• The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. (wikipedia.org)
  • The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. (wikipedia.org)
  • PSS may be caused by disease-causing variants in multiple genes encoding proteins with crucial functions for cell-cell adhesion: structural proteins forming cell-cell adhesion points (desmosomes, corneodesmosomes) and inhibitors of epidermal proteases that control skin shedding. (rarediseases.org)
  • There were 3954 correlations and a total of 15 correlations for differentially expressed proteins (DEPs) and differentially expressed genes (DEGs) from proteomics and transcriptomics. (hindawi.com)
  • 185 genes in signature reported in the publication with PubMedID mRNA_KAT5_22196727 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. (maayanlab.cloud)
  • Parotid and submaxillary glands were isolated from rats at 4, 8, and 24 h post-administration, and gene expression for the principal secretory proteins, amylase 1 (AMY1) and cystatin S (CysS), dominant PDE subfamilies 3A and 4D, and a water channel, aquaporin 5 (AQP5) were quantified by RT-PCR. (go.jp)
  • Cystatin A (Cys A), a cysteine protease inhibitor, is a precursor of proteins involves in keratinocyte keratinization, and is expressed during the late phase of differentiation of these cells. (bvsalud.org)
  • Cystatin-F is a protein that in humans is encoded by the CST7 gene. (wikipedia.org)
  • The MEROPS online database for peptidases and their inhibitors: I25.007 Human CST7 genome location and CST7 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Exudative age related macular degeneration (ARMD) is linked with the CST3 gene, a study in Germany has found. (bmj.com)
  • Zurdel et al chose as a potential candidate the cystatin C gene- CST3 -coding for a protease inhibitor common in tissues and body fluids which strongly inhibits cathepsins, including cathepsin S, and results in debris accumulating around retinal pigment epithelial cells. (bmj.com)
  • Effects of CST3 Gene G73A Polymorphism on Cystatin C in a Prospective Multiethnic Cohort Study. (cdc.gov)
  • 2004) narrowed the AD candidate region on chromosome 20 to an 11.8-cM region between markers D20S174 and D20S471, which includes the CST3 gene. (findzebra.com)
  • In addition, they observed association for markers located near the CST3 gene, with P values between 0.002 and 0.08 for 2-locus haplotypes. (findzebra.com)
  • 2000) reported associations between polymorphisms in the CST3 gene and late-onset AD, Monastero et al. (findzebra.com)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • PSS localized to the extremities is termed acral PSS and usually caused by mutations in the TGM5 gene encoding transglutaminase 5 (although mutations in the CSTA gene, encoding cystatin A, have also been shown to be causative). (aad.org)
  • PSS type1 (PSS1, OMIM 270300) is a rare autosomal recessive disorder caused by nonsense mutations or complete deletion of the CDSN gene encoding for CDSN. (aad.org)
  • Mutations in the RAS , PIK3CA , and PTEN genes in the PI3K pathway are the main genetic driving force of this pathway in human cancers, including thyroid cancers, particularly FTC and ATC [ 8 , 9 ]. (oncotarget.com)
  • 21 allelic mutations have been discovered in the APP gene. (findzebra.com)
  • Expression of p63 is almost exclusively restricted to epithelial cells, mutations in this gene are infrequent, and its expression is increased in a variety of solid tumors, particularly those of the head and neck area 12,13 . (bvsalud.org)
  • Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS. (bvsalud.org)
  • This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. (wikipedia.org)
  • Of the 11 genes mapped to this 300kb interval, cystatin E/M, a cysteine protease inhibitor, seemed to be a potential candidate due to reports of its involvement in breast cancer. (uclahealth.org)
  • In the October 23 Neuron, Gan and colleagues now report that APP mice lacking cystatin C (CysC)-an inhibitor of cysteine proteases including CatB-have lower soluble Aβ levels and reduced Aβ-associated deficits in cognition, behavior, and synaptic plasticity compared to APP/CysC+/+ mice. (alzforum.org)
  • To analyze the contribution of cysteine proteases to metastasis we have over-expressed in B16 melanoma cells the natural cysteine protease inhibitor, cystatin C. We measured in vitro invasion of cystatin over-expression clones with Boyden chamber type assays. (biomedcentral.com)
  • Cystatin C is a type II cysteine protease inhibitor that is normally secreted from cells [ 10 ]. (biomedcentral.com)
  • Weighted gene co-expression network analysis (WGCNA) was used to identify key genes for mRNA vaccines. (frontiersin.org)
  • [ 16 ] In one study, arecoline was found to elevate the mRNA and protein expression of cystatin C, a nonglycosylated basic protein consistently up-regulated in a variety of fibrotic diseases, in a dose-dependent manner in persons with oral submucous fibrosis. (medscape.com)
  • Dr. Bennett's studies examine the relationship among many types of data such as genetic variants, gene expression levels and metabolite levels and how these interact to increase susceptibility to cardiovascular disease. (usda.gov)
  • We leveraged the genetic variants in the CYP1A2 and AHR genes via the two-sample Mendelian randomization (MR) framework to estimate the association of genetically predicted plasma caffeine and caffeine intake on kidney traits. (lu.se)
  • Association of matrix metalloproteinase-2 gene variants with diabetic nephropathy risk. (cdc.gov)
  • Role of ENPP1 Gene Variants in the Susceptibility to Diabetic Nephropathy in Patients with type 2 Diabetes Mellitus. (cdc.gov)
  • To prevent damage from this pest, the researchers stacked combinations of Bt gene ( cry3A ), synthetic hybrid ( SN-19 ), and plant proteinase inhibitor Oryza cystatin II ( OCII ) and further transformed them into two potato cultivars through Agrobacterium- mediated transformation. (isaaa.org)
  • 1989). "Cystatin superfamily. (wikipedia.org)
  • It is a major plasma protein and a member of the cystatin superfamily of protease inhibitors (2, 3). (rndsystems.com)
  • PCR was conducted to find the expression of proteases and protease inhibitors genes in hepatitis patients and healthy individuals. (elis.sk)
  • In light of prior human polymorphism data and recent mouse data highlighting cystatin C's ability to interfere with amyloid aggregation, the new findings suggest a more complex character for cystatin C and make it challenging to say whether it plays a "good" or "bad" role in AD pathogenesis. (alzforum.org)
  • Apolipoprotein A5 gene polymorphism (rs662799) and cardiovascular disease in end-stage kidney disease patients. (cdc.gov)
  • The Association of Methylenetetrahydrofolate Reductase (MTHFR) A1298C Gene Polymorphism with Susceptibility to Diabetic Nephropathy: A Meta-Analysis. (cdc.gov)
  • Srivatsan's studies further revealed that cathepsin L, a protein overexpressed in several tumors and linked to invasion and metastasis as the physiological target of cystatin E/M. (uclahealth.org)
  • To help establish mechanism of cystatin C action in metastasis we have fused cystatin C to the N-terminus of green fluorescent protein. (biomedcentral.com)
  • In this study we show over-expression of cystatin C in melanoma cells is associated with reduced metastasis and increased apoptosis in lung tissues. (biomedcentral.com)
  • Thus, his results clearly demonstrated that cystain E/M is a cervical cancer suppressor gene and controls cell growth through the inhibition of cathepsin L. His laboratory used lentiviral tetracycline inducible system for the exogenous expression of cystatin E/M and have shown growth suppression in xenograft tumor mice model pointing to suppressor function of cystatin E/M protein. (uclahealth.org)
  • Controlled individuals showed normal expression of cystatin C and leptin, low expression of cathepsin B while high expression of other studied genes including cathepsin D and G, TPP1 and serpin B1 could be seen. (elis.sk)
  • Hepatitis B patients revealed considerable variations in the cathepsin and cystatin C gene expression. (elis.sk)
  • Therefore, low cystatin C (high cathepsin B) and/or high cystatin C (low cathepsin B) levels can be regarded as a potential marker for hepatitis B. Hepatitis C infected patients showed high gene expression of cystatin C and leptin, so they could be useful markers for the diagnostics and prediction of the severity of HCV infections. (elis.sk)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • In particular he is focused on how diet affects gene expression. (usda.gov)
  • Ectopic expression of the gene in the cell lines resulted in cell growth inhibition and apoptosis in vitro and inhibition of tumor growth in vivo in nude mice. (uclahealth.org)
  • The main tool used in transcriptomics is total RNA sequencing, which is a powerful tool for analyzing gene expression changes in response to various environmental stresses [ 27 ]. (hindawi.com)
  • The current study was designed to find the gene expression of proteases and proteases inhibitors in different hepatitis patients and to determine HCV genotypes mainly focusing on untypeable genotypes of HCV in Abbottabad, Pakistan. (elis.sk)
  • Hepatitis A patients showed high expression of leptin while other genes showed low expression. (elis.sk)
  • Production of the fusion polypeptide involves the introduction of the hybrid gene into a biological host cell system, for example yeast cells, which permits the expression and accumulation of the fusion polypeptide. (justia.com)
  • Clinical information, follow-up information, and gene expression profiles were obtained from the TCGA and GEO databases. (frontiersin.org)
  • Three immune subtypes were classified based on immune-related gene expression profiles. (frontiersin.org)
  • We assessed the ability of the fungal elicitor arachidonic acid to induce cystatin genes in tomato (Solanum lycopersicum), using a cDNA expression library from arachidonate-treated leaves. (up.ac.za)
  • We hypothesized that aberrant methylation and hence altered expression of certain unknown important genes induced by the genetically activated PI3K pathway signaling is a major epigenetic mechanism in human tumorigenesis. (oncotarget.com)
  • Demethylating the hypermethylated REC8 gene restored its expression in thyroid cancer cells in which the PI3K pathway was genetically over-activated and induced expression of REC8 protein inhibited the proliferation and colony formation of these cells. (oncotarget.com)
  • Researchers saw immune-related gene expression changes in astronauts on the International Space Station, along with shifts to baseline in the weeks after their return to Earth. (movitelecom.com)
  • These histological findings imply increased gene expression. (go.jp)
  • The purpose of this study was to examine the effect of theophylline on the expression of representative genes in the salivary glands which are regulated by cyclic AMP. (go.jp)
  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. (cancerindex.org)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • The expression of cystatin C-GFP fusion was observed in B16F10 melanoma cells following transient transfection of plasmid construct DNA. (biomedcentral.com)
  • Confocal microscopy was used in an attempt to localize cystatin C-GFP protein expression in cells. (biomedcentral.com)
  • A cytoplasmic expression was noted for GFP alone and cystatin C-GFP fusion when transiently expressed in B16 melanoma cells (Figure 1 ). (biomedcentral.com)
  • This pattern of expression was not anticipated since cystatin C is primarily a secreted protein that should have produced a vesicular localization of fluorescence within the cell. (biomedcentral.com)
  • Figure 2 shows expression of the cystatin C-GFP fusion protein. (biomedcentral.com)
  • Studies suggest that expression of cystatin A is inversely associated with malignant progression of cancer 9 . (bvsalud.org)
  • In addition, important genes related to osmoregulation, such as ion transport and carbonic anhydrase, were also detected in the correlation analysis for same trend DEPs_DEGs. (hindawi.com)
  • 1988) Gene 67: 21-30), glutathione-S-transferase (Johnson (1989) Nature 338: 585-587), ubiquitin (Miller et al. (justia.com)
  • The Abs in the kit have high sensitivity and excellent specificity for detection of Cystatin 6 (CST6). (biocheminfo.org)
  • The researchers have previously used microsatellite analysis of cervical cancer cell lines and primary tumors to localize a tumor suppressor gene to a 300kb interval of chromosome 11q13. (uclahealth.org)
  • Chromosome 11q13 genomic mapping studies have also identified PACS-1 (phosphofurin acidic cluster sorter protein-1) gene as an oncogene. (uclahealth.org)
  • Researchers have now identified a tumor suppressor gene, cystatin E/M, which may be involved in the control of cervical cancer development. (uclahealth.org)
  • Using the inducible and HPV 16 E6 or E7 or E6 and E7 gene transformed human epidermal keratinocyte system the laboratory has shown non-cell autonomous growth inhibition of the tumor cell lines pointing to the utility of developing this suppressor protein for clinical studies. (uclahealth.org)
  • Cystatin E/M Suppresses Tumor Cell Growth through Cytoplasmic Retention of NF-KappaB. (uclahealth.org)
  • These findings are consistent with REC8 being a novel major bona fide tumor suppressor gene and a robust epigenetic target of the PI3K pathway. (oncotarget.com)
  • There is evidence for a genetic cause but no consensus about a candidate gene. (bmj.com)
  • Researchers have now obtained evidence confirming cystatin E/M as the cervical cancer suppressor gene. (uclahealth.org)
  • The signal on 20p was near the location of the gene encoding cystatin C. Two-locus analysis provided evidence of strong epistasis between 20p and the APP region, limited to the oldest age group and to those lacking E4 alleles at the APOE locus. (findzebra.com)
  • Genetically predicted plasma caffeine levels were associated with a decrease in estimated glomerular filtration rate (eGFR) measured using either creatinine or cystatin C. In contrast, genetically predicted caffeine intake was associated with an increase in eGFR and a low risk of chronic kidney disease. (lu.se)
  • Now continuing these studies, Dr. Bennett is working to identify the interaction of groups of genes, also called biologic networks regulating TMAO levels and affecting cardiovascular disease. (usda.gov)
  • At first glance, this trend would seem to back recent work indicating a seemingly beneficial role for cystatin C in AD mice-as an agent that interferes with amyloid aggregation (see ARF related news story ). (alzforum.org)
  • from the mutation of a single gene. (scirp.org)
  • PHENOTYPE: Homozygous mutation of this gene results in no abnormal phenotype. (utsouthwestern.edu)
  • There is a rare hereditary form of beta-2-microglobulin amyloidosis due to a mutation to the relevant gene. (msdmanuals.com)
  • 2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)
  • This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
  • Inherited risk for stroke is likely multigenic, although specific single-gene disorders with stroke as a component of the phenotype demonstrate the potency of genetics in determining stroke risk. (medscape.com)
  • Gene 2023 9 147787. (cdc.gov)
  • The journal of gene medicine 2023 6 e3553. (cdc.gov)
  • Hans Pottel et al, Cystatin C-Based Equation to Estimate GFR without the Inclusion of Race and Sex, New England Journal of Medicine (2023). (medicalxpress.com)
  • Our results suggest that theophylline induces cyclic AMP signals through PDE inhibition, leading to enhanced gene transcription and subsequent histological changes. (go.jp)
  • Transcriptomics focuses on gene transcription and regulation of transcription in cells [ 25 , 26 ]. (hindawi.com)
  • The American College of Medical Genetics and Genomics has added three new cardiovascular genes to the latest release of its secondary finding list. (movitelecom.com)
  • These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
  • Meanwhile, data on human polymorphisms thus far seem to point to a protective role for cystatin C in AD. (alzforum.org)
  • Association of Polymorphisms in Antioxidant Enzyme-Encoding Genes with Diabetic Nephropathy in a Group of Saudi Arabian Patients with Type II Diabetes Mellitus. (cdc.gov)
  • Chronic Kidney Disease: Interaction of Adiponectin Gene Polymorphisms and Diabetes. (cdc.gov)
  • A study in Cell Genomics provides insight into how glucocorticoids can lead to cancer immunotherapy failure via cystatin C production. (movitelecom.com)
  • These techniques are based upon the preparation of hybrid genes, i. e. genes comprising genetic material encoding the polypeptide of interest linked to genetic material additional to the gene of interest. (justia.com)
  • This grant from the National Heart, Lung and Blood Institute enabled him to further study how genes and diet affect atherosclerosis. (usda.gov)
  • Results of the study indicate that stacking of genes in potato plants can potentially control the infestation of Colorado potato beetle. (isaaa.org)
  • Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study. (cdc.gov)
  • The following strains were used in this study: Impurity F of Calcipotriol Bristol N2 wild type (WT), the cystatin gene null mutant RB1207 [32]. (physiciansontherise.org)
  • Results showed that the transgenic plants with cry3A + SN-19 and OCII + SN-19 gene combinations had high resistance to Colorado potato beetle, showing 100% mortality of all insects in larval and adult stages. (isaaa.org)
  • Results The most overexpressed gene in children sensitised to dog dander compared to healthy controls was CST1 , coding for Cystatin 1. (ersjournals.com)
  • Hans Pottel, Ph.D., from KU Leuven Campus Kulak Kortrijk in Belgium, and colleagues used data from patients in Sweden to estimate the rescaling factor for cystatin C level in adults. (medicalxpress.com)
  • Rescaled serum creatinine in the EKFC eGFRcr equation was replaced with rescaled cystatin C, and the resulting EKFC eGFRcys equation was validated in cohorts of White and Black patients in Europe, the United States, and Africa. (medicalxpress.com)
  • The rescaling factor for cystatin C was estimated at 0.83 for men and women younger than 50 years of age and 0.83 + 0.005 x (age − 50) for those 50 years of age or older on the basis of data from 227,643 patients in Sweden. (medicalxpress.com)
  • To date, only few cystatin genes have been characterized in most plant species. (unifesp.br)
  • In addition we will address important areas of modern epidemiology such as the influence of early life factors on adult health and disease, but also the importance of the gene-diet-microbiota interaction for body function and health. (lu.se)
  • Mouse Fetuin A, also known as alpha 2 -Heremans-Schmid glycoprotein, is encoded by the AHSG gene. (rndsystems.com)
  • No significant cross-reactivity or interference between Cystatin 6 (CST6) and analogues was observed. (biocheminfo.org)