Abstract:
UNLABELLED:Absract Purpose: Mutations in the TPO gene have been reported to cause congenital hypothyroidism (CH), and our aim in this study was to determine the genetic basis of congenital hypothyroidism in two affected children coming from a consanguineous family. METHODS:Since CH is usually inherited in autosomal recessive manner in consanguineous/multi case-families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in linked-gene by Sanger sequencing. RESULTS:The family showed potential linkage to the TPO gene and we detected a non-sense mutation (Y55X) in both cases that had total iodode organification defect (TIOD). The mutation segregated with disease status in the family. Y55X is the only truncating mutation in the exon 2 of the TPO gene reported in the literature and results in the earliest stop codon known in the gene to date. CONCLUSIONS:This study confirms the pathogenicity of Y55X mutation and demonstrates that a nonsense mutation in the amino-terminal coding region of the TPO gene could totally abolish the function of the TPO enzyme leading to TIOD. Thus it helps to establish a strong genotype/phenotype correlation associated with this mutation. It also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.
journal_name
Endocr Resjournal_title
Endocrine researchauthors
Cangul H,Darendeliler F,Saglam Y,Kucukemre B,Kendall M,Boelaert K,Barrett TG,Maher ERdoi
10.3109/07435800.2014.967354subject
Has Abstractpub_date
2015-01-01 00:00:00pages
146-50issue
3eissn
0743-5800issn
1532-4206journal_volume
40pub_type
杂志文章abstract:PURPOSE:Primary hyperparathyroidism (PHPT) has been associated with increased incidence of morbidity and mortality of the cardiovascular system. The pathogenetic mechanisms underlying this association are still not completely clear. A disintegrin and metalloproteinase with thrombospondin-like motifs (ADAMTS) play a cri...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2017.1368543
更新日期:2018-02-01 00:00:00
abstract::Total collagen and its soluble fraction as well as water content were determined in late pregnancy in the uterine cervix in a population of 36 rats treated with progesterone (n = 10), mifepristone (n = 13) and controls (n = 13). In both treated groups there were no signs of delivery on the 21st day of gestation. Water...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809509030477
更新日期:1995-08-01 00:00:00
abstract::Thyroid dysfunction influences the levels of Von Willebrand factor (VWF:Ag). Plasma VWF:Ag levels in 35 hyperthyroid patients were significantly elevated, which had a positive correlation with both T3 (Triiodothyronine) and T4 (Thyroxine) levels. A follow-up study of seven hyperthyroid patients undergoing anti-thyroid...
journal_title:Endocrine research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/07435809309033019
更新日期:1993-01-01 00:00:00
abstract::In order to clarify the roles of cholinergic and serotonergic neurotransmission in the mediation of exercise-induced growth hormone (GH) release, normal young volunteers of both sexes were studied. Exercise was for 20 minutes at 800 kpm for the men and 500 kpm for the women. Pretreatment with 0.4 mg atropine 1 hour pr...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435808609035433
更新日期:1986-01-01 00:00:00
abstract::The effect of crowding on the pituitary-gonadal axis was studied in adult male rats. Crowding reduced body weight gain, did not alter relative adrenal weight and increased relative testis weight. Neither basal levels of corticosterone nor its response to acute stress were altered by crowding. Likewise, LH secretion wa...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435808609035431
更新日期:1986-01-01 00:00:00
abstract:OBJECTIVES:The diagnosis and management of osteoporosis and osteoporotic fractures are challenging in rural and underdeveloped areas of China because medical resources are inaccessible; thus, a simple and accurate method is essential for the detection of vertebral fractures. We aimed to examine the relationship between...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2020.1827263
更新日期:2021-02-01 00:00:00
abstract::Maternal smoking is considered to be a risk factor for low birth weight. It is hypothesized that alteration in leptin concentration may be associated with reduced fetal growth. In this study, we assess the effect of smoking during pregnancy on maternal and neonatal serum leptin concentrations, and also on breast milk ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800500371748
更新日期:2005-01-01 00:00:00
abstract::Combined partial deficiency of 17alpha-hydroxylase and 21-hydroxylase activities was first described in 1985; however the genes for P450c17 and P450c21 in these patients lack mutations. In 1986 we postulated that this disorder might be due to mutations in P450 oxidoreductase (POR), the flavoprotein that donates electr...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-200044134
更新日期:2004-11-01 00:00:00
abstract::Pretreatment of confluent human fibroblast cultures for two days in dexamethasone, serum free medium increased 10-20 fold the sensitivity of the cells to insulin-like growth factor I (IGF I) stimulation of amino acid uptake using the amino acid analog alpha-aminoisobutyric acid (AIB). This increased sensitivity result...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435808909042743
更新日期:1989-01-01 00:00:00
abstract::Metabolic syndrome was first proposed in 1988 and has been recognized as a powerful predictor for cardiovascular disease and diabetes. At the same time, white blood cell count (WBCC) was proposed to have significant correlation with metabolic syndrome (MS). In this study, we attempted to investigate the relationship b...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800500229151
更新日期:2005-01-01 00:00:00
abstract::The sexual dimorphism of life span and caloric restriction effects in numerous species suggest that estradiol (E2) is protective against oxidative damage. The only direct test of E2's protective effect in mice against in vivo oxidative stress to date may have been confounded by E2's direct chemical action as an antiox...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800902913600
更新日期:2009-01-01 00:00:00
abstract::This study was performed on 18 postmenopausal female volunteers in order to examine changes in sex hormone binding globulin (SHBG), high density lipoprotein cholesterol (HDLC), total cholesterol (TC) and serum triglyceride (TG) levels in a period of four months of moderate physical exercise. While SHBG decreased signi...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809209111036
更新日期:1992-01-01 00:00:00
abstract::It was the aim of this study to test for a possible effect of the new non ergot dopamine agonist CV 205-502 on plasma growth hormone (GH) concentrations in acromegaly. 10 acromegalic patients received a single oral dose of 150 micrograms CV 205-502 after an overnight fast. As a control group 7 acromegalic patients und...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809409035856
更新日期:1994-02-01 00:00:00
abstract::Two distinct isoforms of 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) with respect to enzymatic activity were identified in the ovine liver and kidney. 11 beta-HSD1 (the hepatic isoform) was reversible and NADP(H)-dependent. By contrast, 11 beta-HSD2 (the renal isoform) was unidirectional and NAD-dependent. Ovin...
journal_title:Endocrine research
pub_type: 杂志文章,评审
doi:10.3109/07435809509030453
更新日期:1995-02-01 00:00:00
abstract::Purpose/aim of the study: Graves' ophthalmopathy (GO) is closely related to the thyroid autoimmune disorder Graves' disease. Previous studies have suggested roles for thyroidal CD8+ T cells and autoimmunity against calsequestrin-1 (CASQ)-1 in the link between thyroidal and orbital autoimmune reactions in GO. A role fo...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2018.1470639
更新日期:2018-11-01 00:00:00
abstract::There are several published reports on the prevalence of low vitamin D levels in otherwise healthy Indian population. Vitamin D deficiency has shown variable effect on muscle performance and strength but there is paucity of data on the effect of vitamin D deficiency on muscle energy metabolism. The present study was p...
journal_title:Endocrine research
pub_type: 临床试验,杂志文章
doi:10.3109/07435800.2013.865210
更新日期:2014-01-01 00:00:00
abstract::There are two main regulatory sites of aldosterone biosynthesis, the early rate-limiting step by the P450scc and the final steps by the P450aldo. We have already demonstrated that, during gestation, activity and mRNA levels of P450aldo are increased. It has been shown that changes in sodium and potassium in the diet m...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032648
更新日期:1998-08-01 00:00:00
abstract:INTRODUCTION:Adenosine deaminase (ADA), purine nucleoside phosphorylase (PNPase), S-adenosylhomocysteine hydrolase (SAHH), 5'-nucleotidase (5N), and deoxycytidine kinase (dCK) are involved in purine salvage metabolism. Changes of the activities of the above enzymes have been observed in blood cells in patients with imm...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120015059
更新日期:2002-08-01 00:00:00
abstract:PURPOSE:The purpose of this study was to evaluate the expression of the glucose transporters GLUT1 and GLUT3 in papillary thyroid carcinomas (PTCs) and to elucidate their relationship with the BRAF V600E mutation and F-18 FDG uptake. MATERIALS AND METHODS:We retrospectively analyzed data of 52 PTC patients (41 women a...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2015.1066803
更新日期:2016-01-01 00:00:00
abstract::Two CYP21 genes, the active CYP21 and the pseudogene, CYP21P, also pairs of duplicated genes including the XA, XB, XB-S; YA, YB; and ZA, ZB are arranged in tandem next to the serum complement C4 genes (C4A and C4B). In this report, we have analyzed the influence of some DNA sequences within the C4A/CYP21P region on th...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032659
更新日期:1998-08-01 00:00:00
abstract::Biochemical mechanisms by which analogs of thyrotropin-releasing hormone (TRH) produce their potent neuropharmacological actions on the brain remain ill-defined. We tested effects of YM14673, a novel analog of TRH, on TRH receptors in rat brains in vitro. No significant binding of [3H]YM14673 to brain plasma membranes...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809509030493
更新日期:1995-11-01 00:00:00
abstract::The stimulation of the zona glomerulosa phenotype by a low sodium diet is characterised by increased expression of aldosterone synthase accompanied by increases in (pro)renin, bFGF, c-fos and c-jun gene transcription. In contrast ACTH diminishes the specific glomerulosa phenotype. The EGF related transmembrane protein...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032720
更新日期:1998-08-01 00:00:00
abstract::The enzyme, 3 beta-hydroxysteroid dehydrogenase/delta 5-4 isomerase (3 beta-HSD) is an essential element in the biosynthetic pathway for potent adrenal steroid hormones that appear to regulate maturation of many tissues in utero and are critical for homeostasis after birth. The results of prior studies are suggestive ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809509030422
更新日期:1995-02-01 00:00:00
abstract::Using Western blot analysis we found transcriptional co-repressor Sin3A to be expressed at a higher level in male mouse kidney than in females. HDAC1 (histone deacetylase 1) protein, another co-repressor forming complexes with Sin3A, was not higher in males. No sex differences in Sin3A expression were found after gona...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800500229243
更新日期:2005-01-01 00:00:00
abstract::The enzyme 3beta-hydroxysteroid dehydrogenase plays a crucial role in the steroidogenic process in the adrenal gland. In the present study we tried to characterize its localization and developmental changes in the rat adrenal cortex during the postnatal period, using immunohistochemical methods. The development of the...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809909066126
更新日期:1999-02-01 00:00:00
abstract::In addition to regulating renal sodium resorption and, thus, intravascular volume, aldosterone may have direct effects on the cardiovascular system. We previously identified a polymorphism (-344C/T) in the promoter of the aldosterone synthase (CYP11B2) gene that affects binding of the SF-1 transcription factor and thu...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032690
更新日期:1998-08-01 00:00:00
abstract::Several lines of evidence have suggested that the nuclear receptor Steroidogenic Factor-1 (SF-1 or Ad4BP) may be directly involved in the cAMP-dependent regulation of steroid hydroxylase genes in adrenocortical cells. In the bovine CYP17 gene, which encodes the cytochrome P450 17alpha-hydroxylase, an SF-1 site is pres...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032638
更新日期:1998-08-01 00:00:00
abstract::The secretory activity of the adrenal gland is mainly regulated by peptidergic hormones (ACTH, angiotensin II) and ions. However, there is now increasing evidence that local factors, including neuropeptides and neurotransmitters, can also participate in the control of adrenocortical cells. In particular, serotonin (5-...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032670
更新日期:1998-08-01 00:00:00
abstract::A comparative study (n = 20) of serum levels of leutinizing hormone (LH) and testosterone (T) between male trained athletes (high-school students, 16-18 years old) living in North and South Shouna in the Jordan Valley (JV), 320-360 meters below sea level, and those living in Ramtha and Irbid, 550-650 meters above sea ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-100107165
更新日期:2001-02-01 00:00:00
abstract::We quantitated serial serum beta-hydroxybutyrate (beta-OHB) levels using the Ketosite method in 9 children with IDDM who were treated for diabetic ketoacidosis (DKA) and compared them to urinary ketone measurements by dipstick. Persistent elevations of serum beta-OHB were seen in six patients when the urine became cle...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-100107168
更新日期:2001-02-01 00:00:00