Abstract:
:Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol. Mutations causing this disorder have been characterized by hybridization analysis of patient DNA samples using cDNA and oligonucleotide probes, and by cloning and sequencing of mutant 21-hydroxylase (CYP21B) genes. About 20% of mutant alleles carry a 30 kilobasepair deletion that includes the 3' end of the CYP21A pseudogene, the C4B complement gene, and the 5' end of CYP21B, leaving behind a single CYP21A-like gene that is not functional. Non-deletional mutations include a nonsense mutation at codon 318 that is associated with severe disease and missense mutations at codons 172 (isoleucine to asparagine) and 281 (valine to leucine) that are respectively associated with intermediate and mild deficiency states. All of these alleles have apparently resulted from gene conversion events that have transferred deleterious mutations from the CYP21A pseudogene to CYP21B. Thus, recombinations between CYP21A and CYP21B probably account for the majority of 21-hydroxylase deficiency alleles.
journal_name
Endocr Resjournal_title
Endocrine researchauthors
White PCdoi
10.1080/07435808909039099subject
Has Abstractpub_date
1989-01-01 00:00:00pages
239-56issue
1-2eissn
0743-5800issn
1532-4206journal_volume
15pub_type
杂志文章abstract:OBJECTIVES:The aim of this study was to investigate the effect of pioglitazone on serum uric acid (UA) levels and several diabetic parameters in drug-naïve subjects with type 2 diabetes mellitus (T2DM). PATIENTS AND METHODS:The patients (n = 68) received 7.5-30 mg/day pioglitazone monotherapy. They were divided into t...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2012.745128
更新日期:2013-08-01 00:00:00
abstract::Recent studies from our laboratory have shown that human chorionic gonadotropin (hCG), human luteinizing hormone (hLH), and CG-like proteins from Xanthomonas maltophilia (xCG) and Candida albicans (CaCGLP) induce Candida albicans transition from blastospores to hyphal forms. Xanthomonas maltophilia CG-like protein (xC...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809409035852
更新日期:1994-02-01 00:00:00
abstract::In order to investigate the regulation of connexin distribution in rapidly growing cells, we evaluated the effects of dibutyryl cyclic adenosine monophosphate (DbcAMP) treatment on the cellular location of endogenous connexin 43 (Cx43) in an adrenal tumor cell population. Polyclonal antibodies to Cx43 and a Cx43 green...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120016983
更新日期:2002-11-01 00:00:00
abstract::The CYP11B2 gene encodes aldosterone synthase, a cytochrome P450 (P450aldo) expressed in high levels in the adrenal zona glomerulosa. While the primary physiologic regulators of aldosterone production are circulating angiotensin II (Ang II) and potassium (K+) the action of these agents on CYP11B2 gene transcription ha...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809609043735
更新日期:1996-11-01 00:00:00
abstract:PURPOSE:Thyroglobulin (Tg) assessment in the needle washout after fine-needle aspiration biopsy (FNAB) of a suspicious neck lymph node (LN) is known to improve the diagnostic accuracy in patients with papillary thyroid cancer (PTC). However, there is still controversy on the best diagnostic cut-off levels for FNAB-Tg a...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2016.1141936
更新日期:2016-11-01 00:00:00
abstract::Purpose: Limited and contradictory data on the circulating levels of glucagon-like peptide (GLP-1) and resistin in hepatitis C virus genotype-4 (HCV-4) cirrhotic patients are present. Thus, this study aimed to evaluate their concentrations and to investigate the association between total GLP-1, resistin, and insulin r...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2019.1627551
更新日期:2020-02-01 00:00:00
abstract::Excessive aldosterone secretion in some hypertensive patients may result from abnormal aldosterone synthase (AS) gene regulation in response to changes in dietary sodium intake. We have utilized NCI-H295 cells, which exhibit stable angiotensin-induced aldosterone secretion, for transient transfections with murine AS/h...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809509030462
更新日期:1995-02-01 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
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::Y1 cells derived from mouse tumor zona fasciculata cells (ZF) were used to assess the importance of extracellular (EC) calcium availability via voltage-dependent calcium channels (VDCC) on steroidogenesis. The steroidogenic response to ACTH was investigated in the presence of blockers known to affect both calcium and ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809609043745
更新日期:1996-11-01 00:00:00
abstract::The presence of vasoactive intestinal peptide and neuropeptide Y in thyroid nerves and their effects on thyroid blood flow are well known. However, the effects of these two neuropeptides on the various processes involved in thyroid hormone biosynthesis and release have not been fully explored. We have now tested these...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809209026678
更新日期:1992-01-01 00:00:00
abstract::CYP17 is not expressed in adult mouse adrenal glands but is expressed in a subset of fetal adrenocortical cells, indicating the potential to produce both corticosterone and cortisol during murine embryogenesis. CYP11A is expressed in the fetal adrenal but also in developing hindgut, which will form the colon, and in c...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809509030425
更新日期:1995-02-01 00:00:00
abstract:AIMS/HYPOTHESIS:Glucose tolerance progressively declines with age, and there is a high prevalence of type 2 diabetes in the elderly people. Previous studies have reported the sex differences in risk for type 2 diabetes, especially in the elderly people, whereas reasons for these sex differences remain poorly understood...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2015.1124437
更新日期:2016-08-01 00:00:00
abstract::We have previously reported that the protein kinase C ligand 12-O-tetradecanoyphorbol-13-acetate (TPA) inhibited the angiotensin II (AII) stimulated CYP11B2 gene expression in the adrenocortical H295R cell line. Here we report that TPA increased the level of phospho-p44/42 MAPK but AII did not. The MEK1 inhibitor PD98...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-200044048
更新日期:2004-11-01 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::Endothelin-1 (ET-1) is involved in adrenal steroid secretion but its cell origin remains unclear. We showed, using RT-PCR the expression of the mRNAs for preproET-1 and ECE-1 in primary cultures of human adrenal cells enriched in glomerulosa cells. Since these expressions could be due to contamination of steroid secre...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032680
更新日期:1998-08-01 00:00:00
abstract:AIM:To evaluate, retrospectively, the frequency of antithyroid antibodies (ATA) in patients with type 1 diabetes (T1D). MATERIALS AND METHODS:Antithyroperoxidase antibodies (TPO-Ab), antithyroglobulin antibodies (TG-Ab), and antithyroid-stimulating hormone receptor antibodies (TSHR-Ab) were determined by enzyme-linked...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2011.639318
更新日期:2012-01-01 00:00:00
abstract::Background: Evidence has shown that low thyroid hormone levels may lead to worse prognosis including a higher mortality rate in patients with heart failure (HF). Thyroid replacement increases cardiac output and exercise performance without causing significant adverse events. The purpose of this study is to compare lev...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2019.1645165
更新日期:2020-02-01 00:00:00
abstract::A 30-residue peptide corresponding to the amino acid sequence of steroidogenesis activator peptide (SAP) from rat Leydig tumor cells has been synthesized by the solid-phase method using Boc protection. SAP is the putative cycloheximide-sensitive, cAMP-regulated mediator of ACTH-stimulated conversion of cholesterol to ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809109027204
更新日期:1991-01-01 00:00:00
abstract::X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by abnormal accumulation of saturated very long chain fatty acids in tissues and body fluids with predominance in brain white matter and adrenal cortex. The clinical phenotype is highly variable ranging from the severe childhoo...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120016999
更新日期:2002-11-01 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::The prostate gland of humans and other animals has the unique function of accumulating and secreting extraordinarily high levels of citrate. The prostate secretory epithelial cells synthesize citrate which, due to a limiting mitochondrial (m-) aconitase, accumulates rather than being oxidized. Thus citrate is essentia...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800009040143
更新日期:2000-02-01 00:00:00
abstract::In a previous study we demonstrated a significant increase of CD5+ B subset in patients with Graves' disease (GD) compared with normal controls. The aim of this study was to compare the percentage of CD5+ B and CD5- B cells in GD with that in different forms of autoimmune and non immune-mediated thyroid diseases. Seve...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809709031844
更新日期:1997-02-01 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::Fifteen patients affected by new-onset Graves' disease with ophthalmopathy have been examined for lymphocyte subset phenotypes by two-colour cytometric analysis. CD5+ B cells were significantly increased in comparison to the normal population (43.2 +/- 20.6% versus 19.5 +/- 6.9%; p < 0.0009); total T cells showed a no...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809309035409
更新日期:1993-03-01 00:00:00
abstract::Neuropeptide Y (NPY) and calcitonin gene-related peptide (CGRP) are both intrapancreatic neuropeptides that are known to inhibit stimulated insulin secretion. In the present study, we examined their influences on basal and stimulated glucagon and insulin secretion in the mouse. Either NPY or CGRP was injected intraven...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435808709035466
更新日期:1987-01-01 00:00:00
abstract:AIM:To determine whether hyperuricemia is associated with the early phase and late phase of insulin release in apparently healthy non-obese subjects with normal glucose tolerance. MATERIALS AND METHODS:A population-based cross-sectional study was performed. Apparently healthy individuals aged 20 to 65 years were eligi...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2016.1155597
更新日期:2017-02-01 00:00:00
abstract::TRH is negatively regulated by T3 both in the hypothalamic paraventricular nucleus and transient transfection models. Mutations in hTR beta 1 genes are associated with the syndrome of generalized resistance to thyroid hormone. To investigate potential effects of mutant TRs on T3 regulation of the hTRH gene, transient ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809709031859
更新日期:1997-11-01 00:00:00
abstract::Recent evidence supports the hypothesis that sympathetic neurons play a significant role in the regulation of adrenocortical cell proliferation and steroidogenesis. Co-cultures of rat adrenocortical and sympathetic ganglion cells have been established to study sympatho-adrenal interactions. In these studies we have co...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809609043786
更新日期:1996-11-01 00:00:00
abstract::Neutrophils have an important role in the host defense. The elevated serum glucose levels of diabetics affect traditional host defenses such as neutrophil counts and functions. The causes of these impairments are not clear. We aimed to investigate changes of peripheral neutrophil counts and functions and their relatio...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809909066155
更新日期:1999-08-01 00:00:00