• Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa. (wikipedia.org)
  • In most cases, the gene changes (mutations) occur on their own, either in the sperm or egg that a baby develops from. (medlineplus.gov)
  • Autosomal recessive CL is the most common form of inherited neonatal CL and may be attributed to mutations in EFEMP2 ( FBLN4 ), FBLN5 and ATP6V0A2 genes [4] . (rbht.nhs.uk)
  • Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. (rbht.nhs.uk)
  • The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. (rbht.nhs.uk)
  • Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown). (rbht.nhs.uk)
  • The vascular type results from mutations in the COL3A1 gene. (rbht.nhs.uk)
  • PLOD1 gene mutations cause the kyphoscoliosis type. (rbht.nhs.uk)
  • Mutations in the COL1A1 gene or the COL1A2 gene result in the arthrochalasia type. (rbht.nhs.uk)
  • The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. (rbht.nhs.uk)
  • Other, less well-characterised forms of Ehlers-Danlos syndrome result from mutations in additional genes [10] . (rbht.nhs.uk)
  • As a scientist she has been involved in mapping the human genome and identifying genes and mutations, which give rise to heritable disorders. (bepress.com)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Mutations in the ELN-gene are associated with Williams syndrome characterized by tissue abnormalities, cardiovascular defects well as intellectual disability. (elisakits.co.uk)
  • Intermediate filament proteins and the ECM have key roles in cardiac function and their dysregulation may explain cardiac impairment in SMA, especially since mutations in genes encoding these proteins cause other diseases with cardiac aberration. (bvsalud.org)
  • Mutations in this gene have been associated with GM1-gangliosidosis and Morquio B syndrome. (thermofisher.com)
  • Elastosis is the buildup of elastin in tissues, and is a form of degenerative disease. (wikipedia.org)
  • Comparison between fresh and digested tissues shows that, at 35% strain, a minimum of 48% of the arterial load is carried by elastin, and a minimum of 43% of the change in stiffness of arterial tissue is due to the change in elastin stiffness. (wikipedia.org)
  • This is a protein that allows blood vessels and other tissues in the body to stretch. (medlineplus.gov)
  • Elastin tissues are made up of molecules of a protein called tropoelastin, which are strung together in a chain-like structure, and which Weiss and his team have been studying in the lab for many years. (mit.edu)
  • These novel sequences of recombinant DNA are used to produce repetitive proteins to create new types of drugs and bioengineered tissues. (bionity.com)
  • We will combine our mRNAs expression profile (6 TAD tissues versus 6 non-TAD tissues) and GSE52093 downloaded from the Gene Expression Omnibus (GEO) database. (hindawi.com)
  • AAV9-SMN1-mediated gene therapy rectified low levels of survival motor neuron protein and restored desmin levels in heart tissues of Smn2B/- mice. (bvsalud.org)
  • Elastin allows for the tissues to stretch and return to their original state and hence is present in the ECM of blood vessels, lungs, and skin. (medscape.com)
  • Elastin is one of the main components of the skin, but it is also present in a variety of body tissues and organs, such as blood vessels, cartilage, lungs, and the heart. (doctorsaliarmo.com)
  • Additionally, immunohistochemistry (IHC) was performed in multiple ovarian cancers, benign tumours and normal tissues to evaluate Gli2 and MMP-7 protein expression. (jcancer.org)
  • The ELN gene encodes a protein that is one of the two components of elastic fibers. (wikipedia.org)
  • The reports on base sequences of spider silk protein genes have gained importance as the mechanical properties of silk fibers have been revealed. (bioone.org)
  • The expression of elastin and the formation of fibers reach their peak during fetal development and early postnatal development. (elisakits.co.uk)
  • These mature elastic fibers are lasting proteins that can endure stretching and recoiling throughout a person's lifetime. (elisakits.co.uk)
  • About 90% of the elastic fibers are made up of elastin, while the remaining components are made up of fibrillin glycoproteins. (lionhearthealthstim.com)
  • Tropoeplastin is a unique protein that allows the self-assembly of elastic fibers to occur. (lionhearthealthstim.com)
  • Elastin fibers also keep skin tight, and these start to fragment over time. (millburnlaser.com)
  • Losing collagen and elastin fibers are the main reasons that aging symptoms appear. (millburnlaser.com)
  • The feasibility of using recombinant human tropoelastin to enable elastin fiber production to improve skin flexibility in wounds and scarring has been studied. (wikipedia.org)
  • Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7. (medlineplus.gov)
  • Therefore, during development female cells apply epigenetic changes to permanently close down all the genes on one X chromosome. (edu.au)
  • [1] The test reveals a recurring micro-deletion, with a size of 1,551,83 Mb, on chromosome band 7q11.23, which contains 24-28 genes. (physio-pedia.com)
  • The gene is part of a cluster of MMP genes on chromosome 11. (cancerindex.org)
  • Elastin gene on chromosome 7q11.2 encodes ELN. (elisakits.co.uk)
  • There are 1,150 genes and over 940 pseudogenes in this chromosome. (powerofpositivity.com)
  • This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. (cancerindex.org)
  • Elastin is made by linking together many small soluble precursor tropoelastin protein molecules (50-70 kDa), to make the final massive, insoluble, durable complex. (wikipedia.org)
  • Cells such as fibroblasts, smooth muscle cells and chondroblasts synthesize and secrete tropoelastin, which is the precursor of elastin. (elisakits.co.uk)
  • Elastin is also an important load-bearing tissue in the bodies of vertebrates and used in places where mechanical energy is required to be stored. (wikipedia.org)
  • But exactly how this protein-based tissue assembles itself to achieve this flexibility remained an unsolved question - until now. (mit.edu)
  • They can occur when the skin has less elastin and collagen (proteins in facial tissue). (highviolet.com)
  • With the development of the gene expression profile, comparisons of differentially expressed genes that participate in the regulation of pathophysiological conditions in pathological tissue and normal tissue were available and convenient, and mRNAs gene expression profiles have been carried out in many diseases including TAD [ 6 ]. (hindawi.com)
  • Abnormal type IV collagen in glomeruli can prevent the kidneys from adequately filtering the blood and allows blood and protein to pass into the urine, resulting in progressive scarring of kidney tissue [2] . (rbht.nhs.uk)
  • It consists of a variety of proteins, such as collagen and elastin, which give the tissue its strength and flexibility. (medicalnewstoday.com)
  • Human elastin ELISA kit can measure concentrations of ELN (elastin) present is plasma, serum, biological fluids or tissue homogenate samples. (elisakits.co.uk)
  • Lamin A/C was increased in the cardiac tissue, whereas another intermediate filament protein, desmin, was reduced. (bvsalud.org)
  • Both tropoelastin and elastin work toward forming biomaterials used for tissue engineering and regenerative medicine. (lionhearthealthstim.com)
  • In recent years, studies have been examining the variations of spliced ELN mRNA transcriptions, looking into the diversity of these genes and how they could potentially be fine-tuned for better tissue function. (lionhearthealthstim.com)
  • Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to evaluate mRNA expression, and immunoblotting (IB) was conducted to evaluate protein expression. (jcancer.org)
  • Silks are composed principally of proteins with a predominance of alanine, serine and glycine and silk proteins are able to undergo irreversible transformations from soluble protein to insoluble fibres. (bioone.org)
  • Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product. (nutritionaloutlook.com)
  • The production of elastin primarily happens during prenatal and childhood development, but its synthesis tends to slow down during adulthood. (lionhearthealthstim.com)
  • The peptide is believed to work by modifying gene expression involved in the synthesis of these proteins. (sarms4muscle.com)
  • Involved in numerous physiological processes, vitamin H takes part in metabolic processes such as protein synthesis, gluconeogenesis and cell growth. (getpersonalgrowth.com)
  • Gene expression of 13 fibrogenic growth/signaling factors (particularly TGF-β-related genes), matrix proteins, or enzymes involved in matrix production was examined by real-time RT-PCR. (atsjournals.org)
  • Elastin is a highly insoluble matrix protein with very low turnover. (vumc.org)
  • We have been examining the mechanisms of collagen and elastin turnover in pulmonary fibrosis and related diseases. (vumc.org)
  • Elastin-driven genetic diseases. (elisakits.co.uk)
  • Expression of isoforms 1-3 of TGFβ cytokine is influenced by tagging polymorphisms in the TGFβ1, TGFβ2 and TGFβ3 gene, and these SNPs may be associated with the risk of asthma development and severity as well as with other diseases. (researchsquare.com)
  • In addition, in the linear model for prediction of ACT score we showed SNP rs8109627 (p = 0.0497) in the TGF-β1 gene (improvement of the disease control - controlled asthma) and rs2796822 (p = 0.0454) in the TGF-β2 gene (deterioration of the diseases control - uncontrolled asthma) significantly modify the degree of asthma control. (researchsquare.com)
  • Our work relates to eight main themes which consist of the Establishment of assays/methods to study viruses, Studies on Virus Genome characterization, variability, Genotyping/ Serotyping, Studies on viral genes/proteins and their role in disease outcome using Bioinformatics tools, Virus Prevalence and Molecular Epidemiology, Studies on Anti-viral therapy: role of various viral & host factors in treatment response rates and Studies on Virus association with other abnormal conditions/Diseases. (edu.pk)
  • The blood circulating miRNA is mainly derived from a type of exosomes containing a variety of proteins and miRNAs that can be passed between cells and endocytic vesicles. (researchsquare.com)
  • The two expression profile datasets were integrated and we found out coexpression of differentially expressed genes (DEGs) using bioinformatics methods. (hindawi.com)
  • Then we downloaded another microarray dataset GSE52093 [ 9 ] and screened out the coexpression of differentially expressed genes (DEGs) between TAD patients and non-TAD patients. (hindawi.com)
  • Despite limited proteomic overlap, enriched canonical pathways common to two of three SMA severities with at least one differentially expressed protein from the third included mTOR signalling, regulation of eIF2 and eIF4 signalling, and protein ubiquitination. (bvsalud.org)
  • Elastin serves an important function in arteries as a medium for pressure wave propagation to help blood flow and is particularly abundant in large elastic blood vessels such as the aorta. (wikipedia.org)
  • Here, using the same high-resolution proteomics approach in the less-severe Smn2B/- SMA mouse model, 277 proteins were found to be differentially abundant at a symptomatic timepoint (post-natal day (P) 18), 50 of which were similarly dysregulated in severe Taiwanese SMA mice. (bvsalud.org)
  • Bioinformatics analysis linked many of the differentially abundant proteins to cardiovascular development and function, with intermediate filaments highlighted as an enriched cellular compartment in both datasets. (bvsalud.org)
  • Collagen is the most abundant protein in the body and is the most common protein found in the ECM. (medscape.com)
  • For this elastin ELISA kit, it is recommended that a standard curve is generated for each assay carried out. (elisakits.co.uk)
  • For example, red blood cells produce haemoglobin to transport oxygen, whereas skin cells make elastin to keep our skin elastic. (edu.au)
  • Elastin is made up of other components such as tropoelastin - and studying tropoelastin will give us a better idea of how to potentially improve the elastic assembly. (lionhearthealthstim.com)
  • The gene ontology and pathway enrichment of DEGs were performed by DAVID and Kyoto Encyclopedia of Genes and Genomes online analyses, respectively. (hindawi.com)
  • Traditional bioinformatics methods including gene ontology (GO) and pathways enrichment analyses of DEGs combined protein-protein interaction (PPI) network and cytohubber calculating software as well as Molecular Complex Detection (MCODE) analysis were used to analyze the key gene and pathway. (hindawi.com)
  • Whole genome analysis of lung, sampled 24 hours after challenge, showed expression changes of not only genes belonging to several Gene Ontology groups with up-regulation of inflammatory-associated genes and those associated with lung remodeling but also genes involved in downsizing these processes. (cdc.gov)
  • Modulation of Photoaging-Induced Cutaneous Elastin: Evaluation of Gene and Protein Expression of Markers Related to Elastogenesis Under Different Photoexposure Conditions. (doctorsaliarmo.com)
  • Keratin ( / ˈ k ɛr ə t ɪ n / [1] [2] ) is one of a family of structural fibrous proteins also known as scleroproteins . (wikipedia.org)
  • The protein consists of alternating hydrophobic and hydrophilic domains, which are encoded by separate exons, so that the domain structure of tropoelastin reflects the exon organization of the gene. (wikipedia.org)
  • In mammals, the genome only contains one gene for tropoelastin, called ELN. (wikipedia.org)
  • Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides. (elisakits.co.uk)
  • Tropoelastin is encoded by the ELN gene, the set of instructions that produces certain proteins. (lionhearthealthstim.com)
  • Epigenetic modifications are chemical changes to DNA and to certain proteins, called histones, that DNA wraps around. (edu.au)
  • The alpha-lytic protease gene of Lysobacter enzymogenes. (genome.jp)
  • Thoracic aortic dissection (TAD) is a catastrophic disease worldwide, but the pathogenic genes and pathways are largely unclear. (hindawi.com)
  • This study aims at integrating two gene expression profile datasets and verifying hub genes and pathways involved in TAD as well as exploring potential molecular mechanisms. (hindawi.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Unsensitized animals challenged with TMA exhibited also an increased number of macrophages in BAL, but gene expression in the above-mentioned gene pathways was unchanged or down-regulated. (cdc.gov)
  • Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2) and pathogenic variants in the MYH11, ACTA2, MYLK and PRKG1 genes are known causes [13] . (rbht.nhs.uk)
  • The antioxidant properties of curcumin can reduce ROS in cells and eliminate the effects of Advanced Glycation End-products (AGEs) on the divergent regulation of gene expression of receptors. (cosmeticsandtoiletries.com)
  • We show here that this reflects up-regulation of a profibrotic process in the airways but loss of the response in the same genes in the parenchyma. (atsjournals.org)
  • elastin quantity and morphology, and elastases and elastase inhibitors, are implicated in the abnormal elastin degradation. (msdmanuals.com)
  • This material has a remarkable combination of flexibility and durability: Elastin is one of the body's most long-lasting component proteins, with an average survival time comparable to a human lifespan. (mit.edu)
  • almost all of the body's copper is bound to copper proteins. (msdmanuals.com)
  • Spider silk is classified as keratin, [9] although production of the protein may have evolved independently of the process in vertebrates. (wikipedia.org)
  • but by 6 months, when emphysema was present, most genes (9/13) were either at control values or down-regulated below control. (atsjournals.org)
  • At 3 months, several genes that were considerably elevated at 1 month were back to control levels, suggesting that loss of the parenchymal response precedes the development of emphysema. (atsjournals.org)
  • One 96-Well Plate: Pre-coated with anti-elastin antibody. (elisakits.co.uk)
  • In autosomal dominant CL, phenotypic variability is common with some patients carrying genetic variants in the ELN or FBLN5 genes [4] . (rbht.nhs.uk)
  • The precise cause is unknown except in congenital cases where an underlying gene defect (eg, in the ELN , FBLN4 , FBLN5 , ATP6V0A2 , or ATP7A genes) can be identified. (msdmanuals.com)
  • These products are often proteins, but in non-protein coding genes such as ribosomal RNA (rRNA), transfer RNA (tRNA), or small nuclear RNA (snRNA) genes, the product is a functional RNA. (nutritionaloutlook.com)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (wikipedia.org)
  • Polymorphic forms of TGF-β1, TGF-β2 and TGF-β3 genes regulate the degree of bronchial inflammation, deterioration of lung functional parameters in spirometry and elevated level of total IgE. (researchsquare.com)
  • Reactivate youthful genes, lessen inflammation, lessen breakouts and minimize pore appearance, decrease pigmentation by tyrosinase inhibition, and fight free radicals. (islandcosmeceuticals.com)
  • 0.05), and these candidate genes could be used as potential diagnostic biomarkers and therapeutic targets of TAD. (hindawi.com)
  • Current methods for producing these DNA sequences are slow or not robust, the researchers said, which has hindered the development of these increasingly important new classes of protein-based polymers . (bionity.com)
  • The survivin gene coding product consists of 142 amino acids and has a molecular weight of 16.2 KD. (researchsquare.com)
  • The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. (wikipedia.org)
  • Jin Montclare, of Department of Chemical and Biomolecular Engineering, NYU Tandon School of Engineering, will deliver a seminar entitled, ' Responsive Protein Engineered Biomaterials . (nyu.edu)
  • Stickler syndrome is an autosomal dominant disorder , which means a person needs only one altered gene to develop the condition. (medicalnewstoday.com)
  • A key part of the puzzle was the flexibility of the molecule itself, which the team found was controlled by the structure of key regions and the overall shape of the protein. (mit.edu)
  • The team tested the way this flexibility comes about by genetically modifying the protein and comparing the characteristics of the modified and natural versions. (mit.edu)
  • This powerful strategy generates libraries of repetitive genes over a wide range of molecular weights in a 'one-pot' parallel format. (bionity.com)
  • This protein has a spring-like molecular structure that can stretch up to eight times its resting length. (lionhearthealthstim.com)
  • Furthermore, bioinformatics analysis of these proteins highlighted a range of enriched biological processes that include inflammatory responses and compromised integrity of physiological systems including cardiovascular, neurological, and metabolic. (bvsalud.org)
  • Many genes, inflammatory cells and substances secreted by them are involved in the etiopathogenesis of this disease. (researchsquare.com)
  • Inspired by nature's biopolymers, we engineer artificial protein materials with entirely new properties and function. (nyu.edu)
  • As far as diversity and complexity are concerned, proteins are nature's smallest marvels. (gesundheitsindustrie-bw.de)
  • The constituent proteins are normally synthesised in specialised glands where the epithelial cells are responsible for the biosynthesis. (bioone.org)
  • Different cells in our body function in distinct ways because of variations in the proteins made by each cell. (edu.au)
  • More importantly, we are able to harness these structure as well as others to interface with small molecule therapeutics, genes, and cells. (nyu.edu)
  • In previous reports, we identified a set of genes regulated by Hh signalling in ovarian tumour cells among which MMP-7 was identified as a potential Hh target gene candidate. (jcancer.org)
  • In contrast, culturing on Laminin-421 induced the expression of β-cell genes, including Ins1 , MafA , and Glut2 , and significantly improved glucose-stimulated insulin secretion. (nature.com)
  • In contrast, AAV9-SMN1 therapy failed to correct lamin A/C or elastin levels. (bvsalud.org)
  • That insight in itself could prove useful medically, the team says, as it could explain why blood vessels become weakened in people with certain disease conditions, perhaps as a result of a mutation in that gene. (mit.edu)