• Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease typically characterized by the slow but progressive onset of shortness of breath or cough. (news-medical.net)
  • Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. (nature.com)
  • Single-cell RNA sequencing identifies diverse roles of epithelial cells in idiopathic pulmonary fibrosis. (nature.com)
  • Idiopathic pulmonary fibrosis: multiple causes and multiple mechanisms? (ersjournals.com)
  • Idiopathic pulmonary fibrosis (IPF) is a devastating condition that carries a prognosis worse than that of many cancers. (ersjournals.com)
  • It is argued here, instead, that abnormalities in multiple pathways involved in wound healing and inflammation lead to the development of idiopathic pulmonary fibrosis, and it is suggested that a new rationale for clinical classification and pathogenesis may be more productive in driving the search for novel therapies in the future. (ersjournals.com)
  • Idiopathic pulmonary fibrosis (IPF) is a devastating, progressive fibrotic lung condition that carries a median survival of 2.8-4.2 yrs, and for which no effective treatments exist 1 , 2 . (ersjournals.com)
  • We previously identified a MUC5B gene promoter-variant that is a risk allele for sporadic and familial Idiopathic Pulmonary Fibrosis/Usual Interstitial Pneumonia (IPF/UIP). (nih.gov)
  • Advance lung diseases include: Interstitial lung diseases (primary idiopathic pulmonary fibrosis), chronic obstructive lung diseases, cystic fibrosis, and bronchiolitis obliterans. (wustl.edu)
  • Patchy fibrosis with greater involvement of the lower lobes and subpleural regions is readily apparent in idiopathic pulmonary fibrosis. (medscape.com)
  • Interstitial lung diseases such as idiopathic pulmonary fibrosis (IPF) are caused by persistent micro-injuries to alveolar epithelial tissues accompanied by aberrant repair processes. (lu.se)
  • Investigation of the role of osteopontin in pulmonary granuloma formation and fibrosis following carbon nanotube exposure. (cdc.gov)
  • Pulmonary exposure to multi-walled carbon nanotube s (MWCNT) is known to induce granuloma formation with associated fibrosis. (cdc.gov)
  • Total absence of dystrophin expression exacerbates ectopic myofiber calcification and fibrosis and alters macrophage infiltration patterns. (nature.com)
  • Single-cell deconvolution of fibroblast heterogeneity in mouse pulmonary fibrosis. (nature.com)
  • Single-cell transcriptomic analysis of human lung provides insights into the pathobiology of pulmonary fibrosis. (nature.com)
  • At present, there is a lack of effective treatment for pulmonary fibrosis (PF), and a number of studies have confirmed that curcumin (CUR) has a good effect on PF. (frontiersin.org)
  • What is pulmonary fibrosis? (pulmonaryfibrosis.org)
  • Pulmonary fibrosis share the pathogenesis process of interstitial lung disease which involve the pulmonary parenchyma . (wikidoc.org)
  • Hara Levy, professor of physiology at the Human and Molecular Genetics Center of the Medical College of Wisconsin, studies cystic fibrosis (CF). Although CF is caused by mutations in the CF transmembrane conductance regulator gene, patients with identical genetic mutations in this gene can suffer variable levels of lung disease severity. (genengnews.com)
  • In this study we show Ogg1-targeting siRNA mitigates bleomycin-induced pulmonary fibrosis in male mice, highlighting OGG1 as a tractable target in lung fibrosis. (lu.se)
  • In addition, TH5487 decreases levels of pro-inflammatory mediators, inflammatory cell infiltration, and lung remodeling in a murine model of bleomycin-induced pulmonary fibrosis conducted in male C57BL6/J mice. (lu.se)
  • We reasoned that gene expression profiling of COPD lungs could reveal previously unidentified disease pathways. (nih.gov)
  • Interestingly, both TGF-beta1 and SERPINE2 have been identified as candidate genes in COPD genetic linkage and association studies. (nih.gov)
  • p38 mitogen-activated protein kinase (MAPK) signaling is known to be increased in chronic obstructive pulmonary disease (COPD) macrophages. (ox.ac.uk)
  • We have studied the effects of the p38 MAPK inhibitor N-cyano-N'-(2-{[8-(2,6-difluorophenyl)-4-(4-fluoro-2-methylphenyl)-7-oxo-7,8-dihydropyrido[2,3-d]-pyrimidin-2-yl]amino}ethyl)guanidine (SB706504) and dexamethasone on COPD macrophage inflammatory gene expression and protein secretion. (ox.ac.uk)
  • SB706504 and dexamethasone had no effect on the transcription of a subset of LPS-regulated genes, including IL-1beta, IL-18, and CCL5, which are all known to be involved in the pathogenesis of COPD. (ox.ac.uk)
  • Weight loss is a clinically important risk factor indicating a poor prognosis in chronic obstructive pulmonary disease (COPD). (karger.com)
  • The combined therapy of Bufei Yishen granules (BY) and electroacupuncture (EA) has shown good effects clinically in treating chronic obstructive pulmonary disease (COPD). (hindawi.com)
  • Pulmonary function was markedly decreased in the COPD rats, and the lung tissue histology of the COPD rats showed severe pathological changes. (hindawi.com)
  • Chronic obstructive pulmonary disease (COPD) is a common, preventable, and treatable disease characterized by persistent respiratory symptoms and airflow limitation [ 1 ]. (hindawi.com)
  • In this manuscript, we report the in vitro mutagenicity of waterpipe smoke condensate (WSC), the alteration in cellular parameters of lung alveolar cells in response to WSC exposure and discuss the implication of cellular responses in the pathophysiology of chronic obstructive pulmonary disease (COPD). (who.int)
  • Clinical characteristics and comorbidities of AO were compared with asthma without airflow obstruction (asthma-only) and chronic obstructive pulmonary disease (COPD) without asthma history (COPD-only). (kb.se)
  • Synonymous mutations in TLR2 and TLR9 genes decrease COPD susceptibility in the Chinese Han population. (cdc.gov)
  • Therefore, infants and children with pulmonary disease may have lower partial pressure of arterial oxygen (PaO 2 ). (medscape.com)
  • Mutations in bone morphogenetic protein receptor type 2 ( BMPR2 ) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented. (ersjournals.com)
  • Familial pulmonary arterial hypertension (FPAH) is caused, in 80% of families, by autosomal dominant mutations in the gene encoding bone morphogenetic protein receptor type 2 ( BMPR2 ). (ersjournals.com)
  • The Vanderbilt pulmonary arterial hypertension (PAH) research registry provided the study base from which the subjects in this study were recruited. (ersjournals.com)
  • Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. (biomedcentral.com)
  • Pulmonary arterial hypertension (PAH) remains a progressive, lethal vasculopathy despite recent therapeutic advances. (biomedcentral.com)
  • and epigenetic contributions to pulmonary arterial hypertension associated with systemic sclerosis. (hopkinsmedicine.org)
  • The largest pulmonary arteries have small yellow atherosclerotic plaques in pulmonary arterial hypertension. (medscape.com)
  • The relationships between the Arterial and venous thrombosis, which clinical presentation and FVII levels and the clinically manifest as stroke, myocardial in- associated molecular genetic defects lack farction or pulmonary embolism are a ma- apparent consistency [ 7,10 ]. (who.int)
  • The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. (biomedcentral.com)
  • At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. (biomedcentral.com)
  • Rare variant analysis of a large international consortium identified two new candidate genes- FBLN2 and PDGFD . (biomedcentral.com)
  • Different statistical methods with varying selection criteria resulted in identification of similar candidate genes. (cdc.gov)
  • Array data are intended to provide candidate genes for hypothesis generation and further experimentation. (cdc.gov)
  • Array studies provide candidate genes to identify common mechanistic pathways in the effector phase, as well as mechanistic pathways unique to individual allergens. (cdc.gov)
  • Interstitial lung disease is a group of disorders that involve pulmonary parenchyma . (wikidoc.org)
  • Genes involved in extracellular matrix synthesis/degradation and apoptosis were among the up-regulated genes, whereas genes that participate in antiinflammatory responses were down-regulated. (nih.gov)
  • Functional analyses indicated that some of the genes induced by dragonfly larvae caused an increase in laminins necessary for cell adhesion in the extracellular matrix. (biomedcentral.com)
  • The basic molecular defect results from mutations in the gene encoding the glycoprotein fibrillin-1 ( FBN1 ), which is the main component of microfibrils and helps anchor cells to the extracellular matrix. (msdmanuals.com)
  • The disease is characterized by pulmonary vascular endothelial dysfunction and proliferative remodeling giving rise to increased pulmonary artery pressures and pulmonary vascular resistance. (biomedcentral.com)
  • In cases of congenital diaphragmatic hernia (CDH) associated with pulmonary hypoplasia, hypertrophy of the contralateral lung has been demonstrated, with associated pulmonary artery hypertension. (medscape.com)
  • However, the known susceptibility variants are incompletely penetrant, many individuals who carry monogenic risk variants never develop PAH, and a subset of patients have deleterious variants in more than one risk gene. (biomedcentral.com)
  • Association of mannose binding lectin with chronic obstructive pulmonary disease susceptibility and its clinical outcomes. (cdc.gov)
  • Publications regarding the associations of toll-like receptor 2 (TLR2) G2258A and T597C polymorphisms with pulmonary tuberculosis (PTB) susceptibility are inconsistent. (cdc.gov)
  • A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (who.int)
  • 2006) it would be good if that future epidemiological studies of relationships between lead exposures and cancer should include evaluation of genetic susceptibility factors, such as the ALAD gene. (who.int)
  • Immunohistochemistry confirmed expression of urokinase plasminogen activator (PLAU), urokinase plasminogen activator receptor (PLAUR), and thrombospondin (THBS1) by alveolar macrophages and airway epithelial cells. (nih.gov)
  • Isoforms of Wilms' tumor suppressor gene (WT1) have distinct effects on mammary epithelial cells. (famri.org)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • Other less common chronic manifestations involve the pulmonary, cardiac, and gastrointestinal systems. (medscape.com)
  • Inhibition of lipopolysaccharide-stimulated chronic obstructive pulmonary disease macrophage inflammatory gene expression by dexamethasone and the p38 mitogen-activated protein kinase inhibitor N-cyano-N'-(2-{[8-(2,6-difluorophenyl)-4-(4-fluoro-2-methylphenyl)-7-oxo-7,8-dihydropyrido[2,3-d] pyrimidin-2-yl]amino}ethyl)guanidine (SB706504). (ox.ac.uk)
  • Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. (cdc.gov)
  • Staphylococcus aureus enterotoxin A- and B-specific IgE in chronic obstructive pulmonary disease. (cdc.gov)
  • Association between single-nucleotide polymorphism of cytokines genes and chronic obstructive pulmonary disease: A systematic review and meta-analysis. (cdc.gov)
  • Mendelian randomization study shows a causal effect of asthma on chronic obstructive pulmonary disease risk. (cdc.gov)
  • C Gene Variant (rs10502001) and Expression in Chronic Obstructive Pulmonary Disease. (cdc.gov)
  • Major depressive disorder plays a vital role in the pathway from gastroesophageal reflux disease to chronic obstructive pulmonary disease: a Mendelian randomization study. (cdc.gov)
  • Application of mendelian randomization to study the causal relationship between smoking and the risk of chronic obstructive pulmonary disease. (cdc.gov)
  • 5 have shown that mortality during the first 2 yrs following diagnosis is primarily linked to severity of pulmonary function impairment and not to histological diagnosis. (ersjournals.com)
  • We included culture-positive, pulmonary TB patients with genotyping results who received standard 4-drug treatment at the time of diagnosis. (cdc.gov)
  • We used a retrospective cohort study design and included culture-confirmed TB cases with complete genotyping results and pulmonary disease treated with a standard 4-drug regimen (i.e., isoniazid, rifampin, ethambutol, and pyrazinamide) at diagnosis ( 19 ). (cdc.gov)
  • Lung metastasis is a therapeutic challenge during osteosarcoma progression (15?30% survival rate with pulmonary metastasis at diagnosis). (conicet.gov.ar)
  • Knowledge of the expression patterns of HE4 in our survey is useful for application in histopathologic diagnosis, and should be taken into consideration in future studies that examine the role of HE4 as a serological tumor biomarker or as a target for gene-based therapy. (nature.com)
  • Postnatal diagnosis of pulmonary hypoplasia can be made with specific criteria such as clinical and radiologic criteria, or pathologic criteria such as lung weight or lung weight-to-body weight ratio, mean radial alveolar count, and DNA estimation for growth assessment at autopsy. (medscape.com)
  • Pneumonia , asthma , bronchiolitis , neonatal lung disease, pulmonary edema and various other pulmonary diseases impair the efficiency of oxygen transfer from the alveolus to the pulmonary capillaries through ventilation-perfusion (V/Q) mismatch. (medscape.com)
  • To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource - Rare Diseases Study. (biomedcentral.com)
  • Several of the identified genes, for example, RYR1 , ALLC , PTPRN2 , LRRC3B , PAX2 and VTRNA2-1 , are genes previously linked to either pesticide exposure or lung-related diseases. (bmj.com)
  • Priorities are given to members of the Asthma and Allergic Diseases Cooperative Research Centers, and the lung research community with established relationships to the Pulmonary and Critical Care Division. (wustl.edu)
  • Researchers around the globe are harnessing gene-expression profiling studies in a variety of clinical settings to prevent and treat a number of diseases. (genengnews.com)
  • However, only 10% of those who are infected advance to clinical diseases, such as pulmonary tuberculosis (PTB) [2] . (cdc.gov)
  • Here, we describe an intratracheally instilled lentiviral system able to deliver genes selectively to as many as 70% of alveolar macrophages (AMs) in the mouse lung. (jci.org)
  • Elastin in pulmonary pathology: relevance in tumours with a lepidic or papillary appearance. (bvsalud.org)
  • Working together with the lab of Heng Zhu in the Department of Pharmacology, we have also generated a protein microarray comprised of nearly 20,000 unique full-length human proteins, which we use to identify biochemical targets of developmentally important genes of interest. (hopkinsmedicine.org)
  • The gene expression pattern was influenced by the percentage of the sample made up of parenchyma. (nih.gov)
  • In pulmonary hypoplasia, the lung consists of incompletely developed lung parenchyma connected to bronchi that may be underdeveloped, depending on the timing of the insult. (medscape.com)
  • Studies evaluating the regulation of these genes at the transcriptional level revealed PD significantly reduced the transcription of PC I at 14 days. (aspetjournals.org)
  • Also our study indicated that WSC induced an increase in the transcriptional expression of matrix metalloproteinases, MMP-2 and MMP-9 and an immune response regulator, Toll Like Receptor-4. (who.int)
  • RefAuthors DeSandro, A., Nagarajan, U. M., Boss, J. M. RefTitle The bare lymphocyte syndrome: molecular clues to the RefTitle transcriptional regulation of major histocompatibility RefTitle complex class II genes. (lu.se)
  • Clinical features of paediatric pulmonary hypertension: a registry study. (medscape.com)
  • Gene expression profiling in pulmonary hypertension. (famri.org)
  • Lung compression may cause persistent pulmonary hypertension. (msdmanuals.com)
  • Although the exact pathogenesis is not fully understood, there are many initiating factors which cause the pulmonary tissue injury. (wikidoc.org)
  • The host genetic factors are assumed to play a critical role in tuberculosis pathogenesis, through impact on the gene expression of cytokines and chemokines, which are implicated in the host immune response. (cdc.gov)
  • Thus, infants and children with pulmonary disease may have a PaO 2 on the steep slope of the oxygen dissociation curve. (medscape.com)
  • In infants and children with pulmonary disease who live at moderate altitudes, changes in oxygen saturation can be observed, even as the barometric pressure falls with passing storm systems. (medscape.com)
  • At least one mutation in the BRAF gene has been identified in some people with Erdheim-Chester disease. (medlineplus.gov)
  • These data suggest that additional genetic, epigenetic, environmental factors, and gene × environment interactions contribute to disease. (biomedcentral.com)
  • By finding the gene expression profiles for each of these features, her team is able to identify those profiles that "match" disease to biology to drug and more effectively treat patients. (cityofhope.org)
  • The technique relies on the observation that inflammatory cytokines are often upregulated in those CF patients who will go on to have more severe pulmonary disease, but at levels too low to detect. (genengnews.com)
  • We have validated this technology and plan to use it to correlate gene-expression status to disease status and pulmonary function," Dr. Levy said. (genengnews.com)
  • As progressive pulmonary disease is the major cause of morbidity and mortality in CF patients, identifying markers of such disease should help plan appropriate, individualized courses of treatment. (genengnews.com)
  • We assist and collaborate in the characterization and use of genetically and phenotypically relevant animal models of disease and gene function. (hopkinsmedicine.org)
  • The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)
  • 10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
  • Although rare, pulmonary embolism, infections, or neoplasms in the allograft may be diagnosed in this manner, which would affect the decision to use the donor lung. (medscape.com)
  • The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
  • Kamath-Rayne BD, Saal H, Lang S, Habli M. Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation. (medscape.com)
  • Proline aids in the formation of collagen and mesenchyme in the lung, thus explaining the severe pulmonary hypoplasia in renal agenesis and dysplasias. (medscape.com)
  • The results provide evidence that genes involved in tissue remodeling and repair are differentially regulated in the lungs of obstructed smokers and suggest that they are potential therapeutic targets. (nih.gov)
  • TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. (medscape.com)
  • This allele was strongly associated with increased MUC5B gene expression in lung tissue from unaffected subjects. (nih.gov)
  • Immunofluorescence was used to subtype mucus cells according to MUC5B and MUC5AC expression and to identify ciliated, basal, and alveolar type II (ATII) cells in tissue sections from control and IPF/UIP subjects. (nih.gov)
  • The pulmonary function and lung tissue morphology in the treatment groups (APL, BY, EA, and BY + EA) were improved. (hindawi.com)
  • Here, we examined the expression of the HE4 gene and protein in a large series of normal and malignant adult tissues by oligonucleotide microarray and tissue microarray, respectively. (nature.com)
  • Using tissue microarrays and full tissue sections of normal and 448 neoplastic tissues, HE4 immunoreactivity was found in normal glandular epithelium of the female genital tract and breast, the epididymis and vas deferens, respiratory epithelium, distal renal tubules, colonic mucosa, and salivary glands, consistent with HE4 gene expression. (nature.com)
  • Here, we used oligonucleotide and tissue microarrays to survey HE4 gene and protein expression in a large group of malignant and normal tissues from adults. (nature.com)
  • 18 With the exception of the ovarian neoplasms, the same carcinomas analyzed for gene expression were also examined for HE4 by immunohistochemistry on tissue microarrays (see below). (nature.com)
  • Pulmonary hypoplasia or aplasia is part of the spectrum of malformations characterized by incomplete development of lung tissue. (medscape.com)
  • 2013). "Comparing the differential effects of LPA on the barrier function of human pulmonary endothelial cells" . (wikidoc.org)
  • Both genetics and environmental factors influence the expression of asthma, and not all asthma is the result of a specific immune response to allergen. (cdc.gov)
  • Pulmonary cytotoxicity, inflammatory cell influx, and relative mRNA expression of genes related to macrophage function and recruitment (Ccl2, Ccl22, and Arg1) were increased as a result of MWCNT exposure but not affected by OPN deficiency. (cdc.gov)
  • We conclude that SB706504 targets a subset of inflammatory macrophage genes and when used with dexamethasone causes effective suppression of these genes. (ox.ac.uk)
  • Our results indicate that the antifibrotic effect of PD was partly due to suppression of the BL-induced inflammatory events and partly due to down-regulation of BL-induced overexpression of lung procollagen I and III genes. (aspetjournals.org)
  • At the "Critical Assessment of Massive Data Analysis" conference held recently in Vienna, John Storey, from the Lewis-Sigler Institute for Integrative Genomics at Princeton University, gave a talk on dissecting the inflammatory complications in critically injured patients by within-patient gene-expression changes. (genengnews.com)
  • Neonatal pulmonary hypoplasia and perinatal mortality in patient with midtrimester rupture of amniotic membranes - A critical analysis. (medscape.com)
  • VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen. (medscape.com)
  • Kutasy B, Friemacher F, Duess JW, Puri P. Prenatal administration of retinoic acid increases the trophoblastic insulin-like-growth factor 2 protein expression in the nitrofen model of congenital diaphragmatic hernia. (medscape.com)
  • In addition, we performed genome-wide stratified and interaction analyses by gender, smoking and airway obstruction status, and assessed associations between gene expression and methylation for genome-wide significant CpGs (n=2802). (bmj.com)
  • There may be hypoplasia of the corresponding pulmonary arteries. (medscape.com)
  • But even so, gene-expression profiling can be enormously valuable in finding biomarkers, highlighting druggable targets, revealing the metabolic pathways important in a biological process, and identifying subsets of a population that might respond to a certain therapy or be more susceptible to a certain clinical outcome. (genengnews.com)
  • from gene and protein expression to function. (bvsalud.org)
  • Two of these genes, arginase 1 and eotaxin 1 are the focus of continuing investigations in mouse models of asthma regarding differences in mechanistic pathways depending on the allergen. (cdc.gov)
  • Micro- array data from the ovalbumin and TMA model of asthma were also compared to previous data using Aspergillus as allergen to identify putative asthma `signature genes', i.e. genes up-regulated with all 3 allergens. (cdc.gov)
  • Examples of high molecular environmental factors are known to influence the development weight occupational allergens include proteases used in the and expression of asthma, and a vast array of triggers of asthma detergent industry, laboratory animal allergens, and ovalbumin have been identified. (cdc.gov)
  • HE4 is one of more than 8900 different human genes represented on U95a GeneChips (Affymetrix, Santa Clara, CA, USA), which we used previously to develop a molecular classification of 175 human carcinomas based on patterns of gene expression. (nature.com)
  • We have profiled gene expression in both these tissues, from the start to the end of neurogenesis, characterizing the cellular expression patterns of more than 1,800 differentially expressed transcripts in both tissues. (hopkinsmedicine.org)
  • The higher expression of gremlin 1 and HIF1a genes after exposure to dragonfly larvae indicated an in vivo hypoxic reaction, while down-regulation of syndecan-2 may indicate impairment of angiogenesis. (biomedcentral.com)
  • Continued studies focused on genes showing minimal changes in the TMA-induced model but with clear up-regulation in the ovalbumin model. (cdc.gov)
  • Seven putative mycobacterial MTase genes ( Rv0645c , Rv2966c , Rv1988 , Rv1694 , Rv3919c , Rv2756c , and Rv3263 ) and Rv1392 as SAM synthase were selected for analysis. (ac.ir)
  • The hypoxemia in pulmonary hypoplasia stems from hypoventilation and right-to-left extrapulmonary shunting. (medscape.com)
  • Through proteomic analysis we demonstrated differential gene expression related to molecular function between metastasic OS (LM7) and non-metastasic (SAOS2) OS cell lines. (conicet.gov.ar)
  • Genetic analyses of larger cohorts using gene panels, exome sequencing (ES), or genome sequencing (GS) have further defined the frequency of individuals with deleterious variants in PAH risk genes and have identified novel candidate risk genes. (biomedcentral.com)
  • Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
  • The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. (biomedcentral.com)
  • Pulmonary OPN relative mRNA expression (peaked at 7 d) and protein levels were induced in wild-type mice following MWCNT exposure. (cdc.gov)
  • These profiles measure mRNA, not protein, so further studies are needed to corroborate that any detected changes in gene expression actually have meaning in the life of the cell. (genengnews.com)
  • Using mRNA from total blood leukocytes, they found that a full one-quarter of the human genome exhibits changes in expression levels during the early stages of post-trauma (40-80 hours post-trauma). (genengnews.com)
  • A detrimental role for oestrogens in FPAH is supported by studies that show oestrogen is a potent mitogen of pulmonary vascular smooth muscle cells 4 . (ersjournals.com)
  • If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
  • Early genetic linkage and candidate gene studies indicated an autosomal dominant mode of inheritance for PAH risk. (biomedcentral.com)
  • Fibroblast-Derived Extracellular Vesicle-Packaged Long Noncoding RNA Upregulated in Diabetic Skin Enhances Keratinocyte MMP-9 Expression and Delays Diabetic Wound Healing. (nih.gov)
  • The small molecule OGG1 inhibitor, TH5487, decreases myofibroblast transition and associated pro-fibrotic gene expressions in fibroblast cells. (lu.se)
  • BL treatment increased the lung procollagen I and III gene expressions in the BL + CD groups by several-fold at varying times compared with the corresponding SA + CD, and treatment with PD in the BL + PD groups significantly down-regulated the BL-induced overexpression of these genes. (aspetjournals.org)
  • Genes in this pathway have been shown to be involved in the activation of transforming growth factor (TGF)-beta1 and matrix metalloproteinases and are subject to inhibition by SERPINE2. (nih.gov)
  • The differences in gene expression profiles induced by the two predators suggest that there are functional differences between the altered tail tissues of the two groups of tadpoles. (biomedcentral.com)
  • however, the expression in normal and malignant adult tissues has not been examined in detail. (nature.com)
  • his statistical challenge in this study was to correlate gene expression over multiple time points, in multiple patients, with multiple and different clinical presentations. (genengnews.com)
  • His innovation was to correlate the within-patient change in gene expression with the severity of the clinical outcome, rather than using absolute expression values as has traditionally been done. (genengnews.com)
  • By measuring the change in expression within each patient, regardless of the patient's baseline values, this method leads more easily to a clinical translation of the results. (genengnews.com)
  • Cell function and gene expression analysis: Protocols and assistance with routine collection for protein and RNA are available. (wustl.edu)