Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas.

Abstract:

:Recent studies indicate that succinate dehydrogenase (SDH) genes B, C, or D are, at least partly, involved in the pathogenesis of pheochromocytoma or paraganglioma. Of these three genes, the SDHD gene mutation is most closely related with paragangliomas of the neck. Here we describe a case of an SDHD-related paraganglioma, in which we studied the molecular characteristics of an SDHD mutation to evaluate the involvement of SDHD in neck paragangliomas. Genetic testing revealed a heterozygous G106D mutation in the SDHD gene. In the tumor tissue, loss of heterozygosity was demonstrated by real time polymerase chain reaction (PCR). In the present case of SDHD mutated paragangliomas, wild type SDHD gene expression was markedly reduced possibly due to loss of heterozygosity not due to imprinting of SDHD gene in the tumors.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Yamashita R,Usui T,Hashimoto S,Suzuki H,Takahashi M,Honkura K,Iwamoto K,Kodama E,Tagami T,Naruse M,Shimatsu A,Kaise K

doi

10.1507/endocrj.k09e-111

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

1129-35

issue

9

eissn

0918-8959

issn

1348-4540

pii

JST.JSTAGE/endocrj/K09E-111

journal_volume

56

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

  • Inverse distribution of serum sodium and potassium in uncontrolled inpatients with diabetes mellitus.

    abstract::It has been reported that there is an inverse relationship between serum sodium (Na) and potassium (K) levels in patients with diabetic coma. The present study was undertaken to determine whether such an inverse relation depends upon plasma glucose levels in diabetic patients for their glycemic control. We examined tw...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.75

    authors: Saito T,Ishikawa S,Higashiyama M,Nakamura T,Rokkaku K,Hayashi H,Kusaka I,Nagasaka S,Saito T

    更新日期:1999-02-01 00:00:00

  • Regulation and significance of atrial and brain natriuretic peptides as cardiac hormones.

    abstract::Atrial and brain natriuretic peptides (ANP and BNP, respectively) are cardiac hormones. During cardiac development, their expression is a maker of cardiomyocyte differentiation and is under tight spatiotemporal regulation. After birth, however, their ventricular expression is only up-regulated in response to various c...

    journal_title:Endocrine journal

    pub_type: 杂志文章,评审

    doi:10.1507/endocrj.k10e-150

    authors: Kuwahara K,Nakao K

    更新日期:2010-01-01 00:00:00

  • A pedigree analysis of two homozygous mutant Gitelman syndrome cases.

    abstract::Gitelman syndrome (GS) is a salt-wasting tubulointerstitial disease of autosomal recessive inheritance (OMIM613395) caused by genic mutation of SLC12A3, which codes thiazide-sensitive Na-Cl cotransporter (NCCT) gene. The gene mutation of the majority of GS patients is compound heterozygous. This study analyzes two cas...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ14-0289

    authors: Luo J,Yang X,Liang J,Li W

    更新日期:2015-01-01 00:00:00

  • Vitamin D in Hashimoto's thyroiditis and its relationship with thyroid function and inflammatory status.

    abstract::Several studies have shown the correlation between vitamin D [25(OH)D] deficiency and thyroid autoimmunity and reducing of thyroid autoantibodies in patients with normal levels of vitamin D combining with thyroid hormone replacement. However, other authors not agree with this association. It is still unclear whether t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0166

    authors: Botelho IMB,Moura Neto A,Silva CA,Tambascia MA,Alegre SM,Zantut-Wittmann DE

    更新日期:2018-10-29 00:00:00

  • Characterization of plasma brain natriuretic peptide level in patients with type 2 diabetes.

    abstract::This study investigates whether the plasma brain natriuretic peptide (BNP) level is increased by the clinical traits of diabetes, including its complications, and whether these levels are affected by the presence of other combined diseases such as hypertension, hyperlipidemia, and coronary heart disease (CHD) in patie...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.52.353

    authors: Igarashi M,Jimbu Y,Hirata A,Tominaga M

    更新日期:2005-06-01 00:00:00

  • Comparison of glycated albumin (GA) and glycated hemoglobin (HbA1c) in type 2 diabetic patients: usefulness of GA for evaluation of short-term changes in glycemic control.

    abstract::We studied the cross-sectional relationship between GA and HbA1c in 142 type 2 diabetic patients who had an HbA1c level < 7.5% for at least one year without fluctuation by more than 0.5%. We also followed the changes of GA and HbA1c in 18 type 2 diabetic patients for 16 weeks as they progressed from untreated severe h...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k06-103

    authors: Takahashi S,Uchino H,Shimizu T,Kanazawa A,Tamura Y,Sakai K,Watada H,Hirose T,Kawamori R,Tanaka Y

    更新日期:2007-02-01 00:00:00

  • Effect of treatment with epoprostenol and endothelin receptor antagonists on the development of thyrotoxicosis in patients with pulmonary arterial hypertension.

    abstract::Thyroid disease is known to be associated with pulmonary arterial hypertension (PAH). We investigated the prevalence of thyroid disease in patients with idiopathic PAH (IPAH) or heritable PAH (HPAH), and the factors affecting the pathogenesis of thyroid disease. We retrospectively evaluated 59 patients with IPAH or HP...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ17-0155

    authors: Satoh M,Aso K,Nakayama T,Saji T

    更新日期:2017-12-28 00:00:00

  • Resveratrol exerts anti-obesity effects in high-fat diet obese mice and displays differential dosage effects on cytotoxicity, differentiation, and lipolysis in 3T3-L1 cells.

    abstract::Studies on resveratrol in a wide range of concentrations on obese mice and adipose cells are necessary to comprehend its range of diverse and contradictory effects. In this study, we examined the anti-obesity effects of resveratrol on high-fat diet (HFD)-induced obese mice at dosages ranging from 1 to 30 mg/kg treatme...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0545

    authors: Chang CC,Lin KY,Peng KY,Day YJ,Hung LM

    更新日期:2016-01-01 00:00:00

  • Intact glucagon-like peptide-1 levels are not decreased in Japanese patients with type 2 diabetes.

    abstract::Impaired secretion of glucagon-like peptide 1 (GLP-1) has been suggested to contribute to the deficient incretin effect in patients with type 2 diabetes mellitus (T2DM). Recent studies, however, have not always supported this notion. Since Japanese patients with T2DM usually have severe impairment in the earlyphase of...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k09e-269

    authors: Lee S,Yabe D,Nohtomi K,Takada M,Morita R,Seino Y,Hirano T

    更新日期:2010-01-01 00:00:00

  • Nutritional regulation of circulating insulin-like growth factors (IGFs) and their binding proteins in the ovine fetus.

    abstract::Insulin-like growth factors (IGFs) and their binding proteins (IGFBPs) are important for fetal and postnatal development, but the regulation of circulating IGFs and IGFBPs has not been as thoroughly investigated in the maternal/fetal unit as in the adult animal where nutrition status plays a regulatory role. We used t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.44.163

    authors: Lee WH,Gaylord TD,Bowsher RR,Hlaing M,Moorehead H,Liechty EA

    更新日期:1997-02-01 00:00:00

  • Association of osteoporosis susceptibility genes with bone mineral density and bone metabolism related markers in Koreans: the Chungju Metabolic Disease Cohort (CMC) study.

    abstract::In this study, we evaluated the association between bone mineral density (BMD) and 10 single-nucleotide polymorphisms (SNPs) within eight osteoporosis susceptibility genes that were previously identified in genome-wide association studies (GWASs). A total of 494 men and 493 postmenopausal women participating in the Ch...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej14-0119

    authors: Park SE,Oh KW,Lee WY,Baek KH,Yoon KH,Son HY,Lee WC,Kang MI

    更新日期:2014-01-01 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

  • Ultrasonographic features of parathyroid carcinoma.

    abstract::Although several authors have reported single cases illustrative of some ultrasonographic characteristic of parathyroid carcinoma, the value of ultrasonography for diagnosing this entity remains to be determined. The purpose of our study was to investigate the ultrasonographic features of parathyroid carcinoma in a la...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.48.213

    authors: Hara H,Igarashi A,Yano Y,Yashiro T,Ueno E,Aiyoshi Y,Ito K,Obara T

    更新日期:2001-04-01 00:00:00

  • Chimeric studies of the extracellular domain of the rat thyrotropin (TSH) receptor: amino acids (268-304) in the TSH receptor are involved in ligand high affinity binding, but not in TSH receptor-specific signal transduction.

    abstract::A series of chimeric TSH-LH/CG receptors were constructed by substituting homologous segments of the extracellular domain of the rat TSH receptor with corresponding segments of rat LH/CG receptor: C1 (amino acids 37-123 substituted), C2 (91-112), C3 (173-234), C4 (233-266), C5 (268-304), C6 (112-305) and C7 (36-404). ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.40.363

    authors: Akamizu T,Inoue D,Kosugi S,Ban T,Kohn LD,Imura H,Mori T

    更新日期:1993-06-01 00:00:00

  • Insulin secretion and insulin sensitivity on the oral glucose tolerance test (OGTT) in middle-aged Japanese.

    abstract::The aim of this study was to assess the changes in insulin secretion and insulin sensitivity in relation to fasting and 2-hour plasma glucose (PG) levels and to assess the independent contributions of their impairments to non-diabetic hyperglycemia. A total of 2157 Japanese workers (mean age 52.6±7.3 years and mean B...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej11-0157

    authors: Oka R,Yagi K,Sakurai M,Nakamura K,Moriuchi T,Miyamoto S,Nohara A,Kawashiri MA,Takeda Y,Yamagishi M

    更新日期:2012-01-01 00:00:00

  • Impact of adult growth hormone deficiency on metabolic profile and cardiovascular risk [Review].

    abstract::Adult growth hormone deficiency (GHD) is a well defined clinical condition, which is characterized by abnormal body composition, impaired physical activity and decreased quality of life. In addition, in recent years, growing interest has been shown towards cardiovascular risks in adult patients affected by GHD. In thi...

    journal_title:Endocrine journal

    pub_type: 杂志文章,评审

    doi:10.1507/endocrj.EJ15-0337

    authors: Giovannini L,Tirabassi G,Muscogiuri G,Di Somma C,Colao A,Balercia G

    更新日期:2015-01-01 00:00:00

  • Fulminant type 1 diabetes associated with Isolated ACTH deficiency induced by anti-programmed cell death 1 antibody-insight into the pathogenesis of autoimmune endocrinopathy.

    abstract::Therapeutic blocking antibodies against programmed death 1 (PD1) and cytotoxic T-lymphocyte antigen 4 (CTLA4) are applied for advanced cancer therapy, but induce a wide range of immune-related adverse events. In our recent case of a 52-year-old female doctor suffering from breast cancer having metastasized to the lung...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0328

    authors: Okahata S,Sakamoto K,Mitsumatsu T,Kondo Y,Noso S,Ikegami H,Shiba T

    更新日期:2019-04-25 00:00:00

  • A nitric oxide synthesis inhibitor prevents the ACTH-stimulated production of aldosterone in rat adrenal gland.

    abstract::The synthesis of nitric oxide (NO) has been demonstrated in the vascular endothelial cells and other tissues including in rat and bovine adrenal gland. To determine whether NO mediates aldosterone production in the adrenals, we evaluated the basal production of aldosterone, and the ACTH or angiotensin II (A II)-stimul...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.43.157

    authors: Nakayama T,Izumi Y,Soma M,Kanmatsuse K

    更新日期:1996-04-01 00:00:00

  • Cloning and characterization of the 4.2 kb region of the rat thyrotropin receptor promoter.

    abstract::We previously identified an approximately 200 bp "minimal promoter" of the rat TSH receptor (TSHR) gene which is essential for the promoter activity. In the present study, we have cloned and characterized an upstream region of the TSHR promoter to disclose additional functional element(s). We screened a rat genomic li...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.44.247

    authors: Ikuyama S,Ohe K,Takayanagi R,Kohn LD,Nawata H

    更新日期:1997-04-01 00:00:00

  • Effect of octreotide treatment on Graves' ophthalmopathy.

    abstract::In this study, nine patients with Graves' ophthalmopathy with positive clinical activity score (CAS), who were either unresponsive or not suitable for glucocorticoid treatment, were given 100 microg of octreotide three times daily, subcutaneously, for three months. The mean age was 49+/-13 years. All patients were und...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.573

    authors: Uysal AR,Corapçioğlu D,Tonyukuk VC,Güllü S,Sav H,Kamel N,Erdoğan G

    更新日期:1999-08-01 00:00:00

  • Plasma homocysteine levels in polycystic ovary syndrome and congenital adrenal hyperplasia.

    abstract::The purpose of this study was to determine whether polycystic ovary syndrome (PCOS) and nonclassic 21-hydroxylase deficiency (CAH) are related to hyperhomocysteinemia, and to investigate if there is a correlation between homocysteine levels and insulin sensitivity in women with PCOS and CAH. Fifty patients with PCOS, ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.51.601

    authors: Bayraktar F,Dereli D,Ozgen AG,Yilmaz C

    更新日期:2004-12-01 00:00:00

  • Autonomously functioning thyroid nodule associated with thyrotoxic periodic paralysis.

    abstract::Thyrotoxic periodic paralysis (TPP) is mainly associated with Graves' disease but rarely with autonomously functioning thyroid nodule (AFTN). We herein report a case of AFTN associated with TPP in which the latter resolved after (131) I therapy for the former. We analyzed the genes encoding thyrotropin receptor (TSHR)...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07e-017

    authors: Ozaki H,Mori K,Nakagawa Y,Hoshikawa S,Ito S,Yoshida K

    更新日期:2008-03-01 00:00:00

  • Thyroid function and internal carotid artery stenosis in ischemic stroke.

    abstract::Thyroid dysfunction has been known to be closely associated with increased vascular events. The aims of the present study included determining the prevalence of subclinical thyroid disease and relationships between normal ranges of thyroid function and internal carotid artery steno-occlusion (ICS) in patients with isc...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k10e-135

    authors: Jeong SK,Seo JY,Nam HS,Park HK

    更新日期:2010-01-01 00:00:00

  • Intraventricular injection of melatonin inhibits naloxone-induced, but not NMDA- or LHRH-induced LH release in ovariectomized estrogen-primed rats.

    abstract::The present study was aimed to examine the possible functional relationship between melatonin and hypothalamic transmitters, endogenous opioids and excitatory amino acids in controlling gonadotropin secretion in ovariectomized estrogen-primed rats. An intravenous injection of naloxone (mu opioid receptor antagonist), ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.831

    authors: Akema T,Ikeda T,Chiba A,Sugiyama H,Sato I,Kimura F,Toyoda J

    更新日期:1999-12-01 00:00:00

  • Low plasma corticotropin-releasing hormone (CRH) levels in patients with non-insulin dependent diabetes mellitus (NIDDM).

    abstract::Plasma CRH levels were measured in patients with non-insulin dependent diabetes mellitus (NIDDM) as the pituitary-adrenal abnormalities have been reported in NIDDM. They were also measured after oral administration of 75 g glucose to examine whether glucose increased plasma CRH along with insulin secretion. The baseli...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.40.705

    authors: Hashimoto K,Nishioka T,Takao T,Numata Y

    更新日期:1993-12-01 00:00:00

  • Stage-specific expression of estrogen receptor subtypes and estrogen responsive finger protein in preimplantational mouse embryos.

    abstract::In hope of understanding possible roles of estrogen during early embryogenesis, we examined the expression of both estrogen receptor alpha (ER alpha) and ER beta, a recently cloned novel subtype, in mouse oocytes and preimplantation embryos by means of reverse transcription polymerase chain reaction (RT-PCR). To inves...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.153

    authors: Hiroi H,Momoeda M,Inoue S,Tsuchiya F,Matsumi H,Tsutsumi O,Muramatsu M,Taketani Y

    更新日期:1999-02-01 00:00:00

  • Platelet epidermal growth factor in thyroid disorders.

    abstract::We evaluated the concentration of epidermal growth factor (EGF) in platelets, serum and plasma obtained from 47 patients with Graves' disease, 7 with hypothyroidism and 20 healthy subjects. The platelets of the subjects were collected from platelet rich plasma and lysed by freezing and thawing. Subsequently the platel...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.83

    authors: Okada M,Kamiya Y,Ito J,Yoshimata T,Kawaguchi M,Shibata H,Fujinami T

    更新日期:1998-02-01 00:00:00

  • Guanylin-Guanylyl cyclase-C signaling in macrophages regulates mesenteric fat inflammation induced by high-fat diet.

    abstract::Guanylin (Gn), a bioactive peptide, and its receptor, guanylyl cyclase-C (GC-C), are primarily present in the intestine and maintain homeostasis in body fluids. Recently, rats whose macrophages overexpress Gn and GC-C were found to be resistant to diet-induced obesity. Considering that obesity is strongly related to a...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ15-0193

    authors: Hasegawa K,Akieda-Asai S,Fujii Y,Bae CR,Yasuda M,Date Y

    更新日期:2015-01-01 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