Abstract:
:Many diseases with a major public health impact are the result of complex interactions between environmental factors and multiple genes. In the past decade, methods for genome analysis, in particular quantitative trait locus (QTL) analysis in animal models, were developed to identify and localize the genes responsible for multifactorial (polygenic) diseases; QTL analysis is based on experimental crosses between inbred strains with high and low genetic susceptibility. Recently the genes underlying several QTLs could be cloned successfully. Here we describe the impact of these genomic approaches in mice on our understanding of the multifactorial genetics of three gastrointestinal diseases related to metabolism (cholesterol cholelithiasis), development (gastroschisis), and colorectal cancer. The examples demonstrate how mouse models continue to be an invaluable tool in unravelling complex pathomechanisms and unlocking our understanding of human diseases.
journal_name
Eur J Clin Investjournal_title
European journal of clinical investigationauthors
Hillebrandt S,Matern S,Lammert Fdoi
10.1046/j.1365-2362.2003.01089.xkeywords:
subject
Has Abstractpub_date
2003-02-01 00:00:00pages
155-60issue
2eissn
0014-2972issn
1365-2362pii
1089journal_volume
33pub_type
杂志文章,评审abstract:BACKGROUND:The DALI low-density lipoprotein (LDL) apheresis system is the first whole-blood apheresis system in regular clinical use. DALI stands for direct adsorption of lipoproteins, which describes the basic principle of operation of this newly developed LDL apheresis procedure. METHODS:The selective removal of LDL...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1046/j.1365-2362.1998.00395.x
更新日期:1998-12-01 00:00:00
abstract::As increased oxidative stress is probably a pathogenetic factor in the development of diabetic complications, we studied nerve function and endogenous antioxidants in plasma, erythrocytes and sciatic nerve of untreated and insulin-treated streptozotocin-diabetic rats. After 18 weeks, the diabetes-induced sciatic nerve...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1996.510601.x
更新日期:1996-12-01 00:00:00
abstract:BACKGROUND:Improvement of renal concentration capacity was long ago shown to occur after surgery for primary hyperparathyroidism (pHPT). Study of concentration capacity is of interest, as it was also shown to be a predictive factor for the risk of death in patients with pHPT, and it affected the risk of death independe...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00926.x
更新日期:2001-12-01 00:00:00
abstract::Fabry disease is an X-linked lysosomal storage disorder characterized by multi-organ dysfunction, including hearing loss - mainly sensorineural. The recent introduction of enzyme replacement therapy (ERT) has resulted in improvements in renal and cardiac function, pain and quality of life. One study has also suggested...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2362.2006.01701.x
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:Inflammation is an established contributor in atherosclerosis and several other common diseases including diabetes. Therefore the study was to investigate how inflammatory factors affect lipid metabolism during recovery from hyperinsulinaemia in healthy individuals. MATERIALS AND METHODS:A total of 22 healt...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2006.01730.x
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:SOX6 has been recently proposed as a pleiotropic gene for obesity and osteoporosis. The aim of this study was to investigate whether the rs7117858 genetic variant in SOX6 was associated with bone mass assessed by quantitative ultrasound (QUS) and obesity-related measures in a population of young adults. MET...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.13011
更新日期:2018-10-01 00:00:00
abstract::We measured the renal haemodynamic and proteinuric response to a meat meal (MM) in ten persistently proteinuric insulin-dependent diabetic patients in a randomized cross-over study of 3 weeks on low protein diet (LPD) or normal protein intake (NPD). On LPD, protein intake (0.64 +/- 0.05 vs 1.15 +/- 0.09 g kg-1 body we...
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.1365-2362.1991.tb01807.x
更新日期:1991-04-01 00:00:00
abstract::Thirty-one patients with IgG antibodies to cardiolipin (ACLA) were studied to determine their in vivo formation of the platelet aggregating and vasoconstricting substance thromboxane A2 (TxA2) and the platelet inhibiting and vasodilating substance prostacyclin (PGI2). This was done by measurements in urine of their en...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1990.tb01908.x
更新日期:1990-12-01 00:00:00
abstract::During chronic high-altitude (HA) exposure, basal and exercise-induced noradrenaline (NA) increases do not parallel blood pressure (BP) changes observed; unlike beta-adrenergic receptors, to our knowledge no data are available on alpha-receptors. We studied platelet alpha 2- and leucocyte beta-receptors and basal cate...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1997.1150663.x
更新日期:1997-04-01 00:00:00
abstract::The aim of this research was to study exogenous prostacyclin effect on urinary kallikrein excretion (UKK) in man, to define whether prostacyclin-induced renin release and/or endogenously released cyclooxygenase products were responsible for prostacyclin-induced enhancement of UKK, to determine furosemide effect on UKK...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1986.tb01334.x
更新日期:1986-06-01 00:00:00
abstract:BACKGROUND:Although both strength training (ST) and endurance training (ET) seem to be beneficial in type 2 diabetes mellitus (T2D), little is known about post-exercise glucose profiles. The objective of the study was to report changes in blood glucose (BG) values after a 4-month ET and ST programme now that a device f...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2362.2005.01573.x
更新日期:2005-12-01 00:00:00
abstract::We recently reported that chloride-depletion metabolic alkalosis (CDMA) results in renal losses of Na, K, and water. In these studies we investigated whether CDMA (induced using a new model that avoids external changes in Na and water balance) was also associated with internal Na and water shifts out of the ECF. CDMA ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1991.tb01370.x
更新日期:1991-06-01 00:00:00
abstract:BACKGROUND:Although the incidence of co-existent pulmonary tuberculosis (PTB) and lung cancer in China is increasing, risk factors related to its development are still poorly understood. We aimed to investigate which clinical factors were associated with the odds of co-existent PTB and lung cancer (PTB-lung cancer) cas...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.13432
更新日期:2020-10-14 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:Differences in lipid parameters between patients with acute coronary syndromes (ACS) and patients with stable coronary artery disease (CAD) are unclear and are addressed in this study. METHODS:We enrolled 582 patients with angiographically proven stable CAD (of whom 26·9% had diabetes mellitus type 2 (T2DM)...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/eci.12513
更新日期:2015-10-01 00:00:00
abstract::Ten men with Klinefelter's syndrome were studied to assess the effect of testosterone replacement on plasma lipids and apolipoproteins. Measurements taken before the insertion of a testosterone ester implant were compared with those obtained 1 week and 4 weeks later. Mean plasma testosterone, androstenedione, total ch...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1989.tb00256.x
更新日期:1989-10-01 00:00:00
abstract::In a prospective study we investigated the possible changes in fasting serum total homocysteine concentrations during continuous micronized 17 beta-oestradiol, 2 mg daily, in combination with cyclic dydrogesterone, 10 mg daily during the first 14 days of each 28 day cycle, in 21 healthy non-hysterectomized postmenopau...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1994.tb01069.x
更新日期:1994-11-01 00:00:00
abstract::Fibronectin is a glycoprotein found in body fluids, loose connective tissue matrix and in basement membranes. Fibronectin in rheumatoid arthritis synovial fluid was immunologically indistinguishable from the plasma form, as shown by double-diffusion analysis. Fibronectin isolated from rheumatoid synovial fluid by affi...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1981.tb01842.x
更新日期:1981-06-01 00:00:00
abstract:BACKGROUND:Acute myocardial infarction (AMI) is followed by post AMI cardiac remodelling, often leading to congestive heart failure. Homing of c-kit+ endothelial progenitor cells (EPC) has been thought to be the optimal source for regenerating infarcted myocardium. METHODS:Immune function of viable peripheral blood mo...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2009.02111.x
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND:In Western societies colonic cancer most frequently develops in the distal colon, largely as a result of the composition of the diet. Modulation of dietary factors is therefore an attractive modality to reduce colorectal cancer risk. This study aims to evaluate the potentially protective effects of calcium i...
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.1365-2362.2002.01048.x
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:Diacylglycerols (DAGs), which are well-known components of insect lipophorins, have been recently recognized as a major glyceride of human high-density lipoprotein (HDL). Moreover, DAGs are good substrates for hepatic lipase and for the phospholipid transfer protein (PLTP). The present work was undertaken to...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1999.00438.x
更新日期:1999-02-01 00:00:00
abstract::Thyroid hormones occasionally appear less effective when administered alone to patients with panhypopituitarism, and manifestations suggestive of hypothyroidism have been reported in patients suffering from untreated Addison's disease. In the latter condition, thyrotropin secretion is increased: this occurs already af...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1987.tb02388.x
更新日期:1987-04-01 00:00:00
abstract:BACKGROUND:Inflammation and immune activation appear to be important in the pathogenesis of coronary heart disease (CHD). Cytokine interferon-gamma, which is released during cell-mediated immune responses, induces indoleamine (2,3)-dioxygenase (IDO), an enzyme degrading tryptophan to kynurenine. Therefore, immune stimu...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2003.01186.x
更新日期:2003-07-01 00:00:00
abstract::ATPase activities were determined in haemolysed and dialysed erythrocytes and in haemoglobin-free membranes of twenty patients with essential hypertension and twenty normotensive controls. Ouabain-sensitive ATPase (Na-K-ATPase) activity of haemolysate but not that of membranes was decreased in hypertensives whereas ou...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1985.tb00170.x
更新日期:1985-08-01 00:00:00
abstract::To diagnose hypolactasia, determination of lactase enzyme activity in small intestinal biopsy material is considered to be the golden standard. Because of its strongly invasive character and the sampling problems, alternative methods have been looked for. We analysed the 13C-glucose response in serum after consumption...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.2001.00791.x
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:In atherosclerosis, both reductions and elevations in plasma levels of antioxidants have been reported. This study investigated total antioxidant capacity of plasma from subjects with atherosclerotic disease. MATERIALS AND METHODS:The study population consisted of 48 men with or without carotid atherosclero...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1046/j.1365-2362.1998.00357.x
更新日期:1998-10-01 00:00:00
abstract::The concentration in serum of cathodal trypsinogen has been studied in certain clinical and experimental situations. The concentration correlated with pancreatic amylase activity. Low levels were found in patients with malabsorption due to exocrine pancreatic insufficiency. The concentration rose after endoscopic retr...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.1978.tb00868.x
更新日期:1978-12-01 00:00:00
abstract:BACKGROUND:Nasal nitric oxide (nNO) values are reduced in patients with cystic fibrosis (CF). Humming during nNO measurement increases nNO values in healthy subjects. Nasal NO is reduced in patients with CF, sinus disease or nasal polyps. Humming nNO values have not been reported in CF patients yet. Our aim was to expl...
journal_title:European journal of clinical investigation
pub_type: 杂志文章
doi:10.1111/j.1365-2362.2007.01758.x
更新日期:2007-02-01 00:00:00
abstract::Bradykinin infusion has been shown to improve glucose metabolism in non-insulin-dependent diabetic subjects (NIDD). Therefore, we tested the following hypothesis: inhibition of Kininase II, the bradykinin (BK) degrading enzyme, by captopril may also improve glucose metabolism in NIDD. Immediate effects of captopril on...
journal_title:European journal of clinical investigation
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2362.1987.tb01141.x
更新日期:1987-10-01 00:00:00
abstract::Microparticles are small membrane vesicles that are released from cells upon activation or during apoptosis. Cellular microparticles in body fluids constitute a heterogeneous population, differing in cellular origin, numbers, size, antigenic composition and functional properties. Microparticles support coagulation by ...
journal_title:European journal of clinical investigation
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2362.2004.01355.x
更新日期:2004-06-01 00:00:00