• These mutations alter the structure or disrupt the production of the pro-α1(VII) chain protein, which affects the production of type VII collagen. (medlineplus.gov)
  • The recessive types of dystrophic epidermolysis bullosa (RDEB) result from mutations in both copies of the COL7A1 gene in each cell. (medlineplus.gov)
  • Most of the COL7A1 gene mutations responsible for RDEB-sev gen result in production of abnormally short pro-α1(VII) chains that cannot form type VII collagen. (medlineplus.gov)
  • Somewhat less severe forms of RDEB, grouped as the generalized and localized types (RDEB-gen and -loc), are caused by other types of mutations. (medlineplus.gov)
  • In many cases, these mutations alter a part of type VII collagen known as the triple helical domain. (medlineplus.gov)
  • Mutations that substitute other amino acids for glycine in this region can disrupt the triple-stranded structure of type VII collagen. (medlineplus.gov)
  • DDEB can also be caused by other types of mutations, particularly changes that affect the folding of type VII collagen. (medlineplus.gov)
  • The meeting program reflects the complexity of the collagen genome, the diversity of the collagen proteome and its functions, variations that result from physiological alterations, and consequences of collagen mutations. (grc.org)
  • Although paradigms have emerged for genotype/phenotype correlation in DEB, some pathogenic mutations in COL7A1 , notably glycine substitutions within the type VII collagen triple helix, may lead to diagnostic difficulties, since certain glycine substitutions can result in either dominant or recessive mutant alleles. (medicaljournals.se)
  • Delineation of glycine substitution mutations into two discrete groups, however, is made difficult by observations that, for some particular glycine substitutions in type VII collagen, the same mutation can result in both dominant and recessive disease. (medicaljournals.se)
  • In screening the COL7A1 gene for mutations in individuals with DEB our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling. (medicaljournals.se)
  • In dominant forms of DEB, the pathogenic mutations typically involve heterozygous (dominant-negative) glycine substitution (GS) mutations within the type VII collagen triple helix (3-5). (medicaljournals.se)
  • Different gene mutations affect the amount, structure, or assembly of different collagens. (msdmanuals.com)
  • Mutations can exist in the genes that encode different types of collagen (eg, type I, III, or V) or collagen-modifying enzymes (eg, lysyl hydroxylase, a collagen-cleaving protease). (msdmanuals.com)
  • Regulation of human COL9A1 gene expression. (wikipedia.org)
  • In skeletal muscle, a similar regulation of gene expression was observed, but in contrast to the tendon response, the effect of eccentric training was significantly greater than the effect of concentric training on the expression of several transcripts. (fasciaguide.com)
  • In this study, we assessed the potential estrogenic effects of dietary phytoestrogens at the gene expression level, together with traditional biologic end points, using estrogen-responsive tissues of the immature female rat. (nih.gov)
  • We compared the gene expression profile of the uterus and ovaries, as a pool, obtained using a uterotrophic assay protocol, from intact prepubertal rats fed a casein-based diet (free from soy and alfalfa) or a regular rodent diet (Purina 5001) containing soy and alfalfa. (nih.gov)
  • Estrogenic potency of the phytoestrogen-containing diet was determined by analyzing uterine wet weight gain, luminal epithelial cell height, and gene expression profile in the uterus and ovaries. (nih.gov)
  • Our results indicate that although diet composition has an impact on gene expression in uterus and ovaries, it does not contribute to the effects of an ER agonist. (nih.gov)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • The impact on the osteogenic gene expression of the osteoblastic cells along with alterations in proliferation, caspase cascades and rapamycin induced autophagy response were evaluated. (frontiersin.org)
  • After irradiation, histological staining, immunohistochemical staining, and gene expression analysis were conducted following 1 or 14 days of in vitro culture (DIV). Our data indicated a significant loss of proliferating chondrocytes at 1 DIV, which was followed by regeneration attempts through chondrocytic cluster formation at 14 DIV. Accelerated levels of mineralization were observed, which correlated with increased proteoglycan production and secretion into the pericellular matrix. (mdpi.com)
  • Therefore, this in vitro study examined the effects of varying exposure times and concentrations of TXA on proliferation rates, gene expression and differentiation capacity of chondrocytes and human mesenchymal stromal cells (hMSCs), which underwent osteogenic differentiation. (uni-wuerzburg.de)
  • β-Aminopropionitrile may impair tendon healing at a cellular level by decreasing collagen production or increasing rate of degradation of existing matrix. (avma.org)
  • Immunostaining and confocal fluorescence microscopy show that the ECM proteins fibronectin, collagen I, and laminin are deposited throughout the entire 3D structure. (nature.com)
  • TGF-β1 is a multifunctional cytokine that has been shown to promote fibroblast proliferation and drive the stable accumulation of ECM proteins particularly collagen and fibronectin in vivo 14 , 15 . (nature.com)
  • Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. (medlineplus.gov)
  • Other significantly down-regulated genes included those coding osteocalcin, bone morphogenetic proteins (-3, -4 and -7), collagens (-1a1, -14a1) or Phex . (frontiersin.org)
  • Western blotting and immunohistochemistry were used to measure the expression levels NF‑κB and TGF‑β1 pathway proteins in the myocardial tissues. (spandidos-publications.com)
  • KX significantly reduced the inflammatory response at 21 days by decreasing the expression levels of CK‑MB, LDH, cTn‑I, IL‑1β, IL‑6, TNF‑α and TGF‑β‑activated kinase 1‑binding protein 1/NF‑κB pathway proteins. (spandidos-publications.com)
  • Expression of proteins of TGF-beta 1, TIMP-1, and MMP-13 were detected by Western blotting. (nih.gov)
  • Oxygen tension and cytokines have been shown to influence trophoblast VEGF expression, suggesting that this particular family of angiogenic proteins plays an important role in placental angiogenesis [3]. (who.int)
  • Cardiac collagen metabolism is regulated by cardiac fibroblasts which express mRNAs for types I and III collagens, the major fibrillar collagens in the heart, and for interstitial collagenase or matrix metalloproteinase (MMP) 1 which is the key enzyme for interstitial collagen degradation. (springer.com)
  • Skeletal muscle mRNA expression of the myokine IL-6 was higher in 0·25 %-BEE relative to HFD. (cambridge.org)
  • Protein production and collagen type-III mRNA expression were reduced in these cells. (avma.org)
  • In addition, an apparent diffuse increase in alpha1(III) procollagen mRNA expression was observed. (cdc.gov)
  • When fibroproliferation ensues after a single discrete injury, the process can be reversible or result in a durable scar comprising highly cross-linked collagens and other extracellular matrix (ECM) components. (jci.org)
  • Hepatic fibrogenesis is a process where excessive deposition of extracellular matrix components, especially collagen, occurs due to an imbalance between the amount of matrix macromolecules produced versus degraded in the liver. (nih.gov)
  • Another type of very important signaling molecules of wound healing is growth factors, which activate skin cell proliferation and extracellular matrix components reorganization, by promoting extracellular metalloproteinase production. (hindawi.com)
  • To further investigate the effects of 15-LO-1 on chondrocyte functions, such as extracellular matrix (ECM) secretion, the release of matrix-degrading enzymes, the production of reactive oxygen species (ROS), cell proliferation and apoptosis, we decreased or increased 15-LO-1 expression in chondrocytes by means of transfecting with siRNA targeting 15-LO-1 and plasmid encoding 15-LO-1, respectively. (nature.com)
  • CNT-induced fibrosis involves a multitude of cell types and is characterized by the early onset of inflammation, oxidative stress and accumulation of extracellular matrix. (cdc.gov)
  • We also studied the role of MK5 in cardiac fibroblast function and in extracellular remodeling in healthy heart in vitro using MK5 wild type (MK5+/+), haplodeficient (MK5+/-), deficient (MK5-/-), and siRNA-mediated knockdown (MK5-kd) fibroblasts. (umontreal.ca)
  • Furthermore, possible differential effects of specific contraction types on collagen regulation have not been investigated. (fasciaguide.com)
  • 13. LARP6 Meets Collagen mRNA: Specific Regulation of Type I Collagen Expression. (nih.gov)
  • In order to elucidate the role of the RAAS effector hormones, angiotensin II (AngII) and aldosterone (ALDO), in the regulation of collagen synthesis or inhibition of MMP 1 production, adult human cardiac fibroblasts were cultured. (springer.com)
  • Although there are genes whose expression differs in animals fed the soy/alfalfa-based diet versus the casein diet, those genes are not associated with estrogenic stimulation. (nih.gov)
  • The expression of genes well known to be estrogen regulated, such as progesterone receptor, intestinal calcium-binding protein, and complement component 3, is not affected by consumption of the soy/alfalfa-based diet when assessed by microarray or quantitative reverse transcriptase-polymerase chain reaction analysis. (nih.gov)
  • The formation of autophagosomes was not altered in rapamycin-treated caspase-8 deficient cells, but expression of some autophagy-related genes, including Tnfsf10 , Cxcr4 , Dapk1 and Igf1 , was significantly downregulated. (frontiersin.org)
  • To study how Allogro® can induce osteoblast differentiation in mesenchymal stem cells, the expression levels of bone related genes and mesenchymal stem cells marker were analyzed, using real time Reverse Transcription-Polymerase Chain Reaction. (ispub.com)
  • To investigate the osteogenic differentiation of PB-hMSCs, the quantitative expression of the mRNA of specific genes, like transcriptional factors (RUNX2), bone related genes (SPP1, COL1A1, COL3A1, BGLAP, ALPL, and FOSL1) and mesenchymal stem cells marker (CD105) were examined by means of real time Reverse Transcription-Polymerase Chain Reaction (real time RT-PCR). (ispub.com)
  • A cell proliferation assay, alkaline phosphatase (ALP) activity assay, alizarin red staining, and expression analysis of osteoblastic genes were carried out to assess MC3T3-E1 cell proliferation and osteoblastic differentiation. (degruyter.com)
  • The present study assessed the effects of two types of selected aerobic exercises prior to stroke induction and characterized the expression of TrkB, TNF- α , and MMP2 genes in vivo. (hindawi.com)
  • Effects of TXA on cell morphology were examined via light microscopy and histological staining, while expression levels of tissue-specific genes were measured using semiquantitative RT-PCR. (uni-wuerzburg.de)
  • TXA treatment with 50 mg/mL for at least 24 h led to a decrease in the expression of specific marker genes in chondrocytes and osteogenically differentiated hMSCs. (uni-wuerzburg.de)
  • Increased reactive oxygen species activate various cytokine/growth factor signaling cascades resulting in increased expression of inflammatory and fibrotic genes. (cdc.gov)
  • Profibrotic growth factors and cytokines contribute directly to fibroblast proliferation and collagen production. (cdc.gov)
  • Collagen synthesis was determined by 3 H-proline incorporation, and MMP 1 activity by degradation of 14 C-collagen measured under serum-free conditions in confluent fibroblasts after 24 hour-incubation with either AngII or ALDO over a wide range of concentrations (10 -11 -10 -6 M). In addition, the effects of the mineralocorticoid, deoxycorticosterone (DOC), and prostaglandin E 2 (PGE 2 ) on cardiac fibroblast function were determined. (springer.com)
  • Furthermore, AngII significantly decreased MMP 1 activity while ALDO or DOC had no effect on cardiac fibroblast-mediated collagen degradation. (springer.com)
  • Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. (wikipedia.org)
  • Osteoarthritis is the most common type of joint disease, affecting more than 30 million individuals in the United States alone. (medscape.com)
  • Recent data suggest that individuals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell carcinoma (SCC) in the presence of the NC1 domain of type VII collagen. (nih.gov)
  • Researchers classify dystrophic epidermolysis bullosa into a few major types based on the inheritance pattern and features of the condition. (medlineplus.gov)
  • In contrast, collagen synthesis of cardiac fibroblasts was significantly decreased by PGE 2 treatment. (springer.com)
  • Using a quantitative adhesion assay, we estimated that 120 min after plating only 30% of integrin a11-deficent cells were able to attach to collagen I. In contrast, at the same time point, 70% of integrin a2-knockdown hMSC were attached while integrin a1- and shRNA control hMSC have already reached 100% cell adhesion. (uni-muenchen.de)
  • Furthermore, a time lapse-based investigation showed that integrin a1- and shRNA control hMSC need approximately 35 min to fully spread on collagen I. In contrast, integrin a2- and a11-knockdown hMSC took approximately double more time for spreading in comparison to shRNA control hMSC. (uni-muenchen.de)
  • rats were killed within 1 hour of the end of the exposure period for determination of mRNA content as well as collagen and total protein synthesis rates. (cdc.gov)
  • Compared with untreated control fibroblasts, collagen synthesis, normalized per total protein synthesis, showed a significant and dose-dependent increase after incubation with either mineralocorticoid hormone, ALDO or DOC, or after incubation with AngII. (springer.com)
  • This conclusion was based on experimental work in which cryosections of SCCs from 10 people with RDEB all showed positive type VII collagen immunostaining and observations in a murine model of SCC development in which tumors only occurred using keratinocytes from RDEB subjects that expressed detectable levels of the NC1 domain of the type VII collagen protein. (nih.gov)
  • To assess whether the clinical interpretation was valid in another cohort of RDEB patients, we examined expression of type VII collagen in 17 SCC tumors excised from 11 patients. (nih.gov)
  • Then the molecules arrange themselves into long, thin bundles of mature type VII collagen. (medlineplus.gov)
  • When the abnormally shaped collagen molecules are incorporated into anchoring fibrils, they interfere with the fibrils' normal function and prevent them from effectively connecting the epidermis and the dermis. (medlineplus.gov)
  • Inflammation increases swelling and decreases blood flow, leading to an increased rate of damage to collagen and elastin," says Dr. Heskett. (wellandgood.com)
  • The trauma fools the skin into believing it is damaged and stimulates a healing response, including the formation of collagen and elastin, which make the skin appear firmer, smoother, and younger. (glam.com)
  • For those who are seeking natural-looking results sans injectables, microneedling can be immensely helpful in improving your skin quality by triggering the production of collagen and elastin. (glam.com)
  • Decreased type V collagen expression in human decidual tissues of spontaneous abortion during early pregnancy. (bmj.com)
  • FAP expression is difficult to detect in non-diseased adult organs, but is greatly upregulated in sites of tissue remodelling, which include liver fibrosis, lung fibrosis, atherosclerosis, arthritis, tumours and embryonic tissues. (nih.gov)
  • The levels of lactate dehydrogenase (LDH), creatine kinase‑myocardial band (CK‑MB), cardiac troponin I (cTn‑I), IL‑1β, IL‑6, TNF‑α, TGF‑β1, collagen type I (Col Ⅰ) and collagen type III (Col Ⅲ) were measured by ELISA in the mouse myocardial tissues or serum. (spandidos-publications.com)
  • The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. (medlineplus.gov)
  • Type I collagen is a major component of a synovial capsule and also has been implicated in tissue elasticity of other organs. (elsevierpure.com)
  • RNA was extracted from medial gastrocnemius and Achilles tendon tissue 24 h after the last training bout, and mRNA levels for collagens I and III, TGF-beta-1, connective tissue growth factor (CTGF), lysyl oxidase (LOX), metalloproteinases (MMP-2 and -9) and their inhibitors (TIMP-1 and 2) were measured by Northern blotting and/or real-time PCR. (fasciaguide.com)
  • In conclusion, the study supports an involvement of TGF-beta-1 in loading-induced collagen synthesis in the muscle-tendon unit and importantly, it indicates that muscle tissue is more sensitive than tendon to the specific mechanical stimulus. (fasciaguide.com)
  • The Collagen Gordon Research Conference has convened biennially for the last 38 years and will continue to present cutting-edge research on a wide range of topics on structure, biology and pathology of collagens and their ligands in development, tissue homeostasis and pathology. (grc.org)
  • SCAP-developed resources have been used by the Genotype-Tissue Expression (GTEx) program and the Human BioMolecular Atlas Program (HuBMAP) , among others. (nih.gov)
  • Ehlers-Danlos syndromes are hereditary collagen disorders characterized by joint hypermobility, dermal hyperelasticity, and widespread tissue fragility. (msdmanuals.com)
  • To investigate the optimal dosage of pirfenidone for the treatment of pulmonary fibrosis induced by bleomycin in Wistar rats, and the alteration of expressions of transforming growth factor beta-1 (TGF-beta 1), tissue inhibitor of metalloproteinase-1 (TIMP-1), and matrix metalloproteinase-13 (MMP-13) in lung tissue. (nih.gov)
  • Pirfenidone at a dosage of 50 mg x kg(-1) x d(-1) inhibited protein expression of TGF-beta1 and TIMP-1 in lung tissue in the early phase (0.79 and 0.75 times of control group), but had no effect on expression of MMP-13. (nih.gov)
  • Pirfenidone partially inhibits the enhancement of the expression of TGF-beta 1 and TIMP-1 in lung tissue. (nih.gov)
  • Immunostaining in tissue showed that while both toxicants increased IL-1β protein expression in lung cells, T2P-specific IL-1β increases were greater following CNT exposure. (cdc.gov)
  • We recently discovered that Collagen 1A1 is expressed at high levels in perivascular cells and also in tumor cells themselves. (umich.edu)
  • The expression of cytokines was diminished by the extract in a cannabidiol-dependent manner, but β -sitosterol can act synergistically with CBD in inflammation inhibition. (hindawi.com)
  • Transport and intracellular accumulation of vitamin C in endothelial cells: relevance to collagen synthesis. (ejournals.ca)
  • The authors conclude that exposure of rats to high concentrations of ozone causes an increase in the lung content of mRNA for type-I collagen. (cdc.gov)
  • Livers from Wistar wild-type and multidrug resistance-associated protein (Mrp)2-deficient (TR − ) rats were perfused with CDF in the presence or absence of probenecid. (aspetjournals.org)
  • Histologic findings, new protein production, and quantitative determinations of glycosaminoglycan, DNA, and de novo collagen synthesis were made. (avma.org)
  • Collagen synthesis and glycosaminoglycan and DNA content of explants were all increased. (avma.org)
  • Dr. Mei Chen, Dr. David T. Woodley and the University of Southern California hold patents for recombinant type VII collagen and have filed a Conflict of Interest Declaration with Dr. Randoph W. Hall, Vice Provost for Research Advancement at the University of Southern California. (nih.gov)
  • In vitro, recombinant LCN2 induced COL1A1 expression. (nih.gov)
  • β-Aminopropionitrile caused alterations in cell morphology characterized by large round cells with eccentric nuclei and decreased density of collagen fibers. (avma.org)
  • Because of reduced crosslinking during β- aminopropionitrile treatment, in combination with transiently decreased tensile strength, alterations in collagen content and structure may weaken the healing tendon. (avma.org)
  • Cell attachment to collagen I is mediated by three members of the integrin receptor family named a1b1, a2b1 and a11b1 integrins. (uni-muenchen.de)
  • The main aim of this doctoral thesis was to investigate the basal expression of those integrins in hMSC and to func-tionally analyze the knockdown effect of a single collagen I-binding integrin on hMSC behav-ior in vitro. (uni-muenchen.de)
  • We found that these integrins are differently expressed as integrin a11 had the highest and integrin a2 the lowest expression. (uni-muenchen.de)
  • 80%) of the collagen I-binding integrin mRNA and protein. (uni-muenchen.de)
  • Similarly, when integrin a2 was downregulated, integrin a1 and a11 expression increased. (uni-muenchen.de)
  • Interestingly, knockdown of integrin a11 caused only a slight increase in integrin a1 but not in a2 expression. (uni-muenchen.de)
  • Our integrin knockdown mod-els can be used for further investigations and understanding of the integrins a2b1 and a11b1 importance and signaling in hMSC and hOB since we observed a strong downregulation of integrin a2 expression in osteoporosis. (uni-muenchen.de)
  • The present results suggest that modification and remodeling of BM collagen IV alpha chains occur during odontogenic neoplasms progression. (elsevierpure.com)
  • It has been reported that increased collagen deposition and cross-linking promotes tumour initiation and malignant behaviour 12 . (nature.com)
  • This study aims to assess the effect of tomato juice on the expression of MMP-2 and type-1 collagen on the vaginal wall of the menopausal rat. (ejournals.ca)
  • Results: Quantitative PCR were used to assess the basal expression of collagen I-binding integrins in three hMSC donors. (uni-muenchen.de)
  • Expression of alphal(IV)/alpha2(IV) and alpha5(IV)/alpha6(IV) chains was stronger in desmoplastic than in ordinary ameloblastomas. (elsevierpure.com)
  • In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
  • in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
  • This review highlights this imbalance, emphasising the need to better define the substrate repertoire and expression patterns of FAP to elucidate its role in biological and pathological processes. (nih.gov)
  • A special type of ECM is the basal membrane, which supports epitelial cells. (uncommondescent.com)
  • However, the mechanisms of this adaptation, potentially involving collagen-inducing growth factors (such as transforming growth factor-beta-1 (TGF-beta-1)), as well as enzymes related to collagen processing, are not clear. (fasciaguide.com)
  • Similarly, enzymes/factors involved in collagen processing were induced in tendon, especially LOX (up to 37-fold), which could indicate a loading-induced increase in cross-linking of tendon collagen. (fasciaguide.com)
  • Please note a wild-type cell line is not automatically included with a knockout cell line order, if required please add recommended wild-type cell line at no additional cost using the code WILDTYPE-TMTK1. (abcam.com)
  • In addition, KX significantly decreased the expression levels of TGF‑β1, Smad2, Smad4, Col I and Col III. (spandidos-publications.com)
  • Its expression was induced in isolated chondrocytes by growth factors or interleukin-1. (ox.ac.uk)
  • It was also found that many factor-related OA, such as mechanical loading, ROS, SNP and inflammatory factor, significantly promoted 15-LO-1 expression and activity in chondrocytes. (nature.com)
  • Conclusion and Clinical Relevance -Treatment with β-aminopropionitrile resulted in decreased production of protein and collagen synthesis, which could be expected to suppress tendon healing. (avma.org)
  • En conclusion, nous avons montré un rôle de MK5 dans le remodelage cardiaque pathologique ainsi qu'un rôle de MK5 dans la fonction des fibroblastes cardiaques. (umontreal.ca)
  • Type VII collagen is the major component of anchoring fibrils at the dermal-epidermal junction and in DEB the anchoring fibrils show variable numerical and/or structural abnormalities, changes that lead to blistering beneath the lamina densa (2). (medicaljournals.se)
  • Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene. (wikipedia.org)
  • Collagen helps the skin cells renew and repair themselves. (medicalnewstoday.com)
  • In control human livers, LCN2 expressed exclusively in mononuclear cells, while its expression was markedly induced in AH livers, not only in mononuclear cells but also notably in hepatocytes. (nih.gov)
  • The conference will continue to recognize the central roles of collagens in their macromolecular context in a wide variety of matrices in all organs and their instructive roles that govern cell functions, including stem cells. (grc.org)
  • To do so we will explore whether cell-type specific depletion of Collagen 1A1 from glioma cells will halt tumor progression. (umich.edu)
  • The human brain is made up of an intricate network of different cell types that interact in a variety of ways, with certain diseases and drugs uniquely targeting different brain cell types and their interactions. (nih.gov)
  • Aussi, nous avons étudié in vitro le rôle de MK5 dans la fonction de fibroblaste cardiaque en utilisant des fibroblastes de génotype MK5+/+, MK5+/-, MK5-/- et des fibroblastes avec un knockdown de MK5 par siRNA (MK5-kd). (umontreal.ca)