Abstract:
BACKGROUND:Mutations in endoglin (ENG) and activin receptor-like kinase 1 (ALK-1 or ACVRL1) genes are the underlying basis of hereditary haemorrhagic telangiectasia (HHT) types 1 and 2, respectively. Both genes belong to the transforming growth factor-beta (TGF-beta) receptors superfamily and are expressed in endothelial cells. The current model for HHT is that ENG or ALK-1 haplo-insufficiency affects angiogenesis and predisposes to vascular dysplasia and arteriovenous malformations. MATERIALS AND METHODS:Using microarray technology, we compared human umbilical vein endothelial cells (HUVEC) from newborns with ENG or ALK-1 mutations to control cells to search for gene profiles associated with early stages of the disease. Real-time polymerase chain reaction and Western blot analysis were used to validate a subset of the modulated genes and functionally related genes. RESULTS:Our results indicate that HHT endothelial cells in vitro display several gene expression disturbances, including genes associated with the activation phase of angiogenesis, with cell guidance and intercellular connections, and also with the TGF-beta pathway. Hierarchical clustering using modulated genes enables discrimination between affected and non-affected samples. CONCLUSION:HHT HUVECs display gene modulations which can suggest that ENG and ALK-1 haplo-insufficiency induces compensatory regulatory mechanisms at the expression levels.
journal_name
Eur J Clin Investjournal_title
European journal of clinical investigationauthors
Thomas B,Eyries M,Montagne K,Martin S,Agrapart M,Simerman-François R,Letarte M,Soubrier Fdoi
10.1111/j.1365-2362.2007.01824.xsubject
Has Abstractpub_date
2007-07-01 00:00:00pages
580-8issue
7eissn
0014-2972issn
1365-2362pii
ECI1824journal_volume
37pub_type
杂志文章abstract:BACKGROUND:Acute hyperglycaemia is known to inhibit jejunal interdigestive motility. This study was undertaken to establish the effects of hyperglycaemia on fed jejunal motility and small intestinal transit time, and to establish if the effects of hyperglycaemia are mediated in part by hyperinsulinaemia. METHODS:Nine ...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2362.1998.00240.x
更新日期:1998-01-01 00:00:00
abstract::Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys). We identified a 46-year-old white female with severe hyperlipidaemia and the heterozygous apo E3/2* phenotype. Typical clinical characteristics of type III HLP, i.e. palmar xanthomas (orange-yellow...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1996.83232.x
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:obesity-related microvascular dysfunction, including alterations in rhythmic changes in vascular diameter, so-called 'vasomotion', may be important in the clustering of obesity with other cardiovascular risk factors. Adipokines have been suggested to play a role in obesity-related vascular dysfunction. Altera...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12284
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND:Right ventricular (RV) dysfunction in heart failure (HF) with reduced left ventricular ejection fraction (LVEF) is associated with a poorer prognosis. No studies to date have investigated the prognostic utility of RV isovolumic acceleration (IVA) measured at tissue Doppler imaging (TDI) in HF. RV strain inst...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12505
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Stiff Person Syndrome (SPS) is a relatively rare but often overlooked autoimmune neurological disorder that targets antigens within the brain's inhibitory pathways resulting in incapacitating stiffness and spasms that impact on the patients' quality of life. Although a number of immunomodulating therapies si...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2362.2010.02340.x
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:In dialysis patients, cardiac troponin T (cTNT) is often elevated despite the absence of acute myocardial ischaemia, and amino-terminal pro-B-natriuretic peptide (NT-proBNP) is markedly higher compared to non-haemodialysis patients. In a longitudinal observation, we evaluated the association of cTNT and NT-p...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2007.01785.x
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:Increased bone marrow (BM) hematogones (HGs) are often observed in patients with marrow regenerating status. Many studies have focused on the role of HGs in acute lymphoblastic leukaemia (ALL), but very little has been done to understand their effects on acute myeloid leukaemia (AML). MATERIALS AND METHODS:...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12151
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Sorafenib, a multikinase inhibitor that inhibits angiogenesis and carcinogenesis, has been used for patients with advanced hepatocellular carcinoma. However, sporadic cases have been reported with the development of hepatic encephalopathy (HE) after sorafenib treatment, mostly in those with cirrhosis. Liver ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12006
更新日期:2012-12-01 00:00:00
abstract::Urodilatin (ANF(95-126)) is an analogue of the atrial natriuretic factor (ANF(99-126)), which has been isolated from human urine. Recently we have shown in healthy volunteers, that intravenous bolus injections of synthetic urodilatin produce more pronounced reductions of pulmonary arterial pressure than ANF(99-126). T...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2362.1992.tb01427.x
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:Immunosuppression associated with surgery may predispose to increased tumour growth or recurrence. Lymphocytes are central components of the immune network, signalling specific and non-specific responses in tumour immunosurveillance. This study was therefore designed to compare the effects of minimally invas...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2362.2000.00622.x
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND/AIMS:Conflicting observations exist concerning the role of nuclear factor kappa B (NFjB) in alcoholic liver disease (ALD) in animal models. To date no studies have examined this aspect in human liver tissue. We here assessed cytokines and toll-like receptors (TLRs) expressions in conjunction with NFkappaB ac...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2010.02295.x
更新日期:2010-07-01 00:00:00
abstract::Immunoreactive parathyroid hormone (PTH) levels and nephrogenous cyclic adenosine monophosphate (cAMP) have been reported to be useful parameters in the diagnosis of hyperparathyroidism. Measurements in hyperparathyroid patients usually give values above the normal range when PTH is measured with a carboxyterminal rad...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1984.tb01128.x
更新日期:1984-06-01 00:00:00
abstract::Beta-thromboglobulin (beta TG), serotonin (5HT) and fibrinopeptide A (FPA) were assessed in twenty-two normal donors before, during, and at the end of leukapheresis. Seven procedures were carried out adding heparin to the circuit, and seven adding acetyl salicylic acid (ASA). The remaining eight procedures were carrie...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1985.tb00166.x
更新日期:1985-08-01 00:00:00
abstract::The siblings presented here are the third family found in Japan with familial LCAT deficiency. Their post-heparin plasma lipoprotein lipase and hepatic triglyceride lipase activities were measured selectively by an immunochemical method. Plasma triglyceride levels were elevated, and post-heparin plasma lipoprotein lip...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1984.tb02100.x
更新日期:1984-04-01 00:00:00
abstract::Oral lichen planus (OLP) is a common oral disorder that manifests a mucosal reaction to a variety of aetiological factors, including liver disorder. This study investigated the relationship between OLP and hepatitis C virus (HCV) infection by studying the prevalence of hepatitis B and C virus infection or liver diseas...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1995.tb01966.x
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND:Passive smoking is a well-known risk factor for both recurrent respiratory infections and disturbed lipid profile. Whether passive smoking problems are related to altered lymphocyte survival and its relation to altered lipid profile are the points of concern in this work. MATERIALS AND METHODS:Urinary cotin...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2010.02420.x
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Insulin has several biological functions besides glycaemic control. We investigated and compared the effects of six different commercial insulins on adipocyte cell differentiation, the lipolytic activity of differentiated cells, and the expression levels of genes involved in adipogenesis and associated with ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2011.02492.x
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Several studies have suggested that chronic obstructive pulmonary disease (COPD) could be predictive of the prognosis in patients with heart failure (HF), but yield conflicting findings. Therefore, we conducted a meta-analysis to examine the impact of COPD on adverse outcomes in patients with HF. METHODS:We...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/eci.13402
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Angiogenesis is essential for tumour growth and metastasis, and is coordinated by several classes of growth factors mediating their effect through receptors linked, in turn, to tyrosine kinase. These growth factors include angiopoietin-1 (Ang-1), angiopoietin-2 (Ang-2) and vascular endothelial growth factor ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2003.01243.x
更新日期:2003-10-01 00:00:00
abstract:BACKGROUND:The cholesterol-esterifying enzyme, lecithin:cholesterol acyltransferase (LCAT), is instrumental in high-density lipoprotein (HDL) remodelling. LCAT may also modify oxidative and inflammatory processes, as supported by an inverse relationship with HDL antioxidative functionality and a positive relationship w...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12481
更新日期:2015-08-01 00:00:00
abstract::Disseminated intravascular coagulation (DIC) is a frequently occurring complication of sepsis and may contribute to multiple organ failure. More insight into the pathogenesis of this derangement of the coagulation system is necessary to develop more effective therapeutic strategies for this condition. Recently, more d...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2362.1997.570614.x
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:In model biles, cholesterol crystallization (an important factor in gallstone formation) mainly depends on phospholipid/bile salt ratios with characteristic sequences of plate-like (monohydrate) vs. non-plate-like (presumed anhydrous: arcs, needles, tubules, spirals) cholesterol crystals. We now investigate ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2004.01409.x
更新日期:2004-10-01 00:00:00
abstract::In this study the muscarinic receptor antagonist atropine and the cholecystokinin (CCK)-A receptor antagonist loxiglumide were used to investigate the relative importance of cholinergic and CCK-mediated regulation of intestinal phase antro-pyloro-duodenal motility. Plasma levels of gastrointestinal hormones [pancreati...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2362.1996.1790522.x
更新日期:1996-07-01 00:00:00
abstract::Changes in blood glucose homeostasis induced by the new somatostatin analogue BIM 23014 (BIM) were studied. Eight normal men (study 1) received either vehicle or 1000, 2000 and 3000 micrograms BIM as a 24 h s.c. infusion. Blood glucose, plasma insulin, C-peptide, glucagon and growth hormone (GH) were measured before t...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2362.1992.tb01448.x
更新日期:1992-12-01 00:00:00
abstract::Two methods of measurement of fractional calcium absorption have been compared in the same individuals. There is a significant correlation between fractional 47Ca absorption as measured with a blood counting method and with an external counting method after intravenous and oral administration of 47Ca (P less than 0.00...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1978.tb00826.x
更新日期:1978-06-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate the significance of the development of a restrictive response to an acute saline load, defined as an increase in the ratio of peak early to peak late diastolic transmitral flow velocity (E/A ratio) associated with a decrease in the deceleration time, in patients with mild...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00873.x
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVES:EPB4.1 has been previously mapped to human chromosome 1p33-p34.2. In contradiction to this chromosomal location, we have mapped EPB4.1-1p36 by using fluorescence in situ hybridization and radiation hybrid mapping. In neuroblastomas, deletions of the telomeric end of chromosome 1 (1p36) are the most common ge...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00892.x
更新日期:2001-10-01 00:00:00
abstract::The collagenolytic activities were assayed in fibroblast cultures established from ten keratoconus and six control corneal explants. The assays included those for both type I and type IV collagenase. The amount of free, directly assayable type I collagenase was highly increased in the media of keratoconus primary cell...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1986.tb01311.x
更新日期:1986-02-01 00:00:00
abstract::Skeletal muscle glycogen deposition, and the activation of muscle glycogen synthase and pyruvate dehydrogenase during a hyerinsulinaemic euglycaemic clamp have been measured in six young and six elderly males matched for body mass index, physical activity and diet. Clamp glucose requirement (insulin, 0.1 U kg-1 h-1) w...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1988.tb01045.x
更新日期:1988-10-01 00:00:00
abstract::The contribution of the kinetics of exogeneous and endogenous lipoproteins in determining the level of triglyceride in fasting plasma was assessed in a group of 19 normolipidaemic and hypertriglyceridaemic subjects. From data derived during a 9-h infusion of [15N]-glycine, we have assessed very low density lipoprotein...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1992.tb01821.x
更新日期:1992-03-01 00:00:00