Analysis of the AAAS gene in a Japanese patient with triple A syndrome.

Abstract:

:Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. It has recently been reported that this syndrome is caused by mutations in the AAAS gene. In the present study, we analyzed the AAAS gene in a Japanese patient with triple A syndrome. The patient was a Japanese girl previously reported by Hirose et al. (J Jpn Pediatr Soc 102: 912-915, 1998). The parents of the patient were first cousins. The patient was confirmed to have alacrima and isolated glucocorticoid deficiency at the age of 2 years. She later developed achalasia of the cardia, and was diagnosed as having triple A syndrome. The AAAS gene was amplified by the PCR method, and the PCR products were directly sequenced. The patient was homozygous for a novel nonsense mutation Q237X, changing codon 237 encoding Gln (CAA) to a stop codon (TAA). The parents were heterozygous for the Q237X mutation. The AAAS gene encodes a protein of 546 amino acids, ALADIN. The Q237X mutation is predicted to result in a truncated and presumably non-functioning ALADIN protein, thus causing the clinically manifest syndrome in the patient. To our knowledge, this is the first report on AAAS gene mutations in Japan.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Katsumata N,Hirose H,Kagami M,Tanaka T

doi

10.1507/endocrj.49.49

subject

Has Abstract

pub_date

2002-02-01 00:00:00

pages

49-53

issue

1

eissn

0918-8959

issn

1348-4540

journal_volume

49

pub_type

杂志文章
  • Pioglitazone improves endothelial function with increased adiponectin and high-density lipoprotein cholesterol levels in type 2 diabetes.

    abstract::Endothelial dysfunction is considered to be an early event in the development of atherosclerosis. The present study was undertaken to evaluate endothelial function and biochemical markers in type 2 diabetes mellitus (T2DM) patients before and after treatment with or without pioglitazone (PIO). Forty-one T2DM patients ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k08e-308

    authors: Tsuchiya K,Akaza I,Yoshimoto T,Hirata Y

    更新日期:2009-01-01 00:00:00

  • Effect of triptolide on estradiol release from cultured rat granulosa cells.

    abstract::Triptolide, a major active component of Tripterygium wilfordii Hook F (TWHF), is known to have multiple pharmacological activities. However, studies have also shown that triptolide is highly toxic to the reproductive system by disrupting normal androgen and estrogen signaling. In the present study, we investigated the...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej11-0407

    authors: Zhang J,Liu L,Mu X,Jiang Z,Zhang L

    更新日期:2012-01-01 00:00:00

  • Screening of specific changes in mRNAs in thyroid tumors by sequence specific differential display: decreased expression of c-fos mRNA in papillary carcinoma.

    abstract::To examine the specific changes in gene expression in thyroid carcinomas, we performed sequence specific-differential display (SS-DD) analysis by using a specific degenerate primer for the superfamily of the small G protein. After subcloning and sequencing analysis, one of the genes that showed decreased expression in...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.459

    authors: Liu G,Takano T,Matsuzuka F,Higashiyama T,Kuma K,Amino N

    更新日期:1999-06-01 00:00:00

  • Effects of a diet with or without physical activity on angiopoietin-like protein 8 concentrations in overweight/obese patients with newly diagnosed type 2 diabetes: a randomized controlled trial.

    abstract::Angiopoietin-like protein 8 (ANGPTL8) is a newly discovered adipokine plays an important role in energy homoeostasis, obesity and type 2 diabetes (T2D). Although lifestyle modification in obesity and T2D is known to offer metabolic benefits, there is paucity of comprehensive data on change in ANGPTL8. We investigated ...

    journal_title:Endocrine journal

    pub_type: 杂志文章,随机对照试验

    doi:10.1507/endocrj.EJ18-0191

    authors: Hu H,Yuan G,Wang X,Sun J,Gao Z,Zhou T,Yin W,Cai R,Ye X,Wang Z

    更新日期:2019-01-28 00:00:00

  • Relationship between the serum concentrations of C-reactive protein and parameters of adiposity and insulin resistance in patients with type 2 diabetes mellitus.

    abstract::Serum C-reactive protein (CRP) concentrations have been reported to be associated with body fat, especially visceral fat accumulation, but most studies up to now have been conducted on non-diabetic subjects. In this study, we investigated the association between the serum CRP concentrations and parameters of adiposity...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k05-133

    authors: Iwasaki T,Nakajima A,Yoneda M,Terauchi Y

    更新日期:2006-06-01 00:00:00

  • The prevalence of hyperprolactinaemia in overt and subclinical hypothyroidism.

    abstract::The aims of this study were to: 1) determine the prevalence of hyperprolactinaemia in patients with newly diagnosed subclinical and overt hypothyroidism, and 2) investigate the change in PRL levels with treatment. In this observational study, patients with a new diagnosis of hypothyroidism in our endocrinology clinic ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-215

    authors: Hekimsoy Z,Kafesçiler S,Güçlü F,Ozmen B

    更新日期:2010-01-01 00:00:00

  • Plasma levels of insulin-like growth factor-I are reduced at one week of age in monosodium L-glutamate-treated mice.

    abstract::Administration of monosodium L-glutamate (MSG) to neonatal mice produces a hypothalamic syndrome consisting of stunted growth and later development of obesity. We assayed plasma insulin (IRI), thyroxine (T4) and insulin-like growth factor-I (IGF-I) to investigate their roles in the growth of the mice. Two mg/g body we...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.40.461

    authors: Yamamoto T,Matsuo S,Ueshima Y,Inoue F,Kinugasa A,Sawada T

    更新日期:1993-08-01 00:00:00

  • Proposal of diagnostic criteria for IgG4-related thyroid disease.

    abstract::Patients with IgG4-related disease (IgG4-RD) are diagnosed in Japan by comprehensive or organ-specific diagnostic criteria. To date, organ-specific criteria have been established for several organs, but not for the thyroid. We attempted to establish diagnostic criteria for IgG4-related thyroid disease (IgG4-RTD) based...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0557

    authors: Takeshima K,Li Y,Kakudo K,Hirokawa M,Nishihara E,Shimatsu A,Takahashi Y,Akamizu T

    更新日期:2021-01-28 00:00:00

  • Distribution of serum immunoglobulin G4 levels in Hashimoto's thyroiditis and clinical features of Hashimoto's thyroiditis with elevated serum immunoglobulin G4 levels.

    abstract::Immunoglobulin G4-related disease (IgG4-RD) is characterized by elevated serum IgG4 levels, IgG4-positive plasmacytes, and lymphocyte infiltration into multiple organs. IgG4 thyroiditis is a subset of patients with Hashimoto's thyroiditis (HT) who exhibited histopathological features of IgG4-RD; its source of serum Ig...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0157

    authors: Takeshima K,Ariyasu H,Inaba H,Inagaki Y,Yamaoka H,Furukawa Y,Doi A,Furuta H,Nishi M,Akamizu T

    更新日期:2015-01-01 00:00:00

  • Mutation of RET proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

    abstract::To determine whether patients with medullary thyroid carcinoma (MTC) develop other endocrine neoplasms or their relatives develop MTC, we investigated the mutations in the RET proto-oncogene in patients with multiple endocrine neoplasia type 2B (MEN 2B, N = 1) and sporadic MTC (N = 6). DNA from MTC tissue and the peri...

    journal_title:Endocrine journal

    pub_type: 临床试验,杂志文章

    doi:10.1507/endocrj.44.559

    authors: Migita M,Hiromatsu Y,Sato M,Yang D,Kameo J,Jimi A,Nonaka K

    更新日期:1997-08-01 00:00:00

  • Familial occurrence of subacute thyroiditis.

    abstract::Although subacute thyroiditis (de Quervain's thyroiditis) is presumed to be caused by a viral infection, only 2 familial occurrences of subacute thyroiditis have been reported in the literature. Typical and severe subacute thyroiditis was diagnosed in an older sister who was hospitalized for 8 days. During this period...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.49.207

    authors: Kabalak T,Ozgen AG

    更新日期:2002-04-01 00:00:00

  • Correlation of the dysmetabolic risk factors with different anthropometric measurements.

    abstract::Metabolic syndrome is a common disorder in Taiwan. For this study 431 subjects were randomly selected from visitors to the Department of Health Management. Blood pressure, blood glucose, lipid, uric acid levels and anthropometric measurements with immunoreactive insulin (IRI) and leptin levels were all correlated. We ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.52.139

    authors: Chiou WK,Lin JD,Weng HF,Ou YC,Liu TH,Fang JT

    更新日期:2005-02-01 00:00:00

  • Correlation between baseline serum 1,5-anhydroglucitol levels and 2-hour post-challenge glucose levels during oral glucose tolerance tests.

    abstract::Since there is increasing evidence that postprandial hyperglycemia is a risk factor for the development of macrovascular complications, it is important to predict postprandial hyperglycemia in the early stages of glucose intolerance, and routine medical checkups provide a good opportunity to do so. The aim of this stu...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-224

    authors: Goto M,Yamamoto-Honda R,Shimbo T,Goto A,Terauchi Y,Kanazawa Y,Noda M

    更新日期:2011-01-01 00:00:00

  • Comparative efficacy and safety of tyrosine kinase inhibitors for thyroid cancer: a systematic review and meta-analysis.

    abstract::The tyrosine kinase inhibitors (TKIs) sorafenib, lenvatinib, vandetanib, and cabozantinib are currently used for thyroid cancer treatment; however, the differences in their clinical efficacy and toxicity remain unclear. This meta-analysis assessed the efficacy and toxicity of these four TKIs based on 34 studies. The p...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0171

    authors: Oba T,Chino T,Soma A,Shimizu T,Ono M,Ito T,Kanai T,Maeno K,Ito KI

    更新日期:2020-12-28 00:00:00

  • The influence of American Society of Anesthesiologists Physical Status on patient morbidity and survival after total thyroidectomy.

    abstract::In cases of thyroid papillary carcinoma, a less aggressive cancer, surgeons may hesitate to perform total thyroidectomy on patients with poor general condition because these may experience longer survival without undergoing surgery. To investigate the influence of general patient condition on the patients' survival wh...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ16-0342

    authors: Shinohara S,Kikuchi M,Harada H,Takebayashi S,Yunoki K,Yamazaki K

    更新日期:2016-11-30 00:00:00

  • A rare case of oncocytic adrenocortical carcinoma clinically presented as an incidentaloma.

    abstract::Adrenocortical carcinoma (ACC) is a rare aggressive tumor originating from adrenocortical parenchymal cells and its incidence is approximately 1 per million population per year. An oncocytic ACC is a recently identified entity among the several known histopathological variants of ACC, which is characterized by oncocyt...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0024

    authors: Harada K,Yasuda M,Nakano Y,Yoshida K,Umeda Y,Yagi T,Yamazaki Y,Sasano H,Otsuka F

    更新日期:2020-08-28 00:00:00

  • Prognosis of patients with papillary carcinoma showing anaplastic transformation in regional lymph nodes that were curatively resected.

    abstract::Anaplastic carcinoma arises from differentiated carcinoma and generally shows a dire prognosis. Anaplastic transformation may occur not only in primary tumors but also in metastatic lymph nodes. We encountered 5 cases of papillary carcinoma showing anaplastic transformation in lymph nodes that were curatively resected...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k08e-148

    authors: Ito Y,Higashiyama T,Hirokawa M,Fukushima M,Inoue H,Yabuta T,Tomoda C,Uruno T,Kihara M,Takamura Y,Miya A,Kobayashi K,Matsuzuka F,Miyauchi A

    更新日期:2008-12-01 00:00:00

  • Morphological difference in adult thyroid papillary carcinoma between Japan and Ukraine.

    abstract::Geographic differences have been reported to affect the morphological and molecular features of papillary thyroid carcinomas (PTCs). The area around Chernobyl is well-known to be iodine-deficient in contrast to Japan, an iodine-rich country. We reviewed histological differences in adult PTC between Ukraine and Japan. ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ14-0239

    authors: Ito M,Bogdanova T,Zurnadzhy L,Saenko V,Rogounovitch T,Mitsutake N,Kondo H,Maeda S,Nakashima M,Tronko M,Yamashita S

    更新日期:2014-01-01 00:00:00

  • The change in thyroid hormone signaling by altered training intensity in male rat skeletal muscle.

    abstract::Aerobic (sub lactate threshold; sub-LT) exercise training facilitates oxidative phosphorylation and glycolysis of skeletal muscle. Thyroid hormone (TH) also facilitates such metabolic events. Thus, we studied whether TH signaling pathway is activated by treadmill training. Male adult rats received 30 min/day treadmill...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ16-0126

    authors: Lesmana R,Iwasaki T,Iizuka Y,Amano I,Shimokawa N,Koibuchi N

    更新日期:2016-08-31 00:00:00

  • Immunohistochemical localization of growth factor-regulated channel (GRC) in human tissues.

    abstract::Insulin-like growth factor-I activates a calcium-permeable cation channel GRC (growth factor-regulated channel). In the present study, we investigated the immunohistochemical localization of GRC in human tissues using a polyclonal anti-GRC antibody. Immunoreactive GRC was detected in the stomach, duodenum, large intes...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.49.349

    authors: Kowase T,Nakazato Y,Yoko-O H,Morikawa A,Kojima I

    更新日期:2002-06-01 00:00:00

  • The effect of MTHFR C677T polymorphism on type 2 diabetes mellitus with vascular complications in Chinese Han population: a meta-analysis.

    abstract::Methylenetetrahydrofolate reductase plays an important role in folate metabolism. Individuals who are type 2 diabetes mellitus have greatest risk for the development of vascular complications. The results of studies which assessed the association between MTHFR C677T polymorphism and T2DM with vascular complications we...

    journal_title:Endocrine journal

    pub_type: 杂志文章,meta分析

    doi:10.1507/endocrj.ej14-0071

    authors: Zhang D,Zhou Y,Han L,Ji H,Li J

    更新日期:2014-01-01 00:00:00

  • Insulin secretion-sensitivity index-2 could be a novel marker in the identification of the role of pancreatic iron deposition on beta-cell function in thalassemia major.

    abstract::The purpose of this study is to evaluate the impact of insulin secretion-sensitivity index-2 (ISSI-2) in the identification of the role of pancreatic iron deposition on beta-cell function in thalassemia major. Tissue iron stores were measured with magnetic resonance imaging (MRI) in the liver (R2), pancreas (R2*), and...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ19-0191

    authors: Karadas N,Yurekli B,Bayraktaroglu S,Aydinok Y

    更新日期:2019-12-25 00:00:00

  • Inappropriate elevation of intact PTH in the presence of normocalcemia after successful surgery for primary hyperparathyroidism.

    abstract::We describe here a patient with primary hyperparathyroidism who had high serum intact PTH levels for over 16 months after parathyroidectomy without signs of recurrence or persistence of the disease. The patient was a 48-year-old female who appeared well nourished (body mass index, 23.7). She was received subtotal gast...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.609

    authors: Mimura Y,Kanauchi H,Ogawa T,Ohkura F,Kaminishi M

    更新日期:1998-10-01 00:00:00

  • Insulin requirement profiles in Japanese hospitalized subjects with type 2 diabetes treated with basal-bolus insulin therapy.

    abstract::To assess the total daily inulin dose (TDD) and contribution of basal insulin to TDD and to identify the predictive factors for insulin requirement profiles in subjects with type 2 diabetes, we retrospectively examined insulin requirement profiles of 275 hospitalized subjects treated with basal-bolus insulin therapy (...

    journal_title:Endocrine journal

    pub_type: 杂志文章,多中心研究

    doi:10.1507/endocrj.EJ14-0487

    authors: Shimoda S,Okubo M,Koga K,Sekigami T,Kawashima J,Kukidome D,Igata M,Ishii N,Shimakawa A,Matsumura T,Motoshima H,Furukawa N,Nishida K,Araki E

    更新日期:2015-01-01 00:00:00

  • Falsely elevated thyroid hormone levels caused by anti-ruthenium interference in the Elecsys assay resembling the syndrome of inappropriate secretion of thyrotropin.

    abstract::The syndrome of inappropriate secretion of thyrotropin (SITSH) is defined as the inappropriate non-suppression of serum TSH in the presence of elevated free thyroid hormone; TSH-secreting pituitary adenomas and the syndrome of resistance to thyroid hormone are the main etiologies of SITSH. In addition, erroneous thyro...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej12-0089

    authors: Ohba K,Noh JY,Unno T,Satoh T,Iwahara K,Matsushita A,Sasaki S,Oki Y,Nakamura H

    更新日期:2012-01-01 00:00:00

  • Low molecular weight hyaluronan increases the Uptaking of oxidized LDL into monocytes.

    abstract::Since accumulation and interaction of immune cells including T cells and monocytes/macrophages are involved in the processes of atherosclerosis, atherosclerosis is currently understood as an inflammatory disorder. Entrapment of extracellular matrices components such as hyaluronan by monocytes and macrophages, as well ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k05-120

    authors: Tabata T,Mine S,Okada Y,Tanaka Y

    更新日期:2007-12-01 00:00:00

  • Tissue-specific effects of protein malnutrition on insulin signaling pathway and lipid accumulation in growing rats.

    abstract::Our previous studies have revealed that protein malnutrition enhances insulin signaling in rat liver and muscle in response to a bolus insulin injection. However, it has not been established whether protein malnutrition up-regulates insulin signaling under physiological conditions, such as feeding. Here, we studied th...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej13-0514

    authors: Toyoshima Y,Tokita R,Taguchi Y,Akiyama-Akanishi N,Takenaka A,Kato H,Chida K,Hakuno F,Minami S,Takahashi S

    更新日期:2014-01-01 00:00:00

  • Activin A as a critical mediator of capillary formation: interaction with the fibroblast growth factor action.

    abstract::The present study was conducted to elucidate the role of activin A in capillary formation. When bovine aortic endothelial cells (BAEC) were cultured in a collagen gel, basic fibroblast growth factor (FGF-2) induced tube formation. Activin A also induced tube formation and the addition of two factors together was more ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k06-222

    authors: Hayashi Y,Maeshima K,Goto F,Kojima I

    更新日期:2007-04-01 00:00:00

  • A case of isolated ACTH deficiency who developed autoimmune-mediated hypothyroidism and impaired water diuresis during glucocorticoid replacement therapy.

    abstract::A case of isolated ACTH deficiency who developed autoimmune-mediated hypothyroidism and still showed impaired water diuresis during glucocorticoid replacement therapy is reported. A 45-year-old woman was initially admitted for nausea, vomiting, and general malaise. Her serum sodium and plasma osmolality, ACTH and cort...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.667

    authors: Kageyama Y

    更新日期:2000-12-01 00:00:00

  • Thyroxine prophylaxis after bilateral subtotal thyroidectomy for multinodular goiter.

    abstract::In this study, we investigated the value of thyroxine administration to prevent recurrence after bilateral subtotal thyroidectomy for multinodular goiter. Patients that had benign multinodular goiter were operated on with the same surgical principles: ligation of both superior and inferior thyroid arteries on both sid...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.349

    authors: Kulaçoglu H,Dener C,Ziraman I,Kama NA

    更新日期:2000-06-01 00:00:00