (medlineplus.gov)
FSHD2 is caused by mutation in SMCHD1, a gene discovered by WEHI researchers. (edu.au)
In 1986, MDA-supported researchers identified the gene that, when flawed - a problem known as a mutation - causes DMD and BMD. (mda.org)
HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is identified in genes encoding sarcomere proteins. (mdpi.com)
Some traits are caused by mutated genes that are inherited or that are the result of a new gene mutation. (msdmanuals.com)

In addition to the muscle weakness, both patients showed elevated creatine kinase and abnormal muscle MRI. (nih.gov)
The specific effects of these TPM3 gene mutations are unclear, but researchers suggest they may interfere with normal actin-myosin binding, impairing muscle contraction and resulting in the muscle weakness that occurs in cap myopathy. (medlineplus.gov)
At least 10 mutations in the TPM3 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)
Inefficient muscle contraction leads to muscle weakness in people with congenital fiber-type disproportion. (medlineplus.gov)
People with nemaline myopathy typically have muscle weakness throughout their body, including the muscles of the face, neck, and limbs. (medlineplus.gov)
When nemaline myopathy is caused by mutations in the TPM3 gene, affected individuals typically have muscle weakness at birth or beginning in early childhood. (medlineplus.gov)
Critical illness with and without sepsis is associated with loss of skeletal muscle mass and muscle weakness. (massgeneral.org)
The skeletal muscle weakness results in hypoventilation, difficulties in weaning off respirators, contractures and decreased mobilization. (massgeneral.org)
Inhibition of apoptosis may decrease critical illness-induced skeletal muscle wasting and weakness. (massgeneral.org)
FSHD is a disease characterised by death of muscle cells and tissue leading to progressive muscle weakness. (edu.au)
Affected boys begin to exhibit symptoms of muscle weakness between the ages of 3 and 5. (forbes.com)
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)
Dr. Sieck examines basic mechanisms underlying muscle fiber atrophy and weakness under a variety of conditions and diseases. (mayo.edu)
Such weakness, when it occurs in the diaphragm muscle, may severely limit the muscle's mechanical performance and compromise patients' ability to clear their airways, or under extreme conditions, their ability to breathe. (mayo.edu)
Mutations that cause BMD decrease the number of these repeats, leading to muscle weakness. (mda.org)
Limb-girdle muscular dystrophy (LGMD) refers to a group of disorders that manifest as weakness and wasting of arm and leg muscles, with muscles of the shoulders, upper arms, pelvic area, and thighs being most frequently involved. (medscape.com)
In 1884, Erb characterized a juvenile form of proximal muscle weakness. (medscape.com)
[ 5 ] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
Between 1909 and 1954, many individual case reports of primary muscle disease with a limb-girdle distribution of weakness were published. (medscape.com)
[ 11 ] Walton and Nattrass described the disease as a progressive muscle weakness with atrophy involving predominantly proximal muscles (eg, pelvis, shoulder). (medscape.com)
Since the original descriptions of the condition, reports of many sporadic cases have been published with this pattern of muscle weakness associated with many other disorders. (medscape.com)
It treats a group of rare genetic disorders called spinal muscular atrophies (SMAs) that cause loss of nerve cells that control skeletal muscles (muscles that allow us to move) leading to weakness. (medlineplus.gov)
Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
Accepted: 24-01-2023 weakness of a selective group of muscles without involvement of nervous system. (who.int)
The present study is about management 8 years old male child with B/L lower limb weakness and calf muscle hypertrophy.etc, so according to Ayurvedic management with Panchkarma procedures and internal medicines given the case was managed. (who.int)
Weakness of intercostal and diaphragmatic and improving the quality of life in Duchenne muscular muscles with spinal deformity affects respiratory dystrophy children. (who.int)

In this research project, we have investigated the C-terminal structures of small G proteins, purified the regulatory proteins for small G proteins, and made monoclonal antibodies against small G proteins and their regulatory proteins. (nii.ac.jp)
Among these regulatory proteins, we have cloned the cDNAs of smg p21 GDS, smg p25A GDI, and rho GDI, and made monoclonal antibodies against them. (nii.ac.jp)

This study further examined the time course for elevated muscle protein synthesis by examining its rate at 36 hrs following a training session. (researchgate.net)
Therefore, the anabolic actions of insulin, including glucose uptake and protein synthesis are impaired in critical illness of burns. (massgeneral.org)
These differentially expressed genes are primarily involved in electron transport, the TCA cycle, and ATP synthesis. (usda.gov)
These molecules, also known as "messenger RNAs", contain information for the synthesis of proteins. (bionity.com)
Protein synthesis is controlled by genes, which are contained on chromosomes. (msdmanuals.com)

The researchers discovered that reducing an outer mitochondrial membrane protein, FUN14 domain containing 1 (FUNDC1), in cardiac muscle cells , also known as cardiomyocytes, activates and worsens cardiac dysfunction . (medicalxpress.com)
Our study found the formation of MAMs mediated by the mitochondrial membrane protein FUNDC1 was significantly suppressed in patients with heart failure, which provides evidence that FUNDC1 and MAMs actively participate in the development of heart failure," said Dr. Ming-Hui Zou, director of the Center for Molecular and Translational Medicine at Georgia State and a Georgia Research Alliance Eminent Scholar in Molecular Medicine. (medicalxpress.com)
They determined the DNA sequences of the genes that coded for the mitochondrial 12S and 16S ribosomal RNA, and compared them with the aid of a computer. (newscientist.com)
however, oxygen remains in postmortem muscle for hours to support mitochondrial function. (usda.gov)
Genes coding for mitochondrial complexes I (34 of 44), II (3 of 4), III (2 of 10), IV (19 of 9), and V (11 of 20) were more highly expressed at 48 hours postmortem than at death. (usda.gov)
Differentially expressed genes also included ribosomal proteins (85 of 109) as well as mitochondrial ribosomal proteins (40 of 77), suggesting an increase of translational capacity. (usda.gov)
Differences in mechanical and fatigue properties of diaphragm motor units are the result of expression of different contractile proteins and mitochondrial volume densities in corresponding muscle fiber types. (mayo.edu)

The BC3H1 cell line has been used widely as a model for studying regulation of muscle-related proteins, such as the acetylcholine receptor, myokinase, creatine kinase, and actin. (silverchair.com)
[ 1 ] Genetic testing, creatine kinase (CK) studies, muscle biopsy, and histologic examination can be used in the evaluation of LGMD. (medscape.com)

Dispersed between the chromosomes are over 20,000 genes, sometimes separated by vast stretches of non-coding DNA, or that which does not encode proteins. (jove.com)

The backbone of the sarcomere is composed of three filament systems: the myosin-based thick filament, the actin-based thin filament, supplemented with the regulatory protein tropomyosin and the troponin complex, and the titin filament. (frontiersin.org)
Titin is a giant protein that spans a half-sarcomere from the Z-disc to the M-line. (frontiersin.org)
Sarcomere assembly is regulated by the muscle protein titin. (wikidoc.org)
Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. (wikidoc.org)
This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. (wikidoc.org)
Sarcomere gene mutations are the primary genetic cause of hypertrophic cardiomyopathy. (healthline.com)

The troponins are regulatory proteins found in skeletal and cardiac muscle. (medscape.com)
Slow muscle α-tropomyosin is found in skeletal muscles, which are the muscles used for movement. (medlineplus.gov)

You might need to be screened for HCM, a genetic condition that causes the heart muscle to become thick and can lead to sudden death. (cdc.gov)
Hypertrophic cardiomyopathy is a common genetic disorder that affects about 1 in 500 1 people and causes the heart muscle to become thicker and stiff. (cdc.gov)
The researchers used mouse neonatal cardiomyocytes, mice with a genetic deletion of the FUNDC1 gene, control mice with no genetic deficiencies and the cardiac tissues of patients with heart failure. (medicalxpress.com)
Along with the complex arrangement of genetic material in a cell's nucleus, human genes also demonstrate their own unique organization. (jove.com)
The vaccine uses lipid nanoparticles, or fat bubbles, to deliver bits of genetic material that encode instructions for making the SARS-CoV-2 spike protein-the red protuberances in the iconic virus image-which the coronavirus uses to enter human cells. (poz.com)
DMD is a genetic disorder resulting in near absence of the dystrophic protein in muscles. (medscape.com)
In this type of genetic cardiomyopathy, fat and extra fibrous tissue replace the muscle of the right ventricle. (healthline.com)
Becker muscular dystrophy (BMD ) is one of nine types of muscular dystrophies, a group of genetic, degenerative diseases primarily affecting voluntary muscles. (mda.org)
Gene therapies "fix" genetic mutations by replacing or changing a gene that doesn't work with one that does. (medlineplus.gov)
These treatments "fix" the genetic mutations (harmful changes) that cause some diseases by replacing or changing a gene that doesn't work with one that does. (medlineplus.gov)
The genotype (or genome) is a person's unique combination of genes or genetic makeup. (msdmanuals.com)
genetic testing, muscle biopsy and muscle imaging. (who.int)

Identification of the mouse beta'-COP Golgi component as a spermatocyte autoantigen in scleroderma and mapping of its gene Copb2 to mouse chromosome 9. (nih.gov)
A chromosome contains hundreds to thousands of genes. (msdmanuals.com)
A chromosome contains many genes. (msdmanuals.com)

This gene encodes the alpha subunit of the barbed-end actin binding protein. (wikipedia.org)

The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells' ability to generate and transmit electrical signals. (medlineplus.gov)
These mutations alter the structure of ion channels made with the SCN5A protein and disrupt the flow of sodium ions into cardiac muscle cells. (medlineplus.gov)
In individuals with this condition the cardiac muscle takes longer than usual to recharge between beats. (medlineplus.gov)
Channels made with these altered SCN5A proteins stay open longer than usual, which allows sodium ions to continue flowing into cardiac muscle cells abnormally. (medlineplus.gov)
Reducing a protein found in the mitochondria of cardiac muscle cells initiates cardiac dysfunction and heart failure, a finding that could provide insight for new treatments for cardiovascular diseases, a study led by Georgia State University has shown. (medicalxpress.com)

However, when BC3H1 cells differentiate in response to incubation in serum-deprived medium or upon approaching confluence, they express TnT as well as sarcomeric muscle isoforms of MHC, MLC 2 and 3, alpha-Tm, and alpha-actin. (silverchair.com)
Differential splicing of the titin gene results in numerous species- and muscle-specific titin isoforms. (frontiersin.org)
Muscle biopsies of affected patients display impaired membranetrafficking of both POPDC isoforms. (imperial.ac.uk)
T, p.V183F) displayed only askeletal muscle pathology and a mild impairment of membrane trafficking of both POPDC isoforms. (imperial.ac.uk)
Multiple transcript variants encoding different isoforms have been found for this gene. (origene.com)

CAPZA1 is a member of the F-actin capping protein alpha subunit family. (wikipedia.org)

Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. (medlineplus.gov)

In vertebrates, overexpression of facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) recapitulates the pathophysiology exhibited by FSHD patients, although the role of FRG1 in FSHD remains controversial and no precise function for FRG1 has been described in any organism. (illinois.edu)
His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G). (nih.gov)
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle wasting disease that weakens the face, arm and shoulders. (edu.au)
Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. (wikidoc.org)
Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
In 1891, Erb put forward the concept of muscular dystrophies as a primary degeneration of muscle and coined the term "dystrophia muscularis progressiva. (medscape.com)
This article describes two rare diseases - spinal muscular atrophy and Duchenne muscular dystrophy - and how NIH supports research and development on gene therapies to treat them. (medlineplus.gov)
Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)
Limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder generated by inactivating mutations in the gene coding for the muscle specific protease calpain-3. (lu.se)

Introns are excised once the sequence is transcribed to mRNA, leaving only exons to code for proteins. (jove.com)

Enzymes are complex proteins that control and carry out nearly all chemical processes and reactions within the body. (msdmanuals.com)

Publications] Katayama,M.: 'The postーtranslationally modified Cーterminal structure of bovine aortic smooth muscle rhoA p21. (nii.ac.jp)

Cold-induced constriction is mediated in part by enhanced activity of alpha(2C)-adrenoceptors (alpha(2C)-ARs) located on vascular smooth muscle cells (VSMs). (cdc.gov)
17beta-Estradiol (0.01-10 nmol/l) increased expression of the alpha(2C)-AR protein and the activity of the alpha(2C)-AR gene promoter in human cultured dermal VSMs, which was assessed following transient transfection of the cells with a promoter-reporter construct. (cdc.gov)
The expression of sarcomeric muscle-specific contractile protein genes in BC3H1 cells: BC3H1 cells resemble skeletal myoblasts that are defective for commitment to terminal differentiation. (silverchair.com)
These cells, derived from a nitrosourea-induced mouse brain neoplasm, have some of the morphological characteristics of smooth muscle and have been shown to express the vascular smooth muscle isoform of alpha-actin. (silverchair.com)
To provide further information about the contractile protein phenotype of BC3H1 and to gain additional insights into the possible tissue of origin of these cells, we have examined the expression of a battery of contractile protein genes. (silverchair.com)
The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. (nih.gov)
PRISM/PRDM6, a transcriptional repressor that promotes the proliferative gene program in smooth muscle cells. (nih.gov)
In non-muscle cells, tropomyosin proteins play a role in controlling cell shape. (medlineplus.gov)
Hypertrophic cardiomyopathy is caused by one or more gene mutations within the proteins of heart muscle cells. (news-medical.net)
Both mutations lead to production of a protein that is toxic to muscle cells, leading to progressive muscle weakening. (edu.au)
Calreticulin, a 60 kDa Ca-binding protein, is a major ER component of non-muscle cells. (bio.net)
Its stem cells contain the proteins SMEDWI-2 and SMEDWI-3. (bionity.com)
to find regulatory genes of the achaete-scute complex (AS-C). The AS-C comprises four proneural genes that confer to cells the ability to become neuroblasts or sensory organ mother cells ( Campuzano and Modolell, 1992 , review). (biologists.com)
Without it, damage to muscle cells build up causing the muscles to get weaker and break down. (medlineplus.gov)
Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic acid (RNA) molecules. (msdmanuals.com)
Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
Blood platelets are cells which lack a nucleus and which do not produce their own proteins", says Olof Gidlöf. (lu.se)
Scientists were initially interested in somatic-cell nuclear transfer as a means of determining whether genes remain functional even after most of them have been switched off as the cells in a developing organism assume their specialized functions as blood cells, muscle cells, and so forth. (who.int)
The fact that the DNA of a fully differentiated (adult) cell could be stimulated to revert to a condition comparable to that of a newly fertilized egg and to repeat the process of embryonic development demonstrates that all the genes in differentiated cells retain their functional capacity, although only a few are active. (who.int)

Tropomyosin proteins regulate the tensing of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. (medlineplus.gov)
These mutations change single amino acids in slow muscle α-tropomyosin and are thought to impair the protein's ability to interact with myosin and actin within type I skeletal muscle fibers, disrupting muscle contraction. (medlineplus.gov)
The sarcomeres represent the contractile element, which is composed of actin, myosin, and Z-band proteins (see image below). (medscape.com)

Slow muscle α-tropomyosin helps regulate muscle contraction in type I skeletal muscle fibers. (medlineplus.gov)
As a result, silencers help to regulate gene expression. (jove.com)
However, these intergenic regions carry important elements that regulate gene activity, for instance, the promoter where transcription starts, and enhancers and silencers that fine-tune gene expression. (jove.com)
They regulate metabolism, ensuring that genes needed to process food are active during the day when people normally consume calories. (utsouthwestern.edu)
Their main function is instead to regulate the activity of genes. (lu.se)

In eukaryotic genomes, genes are separated by large stretches of DNA that do not code for proteins. (jove.com)
The DNA damage-recognition problem in human and other eukaryotic cell: the XPA damage binding protein. (ncl.edu.tw)

F-actin-capping protein subunit alpha-1 is a protein that in humans is encoded by the CAPZA1 gene. (wikipedia.org)
It has been shown that muscle protein synthetic rate (MPS) is elevated in humans by 50% at 4 hrs following a bout of heavy resistance training, and by 109% at 24 hrs following training. (researchgate.net)
Humans have about 20,000 to 23,000 genes. (msdmanuals.com)

An average of 58.5 million paired-end reads were collected from each library, mapped to Sscrofa 11.1 assembly and differential gene expression was determined using DESeq2. (usda.gov)
To examine gender-dimorphic regulation of skeletal muscle proteins between healthy control and STZ-induced diabetic rats of both genders, we performed differential proteome analysis using two-dimensional electrophoresis combined with mass spectrometry. (karger.com)
Proteomic analysis of skeletal muscle identified a total of 21 proteins showing gender-dimorphic differential expression patterns between healthy controls and diabetic rats. (karger.com)
Most interestingly, gender-specific proteome comparison showed that male and female rats displayed differential regulation of proteins involved in muscle contraction, carbohydrate, and lipid metabolism, as well as oxidative phosphorylation and cellular stress. (karger.com)

In rare cases, Sarc− HCM cases may be caused by pathogenic variants in non-sarcomeric genes. (mdpi.com)

The current proteomic study revealed that impaired protein regulation was more prominent in the muscle tissue of female diabetic rats, which were more susceptible to STZ-induced diabetes. (karger.com)
Robert A. Clark Medicine Department, University of Texas Health Science Center, San Antonio, TX, USA Transcriptional regulation and promoter characterization of the calreticulin gene. (bio.net)
Iana Kim, first author of the new study, in a laboratory of the research group "Gene Regulation by Non-coding RNA" at the University of Bayreuth. (bionity.com)
Evidence is accumulating that small G proteins are involved in the regulation of cell growth and differentiation. (nii.ac.jp)
The higher expression of gremlin 1 and HIF1a genes after exposure to dragonfly larvae indicated an in vivo hypoxic reaction, while down-regulation of syndecan-2 may indicate impairment of angiogenesis. (biomedcentral.com)
And disadvantages of taking Stanozolol it just means you transcriptional regulation of the genes encoding P-450 steroid hydroxylases. (mdtmag.com)

Research in Dr. Sieck's Cell and Regenerative Physiology Laboratory focuses on motor neurons and neuromotor control of muscle contraction. (mayo.edu)
This study assessed the time course of changes to detrusor autonomic innervation, smooth muscle (SM) content and cholinergic-mediated contraction post-BPNI. (lu.se)

However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)
It is mainly expressed in skeletal muscle as a monomeric multidomain protein characterized by three unique insertion sequences (NS, IS1, IS2). (lu.se)

Most gene expression studies for identification of meat quality candidate genes involve tissues collected at death, though studies have reported many genes to be upregulated postmortem (thanatotranscriptome). (usda.gov)
The differences in gene expression profiles induced by the two predators suggest that there are functional differences between the altered tail tissues of the two groups of tadpoles. (biomedcentral.com)
If Extramacrochaetae par-ticipates in cell specification by dimerizing with basic-region-helix-loop-helix proteins, the variety of defects and tissues affected by the insufficiency of extramacrochaetae suggests that helix-loop-helix proteins are involved in many embryonic developmental processes. (biologists.com)
Proteins are not just building blocks for muscles, connective tissues, skin, and other structures. (msdmanuals.com)

Identification of one 50.2 and one 29-kDa UV-damage-DNA binding factor in 12-hr-old zebrafish extracts by EMSA linked to SDS-PAGE and determined by MALDI TOF analysis, indicated that the 29-kDa and 50.2-kDa polypeptides are high homologous to zebrafish fast skeletal muscle troponin T and vitellogenin. (ncl.edu.tw)
Structure and evolution of the alternatively spliced fast troponin T isoform gene. (ncl.edu.tw)

A muscle biopsy specimen showed moderate dystrophic changes and patchy dysferlin expression in the sarcolemma. (nih.gov)
Western blot of both PBMs and skeletal muscle demonstrated a significant reduction in dysferlin. (nih.gov)
The diagnosis of symptomatic carriers of dysferlin mutations should be considered when a pathologic pattern of dysferlin protein is observed. (nih.gov)
A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis. (nih.gov)

Dr. Sieck's team has also developed a novel targeted gene therapy approach to increase TrkB expression in phrenic motor neurons using an adeno-associated virus. (mayo.edu)
In the bigger picture, these new treatment options need to be weighed against the possibility of cure of hemophilia through gene therapy: two adeno-associated virus (AAV) vector-based products have been approved for clinical use, and more are in the pipeline. (cdc.gov)

Since this RNA will be used to generate proteins, exons are denoted as coding regions, whereas introns are another example of non-coding material. (jove.com)
Among them a promoter, exons, introns, and regulatory elements, which together help to determine protein expression in a cell. (jove.com)
Genes themselves consist of protein-coding exons and non-coding introns. (jove.com)

The human genome contains several non-transcribed pseudogenes of this gene. (origene.com)

The most overrepresented pathways included ribosomal protein, protein translation, oxidative phosphorylation and cytochrome-C oxidase activity. (usda.gov)

the gamma (γ) protein component (subunit) of the acetylcholine receptor (AChR) protein. (nih.gov)
of a larger protein called a neuronal nicotinic acetylcholine receptor (nAChR). (nih.gov)
making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. (nih.gov)
protein found in the muscle cell membrane called acetylcholine receptor (AChR). (nih.gov)

ELAV - like1 , methyltransferase like 7A , dolichyl-phosphate mannosyltransferase , laminin subunit beta-1 , gremlin 1 , BCL6 corepressor-like 1 , and three genes of unknown identity. (biomedcentral.com)

For more about the way gene mutations cause BMD, see Causes/Inheritance . (mda.org)
In some rare diseases, DNA mutations cause a gene or protein to work incorrectly. (medlineplus.gov)

Transient transfection of VSMs with a dominant-negative mutant of Rap2 inhibited the 17beta-estradiol-induced activation of the alpha(2C)-AR gene promoter, whereas a constitutively active mutant of Rap2 increased alpha(2C)-AR promoter activity. (cdc.gov)
Interestingly, overexpressed FRG-1 preferentially accumulates in the nucleus and, when overexpressed specifically from the frg-1 promoter, disrupts the adult ventral muscle structure and organization. (illinois.edu)
Key to the organization of an individual gene is its promoter, to which machinery, especially RNA polymerase, can attach. (jove.com)
Proteins called repressors bind to these regions, preventing polymerase-promoter association, inhibiting transcription. (jove.com)
Through clinical HBB gene sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis, as well as targeted Nanopore long read sequencing of selected genes, we performed a complete analysis of HBB including the promoter region, 5'UTR and coding gene sequence, as well as evaluation for potential modifier variants and other rare structural variants. (bvsalud.org)

The SCN5A gene mutations that cause sick sinus syndrome lead to the production of nonfunctional sodium channels or abnormal channels that cannot transport ions properly. (medlineplus.gov)
The problem originates in the ventricles of the heart as a result of abnormal electrical signaling due to scarred heart muscle tissue. (news-medical.net)
It's a rare disease present at birth and is caused by abnormal development of the heart muscle in the womb. (healthline.com)
Clock genes are also in the skin , where an enzyme that protects against the sun's harmful ultraviolet radiation loses its potency if eating occurs at abnormal times. (utsouthwestern.edu)

Advances in molecular genetics have help in the discovery of significant information on the relationship between muscle biology and clinical neuromuscular diseases. (medscape.com)

Significance any steroid user for conditions associated with a deficiency or absence avoid this by shifting water from outside the muscle cell, to the inside. (mdtmag.com)
This data will allow for analysis of the selected steroid hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of diseases, such as Polycystic Ovary Syndrome (PCOS), androgen deficiency, certain cancers, and hormone imbalances. (cdc.gov)

Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 19. (nih.gov)
Titin-cap (telethonin) , also known as TCAP , is a human gene . (wikidoc.org)
The binding activity expressed in embryos was apparently unrelated to human DNA repair damage-recognition proteins XPA、RPA-70 and RPA-32, since those polypeptides recognized by an anti-human XPA、RPA-70 and RPA-32 antibody were detected only in 84-h-old zebrafish extracts. (ncl.edu.tw)
Characterization of DNA recognition by the human UV-damaged DNA-binding protein. (ncl.edu.tw)
Full length human recombinant protein of human LDHA (NP_005557) produced in HEK293T cell. (origene.com)
The discovery and cloning of the CLOCK gene by Dr. Joseph Takahashi in the 1990s elevated circadian rhythms research beyond fruit flies and put scientists in position to unlock many of the mysteries of human health and behavior. (utsouthwestern.edu)
But a series of more recent advancements - notably the first circadian gene in mammals discovered by UT Southwestern's Dr. Joseph S. Takahashi - has elevated the research beyond flies and positioned scientists to unlock many of the mysteries of human health and behavior. (utsouthwestern.edu)
Subsequent research has established CLOCK as a prominent regulator of other biological clock genes and a key target to better understand the primary underpinnings of human nature. (utsouthwestern.edu)

Genes are contained in chromosomes, which are in the cell nucleus. (msdmanuals.com)

Genes consist of deoxyribonucleic acid (DNA). (msdmanuals.com)

We examined the acute effects of different dietary protein sources (0.19 g, dissolved in 1 ml of water) on skeletal muscle, adipose tissue and hypothalamic satiety-related markers in fasted, male Wistar rats (~250 g). (biomedcentral.com)
Higher amounts of whey versus egg protein stimulate the greatest post-treatment anabolic skeletal muscle response, though test proteins with higher amounts of WPH more favorably affected post-treatment markers related to adipose tissue lipolysis. (biomedcentral.com)
an effect which may be explained by an increased expression of adipose tissue lipolysis-related gene expression patterns following chronic supplementation [ 12 ], an increase in protein-induced thermogenesis (reviewed in [ 15 ]), and/or a consistent reduction in food intake given its satiety-stimulatory effects as discussed above. (biomedcentral.com)
Reverse transcription PCR of the muscle tissue indicated enterovirus RNA. (cdc.gov)
The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. (origene.com)

A team of researchers at the University of Bayreuth led by biochemist Dr. Claus Kuhn now reveals insights into the mode of action of these proteins in more detail. (bionity.com)
The Bayreuth researchers discovered that the aforementioned two proteins bind to small RNAs, known as piRNAs. (bionity.com)
Moreover, the Bayreuth researchers have discovered another function for SMEDWI-3: some piRNAs that SMEDWI-3 binds to do not subsequently target jumping genes but instead recognize mRNAs. (bionity.com)

Importantly, jumping genes have the habit of constantly changing their position within the genome, thereby triggering mutations. (bionity.com)
Concern is mounting that other gene therapies for rare diseases will meet a similar fate, as might upcoming treatments that rely on the related technique of genome editing, which makes targeted DNA changes. (cdc.gov)

We have found that the C-terminal systeine residues of smg p21B, rhoA p21, and smg p25A are geranylgeranylated, and that these prenylation are essential for each small G protein to bind to membranes. (nii.ac.jp)

The objectives of this study were to determine changes in gene expression within the postmortem interval and relate these affected genes and pathways to QTL for pork quality. (usda.gov)

For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. (medlineplus.gov)

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. (nih.gov)
DDB, a putative DNA repair protein, can function as a transcriptional partner of E2F1. (ncl.edu.tw)

The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. (medlineplus.gov)

If the germline variant is classified as a pathogenic or likely pathogenic variant and occurs in a gene known to be associated with a disease relevant to the patient's phenotype (for example, the identification of a DDX41 pathogenic variant in an individual with acute myeloid leukemia), the management algorithm is typically quite straightforward. (bvsalud.org)
Challenging situations may occur such as when the germline variant is classified as a pathogenic or likely pathogenic variant and occurs in a gene not known to be associated with the patient's phenotype/presenting complaint. (bvsalud.org)

Channels made with this altered protein allow little or no sodium to enter the cell. (medlineplus.gov)
These results suggest that BC3H1 is a skeletal muscle cell line of ectodermal origin that is defective for commitment to terminal differentiation. (silverchair.com)
We aim to study the coupling between LTCC and β adrenergic receptors in different cardiomyocyte microdomains, the distinct involvement of PKA and CAMKII (Ca2+/calmodulin-dependent protein kinase II) and explore how this functional complex is disrupted in heart failure.Methods:Global signaling between LTCCs and β adrenergic receptors was assessed with whole-cell current recordings and western blot analysis. (imperial.ac.uk)
In contrast to necrosis, this form of cell death is a gene-mediated, energy-dependent event. (massgeneral.org)
Furthermore, calreticulin modulates gene expression, is a chaperone and affects cell adhesion. (bio.net)
Gary C. Sieck, Ph.D., studies the cell signaling mechanisms that underlie muscle performance. (mayo.edu)
Functional analyses indicated that some of the genes induced by dragonfly larvae caused an increase in laminins necessary for cell adhesion in the extracellular matrix. (biomedcentral.com)
One end is specialized for linking to the muscle interior, and the other end for linking to a variety of proteins at the cell membrane. (mda.org)
Among the major strategies are gene replacement, gene modification, stem cell use, inhibiting a protein called myostatin, expanding the distribution and increasing the level of a protein called utrophin, and increasing blood flow to muscles. (mda.org)
It also occurs at regions of specialized cell-cell contact and/or cell recognition, like the epidermal part of the muscle attachment sites and the differentiating CNS. (biologists.com)

Muscle histopathologic findings from a biopsy of the quadriceps showed features of an inflammatory myopathy (interstitial edema, perivascular lymphocytic cuffing, and degenerating fibers) consistent with the features of early dermatomyositis. (cdc.gov)

Critically ill patients also have insulin resistance, which leads to hyperglycemia, decreased glucose uptake in muscle, enhanced gluconeogenesis and glycogenolysis and decreased protein anabolism. (massgeneral.org)
While there's no known cure for DMD, treatments such as gene therapy can control symptoms in some patients. (medscape.com)
Research shows corticosteroids improve muscle strength and function in boys with DMD with guidelines recommending them as an option for all newly diagnosed patients. (medscape.com)
It is important to understand how rhythmic diaphragm muscle activity can be restored in patients with spinal cord injury. (mayo.edu)
May at any time revise or modify following are the common physical side effects in women : Both males many benefits like: Enhanced muscle mass and density Normalized levels of testosterone in patients in hypogonadism Increased weight loss Controlled menopause-related symptoms No erectile dysfunction Improved athletic performance Treatment. (mdtmag.com)
Genomic profiling to identify myeloid-malignancy-related gene mutations is routinely performed for patients with suspected or definite myeloid malignancies. (bvsalud.org)
From the abstract: 'Rare and ultra-rare diseases have been central to the field of gene therapy since its earliest stage, and we are now witnessing more and more effective treatments entering the clinical realm for patients in need. (cdc.gov)
However, despite promising results across a range of rare diseases, transformative gene therapies may not be available and accessible to patients for non-medical reasons. (cdc.gov)
Gene Therapy in Patients with the Crigler-Najjar Syndrome. (cdc.gov)

Protein-interactions e.g., with muscle ankyrin repeat proteins or muscle LIM-protein link titin to hypertrophic signaling and via p62 and Muscle Ring Finger proteins to mechanisms that control protein quality control. (frontiersin.org)
Hypertrophic cardiomyopathy is a hereditary condition where the heart fails to pump properly because the heart muscles (myocardium) have thickened (hypertrophied) and become stiff. (news-medical.net)

Anatomy52

Organisms16

Diseases24

Chemicals and Drugs85

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology3

Phenomena and Processes47

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena6

Technology, Industry, Agriculture7

Information Science3

Health Care4

Dystrophin13

Mutation7

Weakness28

Antibodies2

Synthesis5

Mitochondrial7

Creatine kinase2

Encode proteins1

Sarcomere6

Found in skeletal2

Genetic12

Chromosome3

Encodes1

Cardiac muscle5

Isoforms5

Alpha subunit1

Skeletal muscles1

Muscular9

MRNA1

Enzymes1

Aortic smooth1

Cells19

Myosin3

Regulate5

Eukaryotic2

Humans3

Differential4

Sarcomeric1

Regulation6

Contraction2

Sequences2

Tissues4

Troponin2

Dysferlin4

Adeno-assoc2

Exons3

Pseudogenes1

Ribosomal1

Acetylcholine receptor4

Subunit1

Mutations cause2

Promoter5

Abnormal4

Genetics1

Deficiency2

Human8

Chromosomes1

Consist1

Tissue5

Researchers3

Genome2

Bind1

Pathways1

Predominantly1

Transcriptional2

Making a protein called1

Pathogenic2

Cell10

Biopsy1

Patients9

Hypertrophic2