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 the pathogenesis of obesity and the metabolic syndrome (MSDR). DESIGN AND METHODS:To test this hypothesis, we PCR amplified the introns of the UCP2 gene and sequenced the exon/intron boundaries. This information was used to construct intronic primers and to screen obese patients with low BMR for mutations in the coding regions of the UCP2 gene, using the single-strand conformational polymorphism technique. Furthermore, we examined whether there is an association between a biallelic marker in the UCP2 gene and BMR or MSDR. RESULTS:The UCP2 gene is composed of six coding exons, covering 5 kb of chromosome 11q13. One polymorphism, but no mutations, were identified in the coding regions of the UCP2 gene. There were no significant differences in the allele or genotype frequencies of the Ala55Val polymorphism between 55 patients with MSDR and 46 healthy controls. No association was found between the UCP2 gene and BMR in patients with MSDR or in healthy controls. CONCLUSIONS:Mutation screening and association studies suggest that mutations in the coding regions of the UCP2 gene do not affect BMR and do not contribute to increased susceptibility to obesity or MSDR. The results cannot, however, exclude the possibility that variants in regulatory elements of the gene could contribute to the development of obesity or MSDR.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Klannemark M,Orho M,Groop Ldoi
10.1530/eje.0.1390217subject
Has Abstractpub_date
1998-08-01 00:00:00pages
217-23issue
2eissn
0804-4643issn
1479-683Xjournal_volume
139pub_type
杂志文章abstract::Puberty is the period during which we attain adult secondary sexual characteristics and reproductive capability. Its onset depends upon reactivation of pulsative GNRH, secretion from its relative quiescence during childhood, on the background of intact potential for pituitary-gonadal function. This review is intended:...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-13-0894
更新日期:2014-06-01 00:00:00
abstract:Background/objective:Data on metabolic impairments in Cushing's syndrome and GH deficiency all suggest that the relationship between cortisol and GH/IGF-I axis in obesity may have a role in the related diseases. However, studies focusing only on one of these hormones are often controversial in paediatrics. We aimed to ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0792
更新日期:2020-03-01 00:00:00
abstract:Background:Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone. Aim:To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0299
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:Affective alterations and poorer quality of life often persist in patients with Cushing's syndrome (CS) in remission. Brain-derived neurotrophic factor (BDNF) regulates the hypothalamic-pituitary-adrenal axis (HPA) and is highly expressed in brain areas controlling mood and response to stress. Our aims were t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0779
更新日期:2017-02-01 00:00:00
abstract::Ahead of Print article withdrawn by publisher. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0870
更新日期:2009-09-30 00:00:00
abstract:BACKGROUND:A stress reaction involving increased cortisol release, which has not been documented thus far, might affect the assessment of selectivity of catheterization during adrenal venous sampling (AVS). OBJECTIVE:To investigate whether an ACTH-driven cortisol release occurs during AVS and whether it influences the...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0972
更新日期:2012-05-01 00:00:00
abstract::Orthodenticle homolog 2 (OTX2) is a homeobox family transcription factor required for brain and eye formation. Various genetic alterations in OTX2 have been described, mostly in patients with severe ocular malformations. In order to expand the knowledge of the spectrum of OTX2 mutation, we performed OTX2 mutation scre...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-12-0333
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:GH deficiency (GHD) and glucocorticoid excess are associated with increased risk of fragility fractures. We aimed to evaluate whether the prevalence of vertebral fractures may be influenced by glucocorticoid over-replacement in hypopituitary males with GHD. DESIGN:Cross-sectional study. METHODS:Fifty-one ad...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-0125
更新日期:2010-07-01 00:00:00
abstract::Endocrine complications are frequently observed in childhood cancer survivors (CCS). One of two CCS will experience at least one endocrine complication during the course of his/her lifespan, most commonly as a late-effect of cancer treatments, especially radiotherapy and alkylating agent chemotherapy. Endocrine late-e...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-17-0054
更新日期:2017-04-01 00:00:00
abstract:CONTEXT:The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is poorly characterised. The ratios of 5α/5β-reduced metabolites of adrenal steroids in a urine steroid profile (USP) can give an indication of SRD5A2 deficiency, although the diagnostic cut-off for 5α/5β ratios are not clearly defin...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-10-0930
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:To compare the influence of transdermal and peroral oestrogen treatments in conjunction with cyproterone acetate (CPA) on metabolic and hormonal parameters in women with polycystic ovary syndrome (PCOS). PATIENTS AND METHODS:Twenty-four women with PCOS, aged 25.4+/-4.3 (mean+/-s.d.) years, body mass index 24...
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.0.1500215
更新日期:2004-02-01 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::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::Maintenance of fluid homeostasis during periods of heightened physical stress can be best evaluated in humans using exercise as a model. Although it is well established that arginine vasopressin (AVP), aldosterone and atrial natriuretic peptide (ANP) are the principle hormones regulating fluid balance at rest, the pot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0064
更新日期:2008-12-01 00:00:00
abstract::In vitro studies indicate a physiological role for insulin-like growth factor I (IGF-I) in paracrine regulation of testicular function and recent clinical studies suggest a potential role for growth hormone (GH) and/or IGF-I in the treatment of hypogonadotrophic states in males. This study aimed to examine the effects...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1310405
更新日期:1994-10-01 00:00:00
abstract::Glucocorticoid treatment causes osteoporosis and growth retardation in humans. Insulin-like growth factor I (IGF-I) stimulates differentiation and replication of cultured osteoblast-like cells and induces longitudinal bone growth in IGF-I-deficient rats. We investigated the influence of subcutaneously infused IGF-I on...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300387
更新日期:1994-04-01 00:00:00
abstract:Objective:Hypertension and symptoms of catecholamine excess are features of pheochromocytomas and paragangliomas (PPGLs). This prospective observational cohort study assessed whether differences in presenting features in patients tested for PPGLs might assist establishing likelihood of disease. Design and methods:Pati...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/EJE-19-0159
更新日期:2019-10-01 00:00:00
abstract::Glucose transporter-1 (GLUT1) has been found in high abundance in human placentas. The purpose of this study was to analyze the changes in the level of GLUT1 during pregnancy. We have analyzed the gestational changes in human placental GLUT1 by [3H]cytochalasin B binding assay, immunoblot analysis and Northern blot an...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1320206
更新日期:1995-02-01 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::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::Nitric oxide mediates a wide array of cellular functions in many tissues. It is generated by three known isoforms of nitric oxide synthases (NOS). Recently, the endothelial isoform, NOSIII, was shown to be abundantly expressed in the rat thyroid gland and its expression increased in goitrous glands. In this study, we ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360649
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND:Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genet...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0393
更新日期:2008-09-01 00:00:00
abstract::This study was designed to ascertain the long-term safety and efficacy profile of the somatostatin analogue octreotide as treatment of refractory acromegaly. Eight patients (aged 21-62 years) with persistent growth hormone (GH) elevation (duration 1-15 years) despite previous therapy were studied. Octreotide was given...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1320429
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:The cardiovascular system is a known target for thyroid hormone. Early-life cardiovascular alterations may lead to a higher risk of cardiovascular disease in adulthood. Little is known about the effects of thyroid hormone on cardiovascular function during childhood, including the role of body composition in t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0369
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVE:To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS:Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegia...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460519
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVE:Although fibroblast growth factor 23 (FGF23) has been implicated in the pathogenesis of cardiovascular disease, the relationship between FGF23 and cardiovascular disease has not been well characterized in the general population. The aim of this study was to determine whether serum FGF23 is independently assoc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-11-0577
更新日期:2011-11-01 00:00:00
abstract::An increased calcitonin serum level is suggestive of a medullary thyroid cancer (MTC), but is not pathognomonic. The possibility of false positives or other calcitonin-secreting neuroendocrine neoplasms (NENs) should be considered. Serum calcitonin levels are generally assessed by immunoradiometric and chemiluminescen...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-20-0506
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:Hormone treatment is an important part of gender reassignment therapy in gender dysphoria. Previous data about efficacy and safety are commonly based on small cohorts or they comprise former cohorts under meanwhile obsolet therapy regimes. Our objective was to investigate these topics in a large cohort of ind...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0463
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:Thyroid hormone (TH) transporters are expressed in thyrocytes and most play a role in TH release. We asked whether expression of the monocarboxylate transporter 8 (MCT8) and the L-type amino acid transporters LAT2 and LAT4 is changed with thyrocyte dedifferentiation and in hyperfunctioning thyroid tissues. D...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0279
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:Estimates of the prevalence of hypothyroidism in unselected populations date from the late 1990s. We present an update on the prevalence and incidence of overt hypothyroidism in Piedmont, northwest Italy and examine the association between hypothyroidism and multiple chronic comorbidities. DESIGN AND METHODS...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0559
更新日期:2017-05-01 00:00:00