当前位置： SCI文献检索 > JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION期刊下所有文献 > Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Abstract：

:Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the PDS gene. Most published mutation studies of Pendred syndrome have dealt with Western populations. In this study, we examined clinical and molecular characteristics of 16 affected individuals in 6 unrelated Thai families. Of all the affected, 100% (16/16) had bilateral deafness, 68.8% (11/16) goiters, and 25% (4/16) hypothyroidism. Follicular thyroid carcinoma and Hürthle cell adenoma were found in affected members of a family, raising the possibility of an increased risk of thyroid carcinoma in Pendred syndrome patients. Sequence analysis of the entire coding region of the PDS gene successfully identified all 12 mutant alleles in these 6 families. The 12 identified mutant alleles constituted 6 distinct mutations including 3 splice site mutations (IVS4-1G>A, IVS7-2A>G, IVS9- 1G>A), one frame shift mutation (1548insC) and 2 missense mutations (T67S, H723R). Eight mutations out of 12 were constituted by IVS7- 2A>G and 1548insC, each one being present in 4 distinct alleles in our studied group. The identification of these two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome in Thai populations. In addition, three newly identified mutations, T67S, IVS4-1G>A, and IVS9-1G>A, were not observed in 50 unrelated healthy Thai controls.

journal_name

J Endocrinol Invest

journal_title

Journal of endocrinological investigation

authors

Snabboon T,Plengpanich W,Saengpanich S,Sirisalipoch S,Keelawat S,Sunthornyothin S,Khovidhunkit W,Suwanwalaikorn S,Sridama V,Shotelersuk V

doi

10.1007/BF03349236

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

907-13

issue

11

eissn

0391-4097

issn

1720-8386

pii

4344

journal_volume

30

pub_type

杂志文章

相关文献

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION文献大全
  • Bilateral adrenocortical adenomas causing ACTH-independent Cushing's syndrome at different periods: a case report and discussion of corticosteroid replacement therapy following bilateral adrenalectomy.

    abstract：:We report a rare case of bilateral adrenocortical adenomas causing ACTH-independent Cushing's syndrome at different periods 9 yr apart. The subject, a 24-yr-old woman, in June 1989 had a typical Cushingoid appearance. Her baseline plasma cortisol levels did not show a diurnal rhythm and she had a very low baseline pla...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03351066

    authors： Tung SC,Wang PW,Huang TL,Lee WC,Chen WJ

    更新日期：2004-04-01 00:00:00

  • Pulmonary multinodular mucormycosis in type 1 diabetic patient with diabetic ketoacidosis.

    abstract：:We report a case of pulmonary multinodular mucormycosis in a Type 1 diabetic patient with diabetic ketoacidosis. He had a history of 20-pack-year tobacco use. The initial chest roentgenogram and thorax tomography (after the treatment of diabetic ketoacidosis) revealed multiple nodular lesions with cavitation in the up...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03347433

    authors： Kebapci N,Efe B,Alataş F,Açikalin M,Kiraz N

    更新日期：2007-03-01 00:00:00

  • The IGF-I/IGFBP-3 system in gingival crevicular fluid and dependence on application of fixed force.

    abstract：BACKGROUND:During application of orthodontic force on the tooth, various molecular parameters associated with tissue remodeling are changed. IGF-I is a regulatory protein produced during periodontal regeneration. IGF binding proteins-3 (IGFBP-3), a specific IGF-I binding protein, is the major regulatory factor of IGF-I...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03345340

    authors： Toia M,Galazzo R,Maioli C,Granata R,Scarlatti F

    更新日期：2005-12-01 00:00:00

  • The inhibitory effects of PKCθ on adiponectin expression is mediated by ERK in 3T3-L1 adipocytes.

    abstract：:The research suggests that adiponectin plays an important role in sensitizing insulin action. It is interesting to find that the lower levels of adiponectin exist in the plasma of obese and Type 2 diabetes subjects and in the adipose tissue of obese, db/db mice, and insulin-resistant individuals. However, the underlyi...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03346688

    authors： Sun S,Liu Y,Lu J,Omar A,Sun S,Bi Y,Wang C

    更新日期：2011-01-01 00:00:00

  • Fuel homeostasis and locomotor behavior: role of leptin and melanocortin pathways.

    abstract：BACKGROUND:While it is now accepted that genes and their products affect food intake, the concept that locomotor behavior or the propensity for physical activity is controlled by neuro hum oral regulators is frequently underappreciated. In mammals, complex interactions have developed to allow the cross-talk between fue...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：10.1007/s40618-014-0225-z

    authors： Ceccarini G,Maffei M,Vitti P,Santini F

    更新日期：2015-02-01 00:00:00

  • A preliminary study: proteomic analysis of exosomes derived from thyroid-stimulating hormone-stimulated HepG2 cells.

    abstract：BACKGROUND:Thyroid-stimulating hormone (TSH) plays an important role in the regulation of lipid metabolism. However, little is known about the role that exosomes play in the process of TSH-induced lipotoxicity in non-alcoholic fatty liver disease (NAFLD). As a preliminary step, the present study set out to investigate ...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/s40618-020-01210-y

    authors： Ma S,Shao S,Yang C,Yao Z,Gao L,Chen W

    更新日期：2020-09-01 00:00:00

  • Biochemical and immunohistochemical characterization of proteins in Hürthle cell carcinoma.

    abstract：:The present study reports the biochemical and immunohistochemical findings in the cytosol of a Hürthle cell carcinoma as compared with that of normal thyroid tissue. Sephadex G-200 chromatography of the extract derived from a Hürthle cell carcinoma and from normal thyroid tissue revealed three identical pools. Pool I ...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03348449

    authors： De Keyser L,Layfield L,Van Herle A,Costin A,Lewin K

    更新日期：1984-10-01 00:00:00

  • Rhythm characteristics of plasma renin, aldosterone and cortisol in five subtypes of mesor-hypertension.

    abstract：:The possible role of the renin-angiotensin system and ACTH in controlling the temporal organization of circadian rhythm of aldosterone was studied in patients with mesor-hypertension (MH) by simultaneous radioimmunological determinations of within-day changes in plasma renin, aldosterone and cortisol. Thirty-nine unco...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03348241

    authors： Cugini P,Manconi R,Serdoz R,Mancini A,Meucci T,Scavo D

    更新日期：1980-04-01 00:00:00

  • Pituitary imaging abnormalities in patients with and without hypopituitarism after traumatic brain injury.

    abstract：:Recent evidence suggests that patients with traumatic brain injury (TBI) are at substantial risk of hypopituitarism. The pathomechanisms, however, are not completely understood yet. Little is known about the association of morphological changes in the sella region with pituitary function in TBI. In this study, we asse...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03346291

    authors： Schneider HJ,Sämann PG,Schneider M,Croce CG,Corneli G,Sievers C,Ghigo E,Stalla GK,Aimaretti G

    更新日期：2007-04-01 00:00:00

  • Everything you ever wanted to know about phosphodiesterase 5 inhibitors and the heart (but never dared ask): How do they work?

    abstract：INTRODUCTION:Phosphodiesterase 5 inhibitors (PDE5i) were developed while investigating novel treatments for coronary artery disease, but their andrological side effects shifted their indication toward the management of erectile dysfunction. Although PDE5i are now also indicated for pulmonary arterial hypertension and t...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：10.1007/s40618-015-0339-y

    authors： Pofi R,Gianfrilli D,Badagliacca R,Di Dato C,Venneri MA,Giannetta E

    更新日期：2016-02-01 00:00:00

  • Antithyroid drug treatment for Graves' disease: baseline predictive models of relapse after treatment for a patient-tailored management.

    abstract：BACKGROUND:Antithyroid drugs (ATDs) are first-line treatment for Graves' hyperthyroidism worldwide, but relapses are frequent. The reliability of individual risk factors to predict at baseline subsequent relapse is poor. Predictive scores grouping single risk factors might help to select the best treatment (pharmacolog...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/s40618-018-0918-9

    authors： Masiello E,Veronesi G,Gallo D,Premoli P,Bianconi E,Rosetti S,Cusini C,Sabatino J,Ippolito S,Piantanida E,Tanda ML,Chiovato L,Wiersinga WM,Bartalena L

    更新日期：2018-12-01 00:00:00

  • Cardiac structure and functions in patients with asymptomatic primary hyperparathyroidism.

    abstract：BACKGROUND:The data about cardiovascular (CV) changes in patients with asymptomatic primary hyperparathyroidism (PHPT) are scarce. AIM:The aim of this study is to compare cardiac structure and functions in patients with asymptomatic PHPT and controls by using tissue Doppler echocardiography. SUBJECTS AND METHODS:Thir...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.3275/8961

    authors： Aktas Yılmaz B,Akyel A,Kan E,Ercin U,Tavil Y,Bilgihan A,Cakır N,Arslan M,Balos Toruner F

    更新日期：2013-11-01 00:00:00

  • Glycometabolic control in acromegalic patients with diabetes: a study of the effects of different treatments for growth hormone excess and for hyperglycemia.

    abstract：BACKGROUND:Diabetes mellitus is frequently observed in patients with acromegaly. Current therapies for acromegaly may impact glucose regulation, influencing insulin sensitivity and secretion. The question whether these therapies modify control and progression of diabetes once present is still open. AIM:Aim of our stud...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.3275/7685

    authors： Cambuli VM,Galdiero M,Mastinu M,Pigliaru F,Auriemma RS,Ciresi A,Pivonello R,Amato M,Giordano C,Mariotti S,Colao A,Baroni MG

    更新日期：2012-02-01 00:00:00

  • The SHOX gene: a new indication for GH treatment.

    abstract：:Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred i...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：

    authors： Cicognani A,Pirazzoli P,Nicoletti A,Baronio F,Conti V,Bonetti S

    更新日期：2010-06-01 00:00:00

  • Androstenedione, 17 beta-estradiol and progesterone plasma levels in gonadotropins induction of ovulation.

    abstract：:A comparison of peripheral patterns of androstenedione (A), 17 beta-estradiol (E2) and progesterone (P) is reported in ten infertile women during HMG-HCG induction of ovulation, in order to assess the site of ovarian secretion of plasma A and the possible influence on conception. Evidence for both the follicular and l...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03351016

    authors： Scirpa P,Mango D,Montemurro A,Battaglia F,Cantafio L

    更新日期：1984-08-01 00:00:00

  • Pro-gamma-MSH levels in various disorders of pituitary-adrenal axis.

    abstract：:N-Terminal (1-76) portion of proopiomelanocortin (hNT) was measured in normals, Addison's, Nelson's, Cushing's disease, and in dexamethasone suppressible hyperaldosteronism (DSH) by using a specific homologous RIA. Mean basal immunoreactive hNT level was 94.2 +/- 6 pg/ml (mean +/- SE) in normal subjects. In Cushing's ...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03348575

    authors： Boscaro M,Giacomazzi P,Sonino N,Fallo F,Girard F,Bertagna X,Mantero F

    更新日期：1990-01-01 00:00:00

  • Does a male polycystic ovarian syndrome equivalent exist?

    abstract：:The occurrence of a genetic background in the etiology of polycystic ovarian syndrome (PCOS) represents the rational basis to postulate the existence of a male PCOS equivalent. Hormonal and metabolic abnormalities have been described in male relatives of women with PCOS. These males also have a higher prevalence of ea...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：10.1007/s40618-017-0728-5

    authors： Cannarella R,Condorelli RA,Mongioì LM,La Vignera S,Calogero AE

    更新日期：2018-01-01 00:00:00

  • Characterization of novel genes in AZF regions.

    abstract：:The long arm of the Y chromosome contains genes mapped in loci involved in male infertility, short stature and gonadoblastoma. However, many of these genes have not been fully characterized, and are not currently investigated in patients affected by such diseases. We report a study aimed to the genomic characterizatio...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03343790

    authors： Stuppia L,Gatta V,Fogh I,Gaspari AR,Grande R,Morizio E,Fantasia D,Pizzuti A,Calabrese G,Palka G

    更新日期：2000-11-01 00:00:00

  • Twenty-four-hour prolactin secretory patterns in women with galactorrhea, normal menses, normal random prolacting levels and abnormal sellar tomograms.

    abstract：:During a systematic study of women with idiopathic galactorrhea, we observed several patients with normal random serum prolactin (PRL) levels and normal menses, but abnormal sellar tomograms characteristic of a pituitary adenoma. To test the hypothesis that these women might have intermittent PRL hypersecretion, we st...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03348450

    authors： Kapcala LP,Molitch ME,Arno J,King LW,Reichlin S,Wolpert SM

    更新日期：1984-10-01 00:00:00

  • Psychobiology of facial attractiveness.

    abstract：:The last decade has witnessed an upsurge of interest in the research on facial attractiveness. The development of computer graphics has allowed to objectively investigate the conserved features of attractive faces. Averageness, symmetry and sex-specific traits have been associated with attractiveness. The effect of av...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：

    authors： Cellerino A

    更新日期：2003-01-01 00:00:00

  • Actions of calcium ions and a calcium-influx blocker on basal and TRH- and GnRH-stimulated hormone release in patients with pituitary adenomas.

    abstract：:We investigated the influence of calcium ions on the secretion of anterior pituitary hormones basally and in response to exogenous hypothalamic releasing factors in 6 men with pituitary tumors. To this end, concentrations of LH, FSH, TSH, growth hormone and prolactin were measured in blood collected at 10-min interval...

    journal_title：Journal of endocrinological investigation

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1007/BF03348164

    authors： Davis M,Nassberg B,Borges JL,Iranmanesh A,Lizzaralde G,Santen RJ,Drake C,Rogol AD,Kaiser DL,Thorner MO

    更新日期：1987-10-01 00:00:00

  • Positive association of serum interleukin-1beta and CRH levels in women with pre-term labor.

    abstract：OBJECTIVE:The aim of this study was to investigate the hypothesis that interleukin-1beta (IL-1beta) might be involved in the increase of the circulating levels of placental-derived CRH leading to the initiation of pre-term labor. SUBJECTS AND METHODS:Forty-eight primigravidae with a singleton viable pregnancy between ...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03347393

    authors： Vitoratos N,Mastorakos G,Kountouris A,Papadias K,Creatsas G

    更新日期：2007-01-01 00:00:00

  • Thyroid blood flow rate in man. Electromagnetic flowmetry during operation in euthyroid normal gland, nontoxic goiter, and hyperthyroidism.

    abstract：:Human thyroid blood flow rate (TBF) was measured during operations by electromagnetic flowmetry in 75 euthyroid patients with normal thyroid tissue, nodular goiter, or solitary adenoma, and in 22 hyperthyroid patients with diffuse or nodular goiter. Blood flow rate was measured in one to four of the thyroid arteries. ...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03349454

    authors： Tegler L,Gillquist J,Anderberg B,Lundström B,Johansson H

    更新日期：1981-07-01 00:00:00

  • The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).

    abstract：:Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonado...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：10.1007/s40618-017-0627-9

    authors： Leka-Emiri S,Chrousos GP,Kanaka-Gantenbein C

    更新日期：2017-08-01 00:00:00

  • The age of patients with thyrotoxicosis factitia in Italy from 1973 to 1996.

    abstract：:Thyrotoxicosis factitia, a syndrome due to the surreptitious ingestion of excess thyroid hormones, has generally been diagnosed in young or middle-aged women with psychopathological disturbances. We reviewed all the cases seen at our Institution over a 24-yr period, from 1973 to 1996. All 25 patients were women. Analy...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03350892

    authors： Bogazzi F,Bartalena L,Scarcello G,Campomori A,Rossi G,Martino E

    更新日期：1999-02-01 00:00:00

  • Low doses of either intravenously or orally administered arginine are able to enhance growth hormone response to growth hormone releasing hormone in elderly subjects.

    abstract：:Reportedly, the responsiveness of somatotrope cells to GHRH is reduced in elderly humans but it is totally restored by arginine (ARG) which likely acts by inhibiting hypothalamic release of somatostatin. As this effect was observed after infusion of high doses of the amino acid, in this study, we compared the effect o...

    journal_title：Journal of endocrinological investigation

    pub_type： 临床试验,杂志文章

    doi：10.1007/BF03347695

    authors： Ghigo E,Ceda GP,Valcavi R,Goffi S,Zini M,Mucci M,Valenti G,Cocchi D,Müller EE,Camanni F

    更新日期：1994-02-01 00:00:00

  • Chronic stress causes neuroendocrine-immune disturbances without affecting renal vitamin D metabolism in rats.

    abstract：INTRODUCTION:Vitamin D (VD) insufficiency has been repeatedly observed in the medical conditions associated with inflammation, such as cardiovascular disease, diabetes and depression. However, contrasting to the observational evidence, randomized trials of VD supplementation failed to demonstrate such link. Given the r...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/s40618-014-0191-5

    authors： Jiang P,Zhang L,Zhu W,Li H,Dang R,Tang M

    更新日期：2014-11-01 00:00:00

  • Estriol affects prolactin and LH secretion in rats.

    abstract：:The effects of estriol on serum prolactin (PRL) and LH levels, on the pituitary response to TRH and LHRH and on the synthesis and release of PRL from the anterior pituitary gland were investigated in female rats. The increase of serum PRL levels after estradiol administration was found to be associated with an increas...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03349902

    authors： Diaz MC,Seilicovich A,Duvilanski BH,Siseles N,Lasaga M,Debeljuk L

    更新日期：1989-01-01 00:00:00

  • Metabolic impact of body fat distribution.

    abstract：:Many studies have shown that fat distribution influences metabolism independently of the effects of total body fat stores. The accumulation of fat in the abdominal area, particularly in the visceral fat compartment, seems to be associated with an increased risk to display complications such as insulin resistance, diab...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章,评审

    doi：10.1007/BF03344051

    authors： Gasteyger C,Tremblay A

    更新日期：2002-11-01 00:00:00

  • Prolactin bioassay and hyperprolactinemia.

    abstract：:The Nb2 rat lymphoma bioassay (BA) for prolactin (PRL) was performed in 26 subjects with hyperprolactinemia, 17 of whom had radiologic evidence of a pituitary adenoma. All subjects were treated with the long acting dopamine agonist CV 205-502. The radioimmunoassay (RIA) PRL significantly decreased with treatment but t...

    journal_title：Journal of endocrinological investigation

    pub_type： 杂志文章

    doi：10.1007/BF03348787

    authors： Peabody CA,Schultz PN,Warner MD,Worsley IG,Friesen HG,Samaan NA

    更新日期：1992-07-01 00:00:00