Abstract:
:CLTA4 is relevant for FOXP3(+)Treg cells, and the link between skewed X chromosome inactivation (XCI) and autoimmunity is recognized. The observation of immune dysregulation polyendocrinopathy enteropathy X-linked syndrome and multiorgan endocrine autoimmune phenomena in various members of one family, associated with a CTLA4 polymorphism and skewed XCI, provides an in vivo model of how mechanisms of immune dysregulation may cooperate.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Seidel MG,Rami B,Item C,Schober E,Zeitlhofer P,Huber WD,Heitger A,Bodamer OA,Haas OAdoi
10.1530/EJE-12-0197subject
Has Abstractpub_date
2012-07-01 00:00:00pages
131-4issue
1eissn
0804-4643issn
1479-683Xpii
EJE-12-0197journal_volume
167pub_type
杂志文章abstract::Activating mutations of G proteins, which are membrane signal transducers, have been associated recently with the development of various endocrine neoplasms. Mutations of two highly conserved codons, Arg201 and Gln227, in the alpha-subunit of the Gs protein, the adenylyl cyclase-stimulating protein, were first describ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330166
更新日期:1995-08-01 00:00:00
abstract:OBJECTIVE:The uncoupling protein 2 (UCP2) uncouples respiration from the oxidative phosphorylation in most cell types, predominantly in white fat and skeletal muscle. Since a decreased basal metabolic rate (BMR) would increase the susceptibility to weight gain, genetic alterations in the UCP2 gene could contribute to t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390217
更新日期:1998-08-01 00:00:00
abstract:UNLABELLED:To improve management of patients with Graves' orbitopathy, a multi-center collaborative approach is necessary in order to have large enough sample sizes for meaningful randomized clinical trials. This is hampered by a lack of consensus on how to investigate the eye condition. The European Group on Graves' O...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/eje.0.1480491
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of the growth factor activin A on the secretion of prolactin (PRL) and GH in cultured GH3 cells. METHODS:The concentrations of PRL and GH secreted from GH3 cells cultured in media with and without activin A were measured by RIA, and the expression of PRL mRNA and GH mRNA were analyzed ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420506
更新日期:2000-05-01 00:00:00
abstract::Genetic predictors of outcome are reviewed in the context of a disease--cancer--that can be (too) simplistically described as a 'successful, invasive clone of our own tissues'. Context has many faces that determine a thyroid cancer patient's outcome beyond the influence of genetic markers. There is also plenty of evid...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0605
更新日期:2016-04-01 00:00:00
abstract::The expression of the neuropeptide Y (NPY) gene varies considerably in human pheochromocytomas, but the mechanisms for this variation have not been clarified. To investigate the regulation pattern of the NPY gene in human pheochromocytomas, we screened 16 pheochromocytomas and 9 normal adrenal tissues with Northern bl...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410431
更新日期:1999-10-01 00:00:00
abstract::Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes that function within...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-20-0299
更新日期:2020-10-01 00:00:00
abstract::Previous work has examined potential links between the etiology of GH deficiency (GHD) and the baseline characteristics of the patients including biochemical and psychometric parameters. Using an update of the KIMS pharmaco-epidemiological database (Pfizer International Metabolic Database), we addressed the question h...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0273
更新日期:2009-11-01 00:00:00
abstract::Retinoids seem to act as agents of chemoprevention and differentiation in breast diseases. Their action is mediated by nuclear receptors, retinoic acid receptors (RAR alpha, RAR beta, RAR gamma) and retinoid X receptors (RXR alpha, RXR beta, RXR gamma) and modulated by cellular retinol binding proteins (CRBP). There a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1370410
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Levels of thyroid hormone (TH) and trace elements (copper (Cu) and selenium (Se)) are important for development and function of the brain. Anti-epileptic drugs (AEDs) can influence serum TH and trace element levels. As the relationship between AEDs, THs, and trace elements has not yet been studied directly, ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-1081
更新日期:2016-04-01 00:00:00
abstract::The best test for the assessment of the hypothalamic-pituitary-adrenal (HPA) axis remains a matter of controversy. We compared the performance of the short synacthen test (SST, 250 microg) with the insulin stress test (IST) to assess the reliability of the former as a first line test. Patients with pituitary disease u...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390580
更新日期:1998-12-01 00:00:00
abstract::Glucocorticoids (GCs) inhibit bone formation in vivo and inhibit osteoblast proliferation and collagen synthesis in vitro. These effects may be mediated by alterations in the insulin-like growth factor (IGF) system. In the present study of normal human osteoblast-like (HOB) cells, we tested the hypothesis that dexamet...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1340591
更新日期:1996-05-01 00:00:00
abstract::The secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) is regulated by gonadotropin-releasing hormone (GnRH). As men age, mean serum concentrations of immunoreactive gonadotropic hormones tend to increase, while serum testosterone concentrations tend to decline. To evaluate age-related change...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1350399
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:Though transsphenoidal surgery remains the first-line treatment of Cushing's disease, recurrence occurs frequently. Conventional radiotherapy and anticortisolic drugs both have adverse effects. Stereotactic radiosurgery needs to be evaluated more precisely. The aim of this study was to determine long-term hor...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02323
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:Leptin secretion is reduced by low temperatures in experimental animals, and this effect has been explained as an adaptive mechanism to cold environments. This study investigated the in vitro effects of cold exposure on human white adipose tissue. DESIGN:To understand whether the low temperature action is a ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420195
更新日期:2000-02-01 00:00:00
abstract::In 2006, two major society-sponsored guidelines and one major consensus statement for thyroid diagnosis and management were published by: the American Association of Clinical Endocrinologists/Associazione Medici Endocrinologi (AACE/AME); the American Thyroid Association (ATA); and the European Thyroid Association (ETA...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0135
更新日期:2008-11-01 00:00:00
abstract::Glucocorticoids are potent osteopenic agents, producing negative calcium and bone balance via actions at many sites. The most significant adverse effects of glucocorticoid drugs on the skeleton are probably a direct inhibition of matrix synthesis by the osteoblast, reductions in calcium absorption in both the gut and ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1370209
更新日期:1997-09-01 00:00:00
abstract::Four groups(N = 3 per group) of juvenile rhesus monkeys (Macaca mulatta, 14-20 months old) received either vehicle or highly purified human follicle-stimulating hormone (FSH; 10 IU kg-1 day-1), human chorionic gonadotropin (hCG; 250 IU every alternate day) or both hormones for a period of 4 weeks. Testicular volume an...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330235
更新日期:1995-08-01 00:00:00
abstract::A comparative study of high-dose (HD, carbimazole 60 mg plus thyroxine 100-150 micrograms daily) and titration-dose (TD) regimens of carbimazole was carried out in 70 patients with Graves' disease, the patients being assigned randomly to one or other regimen. The treatment was given for 1 year and follow-up was for 2 ...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1310120
更新日期:1994-08-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) is the most common endocrine cancer and its incidence has increased in recent decades. Initial treatment usually consists of total thyroidectomy followed by ablation of thyroid remnants by iodine-131. As thyroid cells are assumed to be the only source of thyroglobulin (Tg) in the hu...
journal_title:European journal of endocrinology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1530/EJE-14-0148
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVE:Patients with craniopharyngioma are at an increased risk for cardio- and cerebrovascular mortality. The metabolic syndrome (MetS) is an important cardiometabolic risk factor, but barely studied in patients with craniopharyngioma. We aimed to investigate the prevalence of and risk factors for the MetS and its ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0387
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:Recent trials suggest that using ergot-derived dopamine agonists such as cabergoline in the treatment of Parkinson's disease is associated with an increased risk of valvular heart disease. However, the dose of cabergoline used to treat hyperprolactinaemia is considerably less than that used in Parkinson's dis...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0365
更新日期:2008-10-01 00:00:00
abstract::Tumor necrosis factor-alpha (TNF-alpha) exerts various effects on many cell types. Acute administration of TNF-alpha to rats decrease hepatic 5'-deiodinase activity (5'D-I) and TNF-alpha has been implicated in the pathogenesis of the low triiodothyronine syndrome in non-thyroidal illness in humans. The thyroid, liver ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300502
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:To determine the benefit of periodical clinical screening of carriers of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because any useful discussion requires more concrete data. DESIGN AND METHODS:Our study population consisted of all the patients with MEN-1 (n=58) who were treated at t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1490577
更新日期:2003-12-01 00:00:00
abstract:Objectives:Inoperable or metastatic paragangliomas (PGLs) and malignant pheochromocytomas (PCCs) are rare tumours with limited options for systemic treatment. Aim of this study was to assess the safety and efficacy of the radiolabelled somatostatin analogue (177LutetiumDOTA0-Tyr3)octreotate (177Lu-DOTATATE) for the tre...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0901
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:Postmenopausal estradiol (E(2)) levels vary widely between individuals and this variation is an important determinant of diseases such as osteoporosis. It has been suggested that the estrogen receptor alpha (ESR1) gene may influence peripheral E(2) levels, but the role of common sequence variations in the ESR...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.01973
更新日期:2005-08-01 00:00:00
abstract::As differentiated (follicular and papillary) thyroid cancer (DTC) may recur years after initial treatment, follow-up of patients with DTC is long term. However, this population has changed, with more individuals being discovered at an earlier stage of disease, so that previous follow-up protocols based mostly on data ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1510539
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:This study evaluated the short- and long-term cardiovascular- and cancer-related morbidities during cross-sex hormone therapy in a large sample of trans persons. SUBJECTS AND METHODS:A specialist center cross-sectional study compared 214 trans women (male-to-female transsexual persons) and 138 trans men (fem...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0493
更新日期:2013-09-13 00:00:00
abstract:INTRODUCTION:In an animal model of acromegaly (PEPCK-hGH transgenic mice), low systemic levels of ghrelin have been observed compared with normal mice. We hypothesized that systemic circulating ghrelin levels are also decreased in humans with active acromegaly and that the contribution of central ghrelin production to ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470195
更新日期:2002-08-01 00:00:00
abstract:BACKGROUND:The human androgen receptor (AR) gene contains two polymorphisms of CAG and GGN repeats respectively. The GGN repeat function is still largely unknown and to date there are no in vivo data on this segment with respect to the general population. METHODS:We investigated the impact of CAG and GGN repeats on ma...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02204
更新日期:2006-08-01 00:00:00