Abstract:
OBJECTIVE:Mutations in the melanocortin-4 receptor gene (MC4R) are the most common monogenic form of human obesity. However, the contribution of MC4R mutations to obesity in Chinese has not been investigated. We studied the frequency of MC4R mutations in an obese southern Chinese population and the functional consequences of the novel variants identified. METHODS:We screened for MC4R mutations in 227 obese [body mass index (BMI) 35.29 +/- 5.75 kg/m2] and 100 lean (BMI 21.57 +/- 0.29 kg/m2) southern Chinese subjects using PCR-direct sequencing. In vitro functional studies, including cell surface expression, ligand binding, and cyclic adenosine monophosphate (cAMP) accumulation, were performed to examine the functional properties of three novel missense mutations. RESULTS:Apart from two previously reported polymorphisms, V103I and -176 A > C, three novel missense heterozygous variants (Y35C, C40R and M218T) were identified. The polymorphisms -176 A > C and Y35C were detected in both obese and normal subjects with similar frequency. C40R was identified only in an obese subject. Pedigree analysis revealed M218T carriers in both lean and obese subjects. The prevalence of V103I carriers in normal-weight controls was significantly higher than that in obese subjects (5.3%vs. 1.3%, P < 0.05). In vitro functional studies showed that all three novel missense variants have normal functions. CONCLUSIONS:Two known polymorphisms and three novel variants of the MC4R were identified. No overt functional defects were observed for the three novel MC4R variants, suggesting that they might not be the cause of obesity in variant carriers.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Rong R,Tao YX,Cheung BM,Xu A,Cheung GC,Lam KSdoi
10.1111/j.1365-2265.2006.02573.xsubject
Has Abstractpub_date
2006-08-01 00:00:00pages
198-205issue
2eissn
0300-0664issn
1365-2265pii
CEN2573journal_volume
65pub_type
杂志文章abstract:OBJECTIVES:Graves' disease (GD) complicates 0.1% to 0.2% of pregnancies, but congenital thyrotoxicosis is rare occurring in one in 70 of these pregnancies independent of maternal disease status. Antenatal prediction of affected infants is imprecise; however, maternal history, coupled with a high maternal serum TSH rece...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01173.x
更新日期:2001-03-01 00:00:00
abstract::Two brothers of Greek Cypriot origin, karyotype 46 XY, aged 17 and 19 years were brought up as females because of predominantly female external genitalia with clitoromegaly and urogenital sinus. At puberty there was genital masculinization with testicular enlargment and descent and development of male musculature and ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb02727.x
更新日期:1980-04-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the volumetric bone mineral density (BMD) in girls with Turner's syndrome (TS) before and during growth hormone (GH) treatment in combination with low dose oestrogens as well as three years after discontinuation of GH treatment. DESIGN:In a prospective, randomized injectio...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.2000.00963.x
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVE:The optimal treatment regimen with thionamide drugs remains a matter for debate. We have investigated whether high doses of carbimazole, when compared with low doses, reduce relapse rates of Graves' disease. DESIGN:In an open label, randomized, prospective trial of treatment of Graves' disease we compared hi...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1998.00446.x
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:Recent studies have shown that a relatively high number of diabetic patients may have unsuspected Cushing's syndrome (CS). The aim of the present study was to screen for CS in adult patients with newly diagnosed diabetes mellitus who were not selected for clinical characteristics, such as poor control and obe...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02865.x
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:Three independent genome-wide association studies in white populations have reported that single nucleotide polymorphisms (SNPs) in the KIAA0350 gene are associated with susceptibility to type 1 diabetes (T1D). The gene product of KIAA0350 is predicted to be a sugar binding C-type lectin. In the present study...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03437.x
更新日期:2009-07-01 00:00:00
abstract::We studied variables known to change with thyroid hormone status in 18 patients with subclinical hypothyroidism before and during treatment with thyroxine in a dose sufficient to restore the plasma TSH response to TRH to normal. There was an associated increase in both plasma total T4 and free T4 within the normal ran...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01068.x
更新日期:1985-01-01 00:00:00
abstract::After administration of intravenous metoclopramide, a dopaminergic receptor blocking agent, no rise in thyroid stimulating hormone (TSH) could be found in patients with chronic renal failure, in contrast to non-uraemic controls. Basal TSH values were normal in the uraemic patients but the TSH response to thyrotrophin-...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00687.x
更新日期:1981-11-01 00:00:00
abstract::A receptor assay for TSH receptor antibodies is described in which unextracted serum, detergent solubilised TSH receptors and 125I-labelled TSH are used. The assay was rapid and reproducible with coefficients of inter-assay variation of 12.3%, 2.1 and 2.6% at mean inhibition of TSH binding values of 11, 53, and 79 res...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00102.x
更新日期:1984-05-01 00:00:00
abstract::Familial Isolated Pituitary Adenomas (FIPA), an autosomal dominant disease with low penetrance is being increasingly recognized. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. Patients with mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are ch...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04445.x
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:Pubertal gynaecomastia is a very common condition. Although the underlying aetiology is poorly understood, it is generally accepted that excess of oestrogens and deficit of androgens are involved in the pathogenesis. Furthermore, adiposity as well as the GH/IGF-I axis may play a role. In this study, we elucid...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12323
更新日期:2014-05-01 00:00:00
abstract::A modified short ACTH test for the detection of heterozygote carriers of 21-hydroxylase deficiency (21-OHD) was applied to twenty-one controls and fourteen parents of children with 21-OHD. The following modifications were introduced: (1) Endogenous ACTH was suppressed by dexamethasone administration prior to the test,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01372.x
更新日期:1980-06-01 00:00:00
abstract::Current guidelines do not recommend the routine use of somatostatin analogue pretreatment prior to surgery in patients with growth hormone-secreting pituitary tumours. In theory, presurgical use of somatostatin analogues should improve metabolic control and reduce soft tissue swelling, leading to improved anaesthetic ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12553
更新日期:2014-12-01 00:00:00
abstract::In order to evaluate the effect of alpha-1 adrenoreceptor regulation of ACTH release during insulin-induced hypoglycaemia, we studied the response to hypoglycaemia with and without prazosin premedication in eight normal men. Prazosin pretreatment did not affect basal or peak plasma ACTH, cortisol or GH during hypoglyc...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1987.tb03632.x
更新日期:1987-01-01 00:00:00
abstract:OBJECTIVE AND DESIGN:The immediate early gene locus AP-1, incorporating the cellular oncogenes c-fos and c-jun (and their oncoprotein products Fos and Jun respectively) play a key role in regulating cell growth and differentiation. The myc-gene is also known to promote cell growth. In order to investigate the possible ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02453.x
更新日期:1994-01-01 00:00:00
abstract::Thyroid antibodies were demonstrated in 57% of thirty pernicious anaemia patients without overt thyroid disease. Elevated basal thyroid stimulating hormone (TSH) levels and an enhaced TSH response to thyrotrophin releasing hormone (TRH) only occurred in thyroid antibody positive subjects; by contrast the thyroid antib...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02005.x
更新日期:1977-02-01 00:00:00
abstract:OBJECTIVE:The purpose of the study was to evaluate plasma inhibin as a marker of hydatidiform mole and to compare the results with intact human chorionic gonadotrophin (hCG) and its free beta-subunit. DESIGN:Serial determinations of the plasma concentrations of inhibin, intact human chorionic gonadotrophin and its fre...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02524.x
更新日期:1994-08-01 00:00:00
abstract::Obesity may be characterized by abnormal sex steroid secretion and reduced sex hormone binding globulin (SHBG) which in turn is related to fat distribution and insulin secretion. Recent in-vitro and in-vivo evidence suggests that insulin is the common mechanism regulating the secretion of SHBG and insulin-like growth ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00507.x
更新日期:1990-09-01 00:00:00
abstract:OBJECTIVE:Little is known about the dose-response relationship of potential, unwanted, effects of inhaled beclomethasone (BDP) on the hypothalamo-pituitary-adrenal (HPA) axis, particularly in nonspecialist clinic settings. The purpose of our study was to investigate the dose-response relationship of inhaled BDP on the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.2391059.x
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:GH may be beneficial in treating patients with end-stage renal disease (ESRD). However, the efficacy and safety of GH could be compromised by the potential for accumulation in the circulation. OBJECTIVE:The objective was to investigate the pharmacokinetics and safety of GH treatment in ESRD patients. DESIG...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02962.x
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:Various studies have demonstrated coexistence of ovarian and adrenal hyperandrogenism in women. This study was designed to determine whether testosterone can increase the response of the adrenal gland to stimulation by adrenocorticotrophin (ACTH). DESIGN:Non-randomized intervention in a university teaching h...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb03010.x
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:Hypercortisolaemia is associated with an increased risk of cardiovascular disease (CVD), either through a direct action on the myocardium or by increased traditional cardiovascular risk factors. The aim of this study was to investigate whether the alterations in the ECG in Cushing's disease (CD) are predictab...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.03975.x
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Whether subclinical hypothyroidism adversely impacts pregnancy outcomes is inconclusive, and limited data are available on the optimal TSH range in women planning pregnancy. OBJECTIVE:To investigate the association between maternal preconception TSH levels and pregnancy outcomes. DESIGN:Population-based co...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13329
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVE:The level of growth hormone (GH), growth hormone secretogogue (GHS) and GHS receptor (GHSR) messenger ribonucleic acid (mRNA) expression has been reported as being higher in GH-producing pituitary adenomas than in other types of pituitary adenomas. Recently, ghrelin, an endogenous ligand specific for GHSR, wa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01286.x
更新日期:2001-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Clinical acromegaly is characterized by dysregulation of somatotroph GH secretion in the presence of high circulating serum IGF-I levels. Physiologically, IGF-I exerts a negative feedback on GH secretion at both the hypothalamic and the pituitary levels. We have previously shown that the 943 an...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01858.x
更新日期:1995-02-01 00:00:00
abstract:OBJECTIVE:To compare the outcome of different treatment options used in several cases of non-islet cell tumour hypoglycaemia (NICTH). PATIENTS:Eight cases of NICTH were referred for diagnosis and monitoring following either surgical or medical treatment. METHODS:Serum samples collected throughout the time-course of e...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.01989.x
更新日期:2004-04-01 00:00:00
abstract:OBJECTIVE:Genetic diagnosis available since 1993 established germinal mutations of the RET proto-oncogene at codon 634 as the main cause of inherited medullary thyroid carcinoma (MTC). International guidelines established in 1999 recommend that children with such mutations undergo a total thyroidectomy before age 5, wi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02559.x
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02460.x
更新日期:2006-03-01 00:00:00
abstract::The fundamental question in assessing an older man with a slightly low total testosterone and normal gonadotrophin levels is to determine whether or not he has clinical hypogonadism. Hypogonadism is defined as a clinical syndrome complex, which comprises both symptoms as well as biochemical testosterone deficiency. As...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03737.x
更新日期:2010-05-01 00:00:00
abstract::The glucocorticoid hormone cortisol is released in pulses resulting in a complex and dynamic ultradian rhythm of plasma cortisol that underlies the classical circadian rhythm. These oscillating levels are also seen at the level of tissues such as the brain and trigger pulses of gene activation and downstream signallin...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/cen.12470
更新日期:2014-08-01 00:00:00