• Title: Epidermal Growth Factor-Containing Fibulin-Like Extracellular Matrix Protein 1 (EFEMP1) Acts as a Potential Diagnostic Biomarker for Prostate Cancer. (genscript.com)
  • The endoplasmic reticulum (ER) was identified as main hub in controlling extracellular matrix protein secretion. (oeaw.ac.at)
  • Surprisingly, chinmo-/- GSCs rely on a new mechanism of competition in which they secrete the extracellular matrix protein Perlecan to selectively evict non-mutant GSCs and then upregulate Perlecan-binding proteins to remain in the altered niche. (lu.se)
  • Alternatively spliced transcript variants that encode the same protein have been described. (genscript.com)
  • All such dystrophies are genetically recessive and result from mutations in a variety of different genes including those that encode for structural proteins of the basal membrane or the extracellular matrix of skeletal muscle fibers. (msdmanuals.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Expression of recombinant human zona pellucida protein 2 and its binding capacity to spermatozoa. (nih.gov)
  • Expression arrays in menin-null MEFs revealed altered expression of several extracellular matrix proteins that are critical in organogenesis. (johnshopkins.edu)
  • Specifically, transcripts for fibulin 2 (Fbln2), periostin (Postn), and versican [chondroitin sulfate proteoglycan (Cspg2)], genes critical for the developing heart and known to be induced by transforming growth factor-β (TGF-β), were decreased in their expression in menin-null MEFs. (johnshopkins.edu)
  • Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. (nih.gov)
  • Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycle‑associated protein 3. (nih.gov)
  • Here we developed PUREE, which uses a weakly supervised learning approach to infer tumor purity from a tumor gene expression profile. (nature.com)
  • PUREE was trained on gene expression data and genomic consensus purity estimates from 7864 solid tumor samples. (nature.com)
  • Overall, PUREE is a highly accurate and versatile method for estimating tumor purity and interrogating tumor heterogeneity from bulk tumor gene expression data, which can complement genomics-based approaches or be used in settings where genomic data is unavailable. (nature.com)
  • Existing methods that estimate tumor purity from a tumor gene expression profile adopt different analytical strategies (Supplementary Note 1 , 2 ). (nature.com)
  • Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
  • Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. (thermofisher.com)
  • Here, we show that in primary human femoral head osteoarthritic and normal bovine chondrocytes, TWHF partially or completely inhibited mRNA and protein expression of tumor necrosis factor-α, interleukin (IL)-1, and IL-17-inducible MMP-3 and MMP-13. (aspetjournals.org)
  • This agent also inhibited cytokine-stimulated MMP-3 protein expression in human synovial fibroblasts. (aspetjournals.org)
  • Histologic staining and immunohistochemical analyses were used to evaluate joint pathology as well as the expression of key extracellular matrix and regulatory proteins. (bepress.com)
  • The expression levels of dentin sialo-phosphoprotein (DSPP), dentin matrix protein-1 (DMP1), enamelysin/matrix metalloproteinase 20 (MMP20) and phosphate-regulating gene with homologies to endopeptidases on X chromosome (PHEX) were analysed using RT-PCR. (scielo.br)
  • In the largest study ever performed, the authors generated a transcriptome (the complete gene expression network) from 11 different bivalves and gastropods. (thefishsite.com)
  • Both PWN loading and hypoxia enhanced tracheal elasticity and thickened the apical extracellular matrix (aECM) of the tracheal tubes while a notable upregulated expression of a resilin-like mucin protein Muc91C was observed at the aECM layer of PWN-loaded and hypoxic tracheal tubes. (elifesciences.org)
  • Unilateral ischemic injury differentially altered gene expression in both kidneys, compared with control kidneys. (avma.org)
  • Effects of delay of feed post-hatch on the expression of immune related genes and their correlation with components of the gut microbiota. (usda.gov)
  • Background Laterality in the vertebrate embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid across the embryonic node. (bmj.com)
  • Expression varies depending on the nature of the gene. (origene.com)
  • Our purpose was to examine expression patterns of genes related to bone mineralization and inflammation in flexor forelimb muscles from young adult and aged (16 months) rats performing a repetitive reaching and grasping task. (cdc.gov)
  • Interestingly, FLU-exposed biofilms showed no significant changes in gene expression over the course of the experiment. (who.int)
  • In AMB-exposed biofilms, 2.7% of the genes showed altered expression, while in CAS-exposed biofilms, 13.0% of the genes had their expression modified. (who.int)
  • Characterization of dynamic changes in Matrix Gla Protein (MGP) gene expression as function of genetic risk alleles, osteoarthritis relevant stimuli, and the vitamin K inhibitor warfarin. (cdc.gov)
  • [ 8 , 9 ] Therefore, the pathogenesis appears to involve the concomitant increase in the expression of genes for TGF-beta and extracellular matrix proteins in fibroblasts in the affected tissues. (medscape.com)
  • Evaluation of phenotypic markers and expression of matrisome genes and proteins were evaluated by RNA-sequencing, mass spectrometry and immunohistochemistry. (lu.se)
  • COPD-derived AECs proliferated as healthy AECs with few differences in gene and protein expression while retaining increased expression of disease marker HLA-A. The AEC2 expressed basement membrane components and a complex set of interstitial ECM proteins. (lu.se)
  • These approaches promise to enable researchers to assess, on a large scale, both expression level and functional state of the proteins that carry out most functions in a cell. (lu.se)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Geneticists Emma Baple and Andrew Crosby previously discovered mutations in more than 15 genes that cause hereditary spastic paraplegia (HSP)-a group of rare inherited disorders characterized by leg muscle weakness and stiffness. (the-scientist.com)
  • Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. (nih.gov)
  • Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. (genscript.com)
  • Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and idiopathic osteoporosis. (thermofisher.com)
  • Here, we report null mutations in a member of the extracellular matrix protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. (nih.gov)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)
  • 5 , 6 In concordance with the role of nodal cilia in L-R asymmetry, mutations in the motor proteins Kif3A and Kif3B, and the transcription factor Foxj1 in the mouse have demonstrated that ciliary motility is important for L-R asymmetry. (bmj.com)
  • X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
  • The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. (antibodies-online.com)
  • Mori et al suggested that an autocrine stimulatory loop involving major basic protein, a product of eosinophil degranulation, IL-6, which enhances collagen production and is induced my major basic protein, and TGF-beta could account for the progressive fibrosis seen in several eosinophil prominent disorders. (medscape.com)
  • The following EFEMP1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
  • We have recently mapped a gene for the autosomal recessive form of WMS to chromosome 19p13.3-p13.2, in a 12.4-cM interval. (nih.gov)
  • A pseudogene for this gene has been located on chromosome 17. (origene.com)
  • Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. (origene.com)
  • Moreover, electron microscopy and immunological studies of the skin fibroblasts from the patients confirmed impairment of the extracellular matrix. (nih.gov)
  • In general, the pathophysiology underlying eosinophilic fasciitis is postulated to involve an inflammatory response resulting in an activated inflammatory cell infiltrate of affected tissues and subsequent dysregulation of extracellular matrix production by lesional fibroblasts. (medscape.com)
  • Results for the IKs, CNIKs, and control kidneys were compared to identify potential differentially expressed genes and overrepresented proinflammatory and profibrotic pathways. (avma.org)
  • [10] [11] A cell that switches to the biofilm mode of growth undergoes a phenotypic shift in behavior in which large suites of genes are differentially regulated . (wikipedia.org)
  • Cell proteins were analysed with 2-dimensional electrophoresis and differentially expressed proteins were identified by matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry. (who.int)
  • Our preliminary study using 2D isolates were recovered from liq- new cases throughout the world cu- gel electrophoresis in drug sensitive/ uid nitrogen, and sub-cultured in taneous leishmaniasis (CL) remains resistant strains of L. tropica showed RPMI1640 medium (Gibco/BRL) a serious public health problem in that some proteins were differentially supplemented with 10% fetal bovine numerous countries [1,2]. (who.int)
  • Therefore, in the lab we working with molecular biological approaches such as making mutants and fusion proteins but also purely biochemical/biophysical projects, purifying proteins for reconstitution into liposomes, where the ion translocation activities can be measured by Na+ NMR using a shift reagent or by a pH sensitive, membrane-impermeable dye denoted Glu3. (lu.se)
  • Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. (cdc.gov)
  • Transcriptome analysis with RNAseq, followed by gene ontology and cluster analyses, were performed on banked tissue samples of the right kidneys (control kidneys) from cats in the control group and of both kidneys from cats in the RI group, in which unilateral (right) RI had been induced 6 months before the cats were euthanized and the ischemic kidneys (IKs) and contralateral nonischemic kidneys (CNIKs) were harvested. (avma.org)
  • A significant upregulation of Osteoactivin, a gene related to bone mineralization, was found in aged rats (both control and task), while alpha-2-HS-glycoprotein was significantly down-regulated in young adult 3 week HRLF task rats only. (cdc.gov)
  • In particular, exposure to CAS resulted in the upregulation of hypha-specific genes known to play a role in biofilm formation, such as ALS3 and HWP1. (who.int)
  • The encoded protein is localized to the mitochondrial matrix. (origene.com)
  • The classical Complex I enzyme is composed of seven membrane-spanning protein subunits and seven protein subunits protruding into the cytoplasm (in bacteria) or into the mitochondrial matrix (in eukaryotes). (lu.se)
  • Although matrix proteins from different viruses appear to perform similar functions and can have similar structural folds, their primary sequences can be very different. (wikipedia.org)
  • These sequences represent the protein coding region of the EFEMP1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
  • Slime was occasionally produced by S. caprae strains but all of them carried nucleotide sequences hybridizing at low stringency with the following genes: atlE encoding a S. epidermidis autolysin binding vitronectin and responsible for the primary adhesion to polystyrene, ica operon involved in the biosynthesis of a S. epidermidis extracellular polysaccharide, and the part of clfA encoding the serine-aspartate repeated region of a S. aureus cell-wall fibrinogen-binding protein. (unige.ch)
  • 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)
  • The matching is com- plicated by the fact that there are protein modifications and the sequence databases store the unmodified sequences. (lu.se)
  • Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. (oru.se)
  • Diagnosis is based on clinical presentation, muscle biopsy, and blood tests to evaluate muscle proteins and genetic abnormalities. (msdmanuals.com)
  • Additionally, we describe how neuropathology can negatively influence these pathways, and conclude by discussing opportunities to optimize the intramuscular administration route to maximize gene delivery and thus therapeutic potential. (frontiersin.org)
  • To use RNA sequencing (RNAseq) to characterize renal transcriptional activities of genes associated with proinflammatory and profibrotic pathways in ischemia-induced chronic kidney disease (CKD) in cats. (avma.org)
  • The success of proteomics experiments, such as studies of protein function and cell signaling pathways, ultimately de- pends on how well the protein content in samples is identified and annotated. (lu.se)
  • An odontogenic medium modified by the addition of recombinant human bone morphogenetic protein 2 was used in the experimental groups to induce differentiation. (scielo.br)
  • Bone morphogenetic proteins (BMP), known as active components of odontogenic differentiation and tooth development, have been used as a growth factor in an appropriate medium. (scielo.br)
  • Nakashima M. Bone morphogenetic proteins in dentin regeneration for potential use in endodontic therapy. (scielo.br)
  • Bone mineralization and inflammation genes increase in muscles as a consequence of age and performance of a high repetition task. (cdc.gov)
  • These results show that a high repetition-low force reaching and grasping task induces genes related to both inflammation and bone mineralization in muscle tissues, suggesting that these molecules play a role in either inflammation or injury healing. (cdc.gov)
  • Three non-collagenous proteins, osteonectin, transforming growth factor β-1 (TGF-β1) and bone morphogenetic proteins (BMPs), have drawn much attention in the literature lately. (bvsalud.org)
  • Osteonectin has been demonstrated immunocytochemically in active, bone-matrix-producing cells (osteoblasts and young osteocytes) 5 . (bvsalud.org)
  • Bone morphogenetic proteins (BMPs) form a unique group of proteins within the transforming growth factor beta (TGF-β) superfamily. (bvsalud.org)
  • Mechanistic studies revealed no impact on the activation of extracellular signal-regulated kinase, p38, and c-Jun N-terminal kinase mitogen-activated protein kinases. (aspetjournals.org)
  • Image analysis of the matched maps identified 7 proteins that were either over- or down-expressed: activated protein kinase c receptor (LACK), alpha tubulin (×2), prostaglandin f2-alpha synthase, protein disulfide isomerase, vesicular transport protein and a hypothetical protein. (who.int)
  • Homozygous loss of band 9p21, the site for the tumor suppressor gene P16, is a known early genetic event in the development of papillary carcinoma and urothelial carcinoma in situ (CIS). (medscape.com)
  • Lo and behold," says Baple, the TMEM63C protein was located "exactly where we'd expect to find it if it was involved in those lipid metabolism processes": in the endoplasmic reticulum (ER), the cellular hub for protein packaging, as well as at sockets where the ER joins with mitochondria to exchange lipids. (the-scientist.com)
  • The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. (nih.gov)
  • In their absence, the bulk of the matrix proteins are mislocalized to the cytosol 5 , even though these cells still contain peroxisomal membrane structures to which peroxisomal membrane proteins (PMPs) are sorted 6 . (rug.nl)
  • Peroxisomal membrane proteins insert into the endoplasmic reticulum. (rug.nl)
  • Import of peroxisomal membrane proteins: the interplay of Pex3p- and Pex19p-mediated interactions. (rug.nl)
  • The NADH binding site, FMN and eight FeS clusters are located in the promontory part, whereas the seven membrane-spanning proteins are all encoded by mitochondrial DNA in eukaryotes, in fact the Complex I encoding genes make up half of the mtDNA in mammals. (lu.se)
  • The discovery of gene variants in cases of hereditary spastic dysplasia could provide a diagnosis to affected families where no genetic cause could be found before. (the-scientist.com)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
  • Originally pioneered in the fruit fly Drosophila and the nematode C. elegans , genetic screens involve inactivation of many genes one by one. (oeaw.ac.at)
  • [ 4 ] The genetic defect appears to be a region of the gene encoding the KRT14 nonhelical head (E1/V1) domain located between the microsatellite markers D17S798 and D17S957, which are separated by approximately 26.97 cM. (medscape.com)
  • Strong linkage disequilibrium among genetic loci can result from several evolutionary and ecologic forces in addition to small population size (drift), such as lack of recombination machinery or limited opportunity for gene exchange ( 13 ). (cdc.gov)
  • Genetic susceptibility to periapical disease: conditional contribution of MMP2 and MMP3 genes to the development of periapical lesions and healing response. (cdc.gov)
  • Blood tests to evaluate muscle proteins, ultrasonography and magnetic resonance imaging of muscle, and genetic testing when available, are typically done to arrive at an accurate diagnosis. (msdmanuals.com)
  • Localization and functional importance of a conserved zona pellucida 2 protein domain in the human and bovine ovary using monoclonal anti-ZP2 peptide antibodies. (nih.gov)
  • The viruses from the two cases are closely related genetically, resistant to amantadine and rimantadine, and contain a unique combination of gene segments that previously has not been reported among swine or human influenza viruses in the United States or elsewhere. (cdc.gov)
  • Now, the Knoblich lab at IMBA has developed a groundbreaking technique allowing hundreds of genes to be analyzed in parallel in human tissue. (oeaw.ac.at)
  • Objective Mitogen-inducible gene 6 (MIG-6) regulates epidermal growth factor receptor (EGFR) signaling in synovial joint tissues. (bepress.com)
  • Genes associated with the extracellular matrix (eg, TIMP-1 , fibulin-1, secreted phosphoprotein-1, matrix Gla protein, and connective tissue growth factor) were upregulated in tissue samples from both the IKs and CNIKs, compared with tissues from the control kidneys. (avma.org)
  • This family also includes matrix proteins from several eukaryotic endogenous retroviruses, which arise when one or more copies of the retroviral genome becomes integrated into the host genome. (wikipedia.org)
  • This entry also identifies matrix proteins from several eukaryotic endogenous retroviruses. (wikipedia.org)
  • Here we show that changes in the composition of the extracellular matrix during this week can affect cardiomyocyte growth and differentiation in mice. (nature.com)
  • Female mice lacking this gene do not form a stable zona matrix and are sterile. (nih.gov)
  • To examine the role of OPN in vascular calcification, OPN mutant mice were crossed with matrix Gla protein (MGP) mutant mice. (silverchair.com)
  • Whole-body knockout of the Mig6 gene in mice has been shown to induce osteoarthritis and joint degeneration. (bepress.com)
  • During viral maturation, the Gag polyprotein is cleaved by the retroviral protease into several corresponding structural proteins, yielding the matrix (MA), capsid (CA), and nucleocapsid (NC) proteins, and some smaller peptides. (wikipedia.org)
  • The self-produced matrix of extracellular polymeric substances , which is also referred to as slime, is a polymeric conglomeration generally composed of extracellular biopolymers in various structural forms. (wikipedia.org)
  • Recently, the University of Exeter duo identified new variants in yet another gene called TMEM63C in seven patients from three affected families. (the-scientist.com)
  • In the meantime, identifying these gene variants "brings immediate diagnostic benefits" to affected families, Crosby tells The Scientist . (the-scientist.com)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (thermofisher.com)
  • Three transcript variants encoding the same protein have been identified for this gene. (origene.com)
  • Carotid intima-media thickness is associated with allelic variants of stromelysin-1, interleukin-6, and hepatic lipase genes: the Northern Manhattan Prospective Cohort Study. (cdc.gov)
  • The major pathologic manifestations of rheumatoid arthritis (RA) and osteoarthritis (OA) are joint inflammation and articular cartilage resorption by proinflammatory cytokine-stimulated matrix metalloproteinases (MMPs) and aggrecanases. (aspetjournals.org)
  • In the Hemicentin-1 gene, three sequence alterations (Asp5088Val, IVS99-13C/T, and His5245Gln) were detected, and the originally reported Gln5346Arg was not detected. (nih.gov)
  • The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)
  • The proposed method is novel because it works independently of protein sequence databases and without any prior knowledge about modifica- tions. (lu.se)
  • PTMs from this list in conjunction with a protein sequence and a few precursor masses. (lu.se)
  • A mouse acrosomal cortical matrix protein, MC41, has ZP2-binding activity and forms a complex with a 75-kDa serine protease. (nih.gov)
  • To determine whether polymorphisms in the Complement Factor H (CFH) gene and the Hemicentin-1 gene at the ARMD1 locus are associated with dry age-related macular degeneration (AMD) in Japanese patients. (nih.gov)
  • Henry, M. D. & Campbell, K. P. Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton. (nature.com)
  • Direct insertion of PMPs into peroxisomes depends on Pex3 and Pex19 8 , Pex19 being the chaperone/receptor for PMPs and Pex3 the peroxisomal docking protein for the Pex19-cargo complex. (rug.nl)
  • The need to keep track of protein modifications is readily recognized by the proteomics community, and few repositories of known peptide modifications have been created. (lu.se)
  • ABSTRACT In order to define the protein expressional changes related to the process of meglumine antimoniate resistance in anthroponotic cutaneous leishmaniasis (CL), we performed a comparative proteomics analysis on sensitive and resistant strains of Leishmania tropica isolated from Iranian CL patients. (who.int)
  • The study shows the usefulness of proteomics in identifying proteins that may express differences between sensitive and resistant L. tropica isolates. (who.int)
  • CusabioAlternative Name(s): Nucleocapsid protein (Protein N)Gene Names: NResearch Areas: Signal. (joplink.net)
  • These observations support a mutation in a basal keratin gene as causing both blistering and pigmentary disorders. (medscape.com)
  • Retroviral matrix proteins are components of envelope-associated capsids of retroviruses. (wikipedia.org)
  • [2] [3] The cells within the biofilm produce the EPS components, which are typically a polymeric conglomeration of extracellular polysaccharides , proteins , lipids and DNA . (wikipedia.org)
  • Matrix proteinGene Names: MResearch Areas: Signal TransductionOrganism: Vesicular. (joplink.net)
  • CusabioAlternative Name(s): /Gene Names: MResearch Areas: Tags & Cell MarkersOrganism: Vesicular stomatitis. (joplink.net)
  • Matrix proteinGene Names: MResearch Areas: OthersOrganism: Vesicular stomatitis. (joplink.net)
  • 3409. V.C. Cordes, H.R. Rackwitz, S. Reidenbach, 'Mediators of nuclear protein import target karyophilic proteins to pore complexes of cytoplasmic annulate lamellae,' Exp. (nanomedicine.com)
  • We describe a statistical measure, Mass Distance Fingerprint, for automatic de novo detection of predominant peptide mass distances, i.e., putative protein mod- ifications. (lu.se)
  • Both organelles became misshapen in cells engineered to lack TMEM63C, which also suggests that the protein helps shape organelle morphology. (the-scientist.com)
  • Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. (genscript.com)
  • this finding indicates that the gene for NFJ syndrome is not located in the epidermal differentiation complex, the type II keratin cluster, or the desmosomal cadherin cluster, respectively. (medscape.com)
  • This precompiled information serves as a substrate and matrix to embed your contributions, but it is by no means the final word - Homo sapiens can do much better! (wikigenes.org)
  • More than 80 mutated genes have been identified in HSPs, making this one of the most genetically heterogenous inherited diseases. (the-scientist.com)
  • With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
  • We examined the capacity of AEC to produce extracellular matrix (ECM) and thereby directly contribute towards remodelling in chronic lung diseases. (lu.se)