当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

Abstract：

:Multiple endocrine neoplasia type 1 (MEN 1) is a familial syndrome characterized by parathyroid, enteropancreatic and pituitary tumors. The gene responsible for this syndrome is localized at chromosomal 11q13 region and DNA markers from this region cosegregate with the disease. The recent identification of the MEN1 gene, encoding for a protein termed menin of 610 amino acids, allowed mutational screening to be performed both in affected families and sporadic cases. To date many different heterozygous mutations, spreading across all the encoding sequence, have been identified in MEN 1 patients with no apparent mutational hot spots or genotype-phenotype correlation. To analyze the genetic alterations of the MEN1 gene occurring in Italian patients we performed mutational screening by Denaturant Gradient Gel Electrophoresis followed by sequencing of exons 2-10 of the MEN1 gene in 27 Italian MEN 1 families and in five sporadic cases. We identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve of these mutations are novel. Two mutations each occurred twice in unrelated families but no evidence of genotype-phenotype correlation can be established for these families. The extension of genetic diagnosis to asymptomatic family members allowed the identification of 10 MEN1 mutant gene carriers, one newly described and nine previously detected by linkage analysis with DNA markers from the 11q13 region. Our findings add new information to the diversity of mutations occurring in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful approach to detect individuals at higher risk of developing MEN 1-associated tumors.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Morelli A,Falchetti A,Martineti V,Becherini L,Mark M,Friedman E,Brandi ML

doi

10.1530/eje.0.1420131

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

131-7

issue

2

eissn

0804-4643

issn

1479-683X

pii

1420131

journal_volume

142

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF ENDOCRINOLOGY文献大全
  • The role of sex steroids in the regulation of insulin sensitivity and serum lipid concentrations during male puberty: a prospective study with a P450-aromatase inhibitor.

    abstract：OBJECTIVE:Our purpose was to study the sex steroid-mediated changes in serum insulin and lipid concentrations in boys during puberty. DESIGN AND METHODS:We treated boys with constitutional delay of puberty either with testosterone plus placebo or with testosterone plus an aromatase inhibitor, letrozole, which inhibits...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1530/eje.0.1460339

    authors： Wickman S,Saukkonen T,Dunkel L

    更新日期：2002-03-01 00:00:00

  • Impaired quality of life and sexual function in overweight and obese men: the European Male Ageing Study.

    abstract：BACKGROUND:Few published data link overweight and obesity with measures of quality of life (QoL) including sexual health in men. OBJECTIVE:To assess the association of overweight/obesity with impairment of physical and psychological QoL and sexual functions in men. DESIGN AND SETTING:Cross-sectional, multicentre surv...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-10-1129

    authors： Han TS,Tajar A,O'Neill TW,Jiang M,Bartfai G,Boonen S,Casanueva F,Finn JD,Forti G,Giwercman A,Huhtaniemi IT,Kula K,Pendleton N,Punab M,Silman AJ,Vanderschueren D,Lean ME,Wu FC,EMAS group.

    更新日期：2011-06-01 00:00:00

  • Central ghrelin production does not substantially contribute to systemic ghrelin concentrations: a study in two subjects with active acromegaly.

    abstract：INTRODUCTION:In an animal model of acromegaly (PEPCK-hGH transgenic mice), low systemic levels of ghrelin have been observed compared with normal mice. We hypothesized that systemic circulating ghrelin levels are also decreased in humans with active acromegaly and that the contribution of central ghrelin production to ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1470195

    authors： van der Toorn FM,Janssen JA,de Herder WW,Broglio F,Ghigo E,van der Lely AJ

    更新日期：2002-08-01 00:00:00

  • Single nucleotide polymorphisms in the intergenic region between metformin transporter OCT2 and OCT3 coding genes are associated with short-term response to metformin monotherapy in type 2 diabetes mellitus patients.

    abstract：OBJECTIVES:High variability in clinical response to metformin is often observed in type 2 diabetes (T2D) patients, and it highlights the need for identification of genetic components affecting the efficiency of metformin therapy. Aim of this observational study is to evaluate the role of tagSNPs (tagging single nucleot...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-16-0347

    authors： Zaharenko L,Kalnina I,Geldnere K,Konrade I,Grinberga S,Židzik J,Javorský M,Lejnieks A,Nikitina-Zake L,Fridmanis D,Peculis R,Radovica-Spalvina I,Hartmane D,Pugovics O,Tkáč I,Klimčáková L,Pīrāgs V,Klovins J

    更新日期：2016-12-01 00:00:00

  • Partial visual recovery from radiation-induced optic neuropathy after hyperbaric oxygen therapy in a patient with Cushing disease.

    abstract：:Here we describe the case of a 41-year-old woman with a history of Cushing disease who had previously undergone unsuccessful neurosurgery, followed by stereotactic radiosurgery. More than 4 years after this treatment, she presented severe visual impairment, which started in the left eye and was documented by neuro-oph...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02161

    authors： Boschetti M,De Lucchi M,Giusti M,Spena C,Corallo G,Goglia U,Ceresola E,Resmini E,Vera L,Minuto F,Ferone D

    更新日期：2006-06-01 00:00:00

  • Quantitave and qualitative changes in vascular endothelial growth factor gene expression in glomeruli of patients with type 2 diabetes.

    abstract：OBJECTIVE:Vascular endothelial growth factor (VEGF) exists in three main splice variants, characterized by 121, 165 and 189 amino acids (VEGF 121, VEGF 165 and VEGF 189) and acts via two specific receptors: VEGF-R1 or Flt-1 and VEGF-R2 or KDR. VEGF plays an important role in the pathogenesis of diabetic retinopathy. Th...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1500799

    authors： Bortoloso E,Del Prete D,Dalla Vestra M,Gambaro G,Saller A,Antonucci F,Baggio B,Anglani F,Fioretto P

    更新日期：2004-06-01 00:00:00

  • In Reply: The MELAS phenotype may not only be determined by heteroplasmy of causative mtDNA variants.

    abstract：:none. ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-20-1426

    authors： Chae HW,Lee YM

    更新日期：2021-01-01 00:00:00

  • Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

    abstract：BACKGROUND:A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients. SUBJECTS AND METHODS:The GHSR...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0168

    authors： Pugliese-Pires PN,Fortin JP,Arthur T,Latronico AC,Mendonca BB,Villares SM,Arnhold IJ,Kopin AS,Jorge AA

    更新日期：2011-08-01 00:00:00

  • Evidence for a role for insulin-like growth factor binding proteins in glucocorticoid inhibition of normal human osteoblast-like cell proliferation.

    abstract：:Glucocorticoids (GCs) inhibit bone formation in vivo and inhibit osteoblast proliferation and collagen synthesis in vitro. These effects may be mediated by alterations in the insulin-like growth factor (IGF) system. In the present study of normal human osteoblast-like (HOB) cells, we tested the hypothesis that dexamet...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1340591

    authors： Chevalley T,Strong DD,Mohan S,Baylink D,Linkhart TA

    更新日期：1996-05-01 00:00:00

  • Effect of amiodarone and dronedarone administration in rats on thyroid hormone-dependent gene expression in different cardiac components.

    abstract：OBJECTIVE:In view of their different actions on thyroid hormone receptor (TR) isoforms we set out to investigate whether amiodarone (AM) and dronedarone (Dron) have different and/or component-specific effects on cardiac gene expression. DESIGN:Rats were treated with AM or Dron and the expression of TRalpha 1, TRalpha ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0017

    authors： Stoykov I,van Beeren HC,Moorman AF,Christoffels VM,Wiersinga WM,Bakker O

    更新日期：2007-06-01 00:00:00

  • Diabetes care in pediatric refugees from Africa or Middle East: experiences from Germany and Austria based on real-world data from the DPV registry.

    abstract：Objective:With increasing migration to Europe, diabetes diagnosis and treatment of refugees became challenging. To describe the current experience with pediatric refugees in Germany and Austria. Design and Methods:43,137 patients (<21 years) with type 1 diabetes from the diabetes patient follow-up registry (DPV) were ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-18-0898

    authors： Prinz N,Konrad K,Brack C,Hahn E,Herbst A,Icks A,Grulich-Henn J,Jorch N,Kastendieck C,Mönkemöller K,Razum O,Steigleder-Schweiger C,Witsch M,Holl RW

    更新日期：2019-07-01 00:00:00

  • Combined pyridostigmine-thyrotrophin-releasing hormone test for the evaluation of hypothalamic somatostatinergic activity in healthy normal men.

    abstract：:Pyridostigmine (PST), a cholinesterase inhibitor, induces a clear growth hormone (GH) release in man by suppression of hypothalamic somatostatin (SRIH). Somatostatin suppresses thyrotrophin (TSH) release in rats and men. Earlier studies showed that the thryotrophin-releasing hormone (TRH)-induced TSH response was not ...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1530/eje.0.1330457

    authors： Yang I,Woo J,Kim S,Kim J,Kim Y,Choi Y

    更新日期：1995-10-01 00:00:00

  • Genetic variation in receptor protein tyrosine phosphatase sigma is associated with type 2 diabetes in Swedish Caucasians.

    abstract：OBJECTIVE:Previously, it has been demonstrated that receptor protein tyrosine phosphatase sigma (RPTPsigma) is involved in glucose homeostasis and insulin signaling in several animal models. The aim of this study was to evaluate whether polymorphisms in this gene influence the development of type 2 diabetes (T2D) in hu...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0114

    authors： Långberg EC,Gu HF,Nordman S,Efendic S,Ostenson CG

    更新日期：2007-10-01 00:00:00

  • Estrogen responsiveness of bone formation in vitro and altered bone phenotype in aged estrogen receptor-alpha-deficient male and female mice.

    abstract：OBJECTIVE:Although the beneficial effects of estrogen on bone are well known, the roles of estrogen receptors (ERs) in mediating these effects are not fully understood. METHODS:To study the effects of long-term ER alpha deficiency, bone phenotype was studied in aged ER alpha knockout (ERKO) mice. In addition, ERKO ost...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01832

    authors： Parikka V,Peng Z,Hentunen T,Risteli J,Elo T,Väänänen HK,Härkönen P

    更新日期：2005-02-01 00:00:00

  • Pregnancy and pituitary disorders.

    abstract：:Major hormonal changes emerge during pregnancy. The pituitary gland is one of the most affected organs with altered anatomy and physiology. The pituitary gland is enlarged as a result of lactotroph hyperplasia. Due to physiological changes in the pituitary and target hormone levels, binding globulins, and placental ho...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0923

    authors： Karaca Z,Tanriverdi F,Unluhizarci K,Kelestimur F

    更新日期：2010-03-01 00:00:00

  • Very short term dehydroepiandrosterone treatment in female adrenal failure: impact on carbohydrate, lipid and protein metabolism.

    abstract：OBJECTIVE:In female adrenal insufficiency, dehydroepiandrosterone (DHEA) secretion is impaired and circulating androgen levels are severely reduced. We wanted to analyse the acute effects of physiological DHEA substitution on substrate metabolism. DESIGN:We studied nine females with adrenal insufficiency after 9 days ...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1530/eje.1.01810

    authors： Christiansen JJ,Gravholt CH,Fisker S,Møller N,Andersen M,Svenstrup B,Bennett P,Ivarsen P,Christiansen JS,Jørgensen JO

    更新日期：2005-01-01 00:00:00

  • Thyroid nodules: a review of current guidelines, practices, and prospects.

    abstract：:In 2006, two major society-sponsored guidelines and one major consensus statement for thyroid diagnosis and management were published by: the American Association of Clinical Endocrinologists/Associazione Medici Endocrinologi (AACE/AME); the American Thyroid Association (ATA); and the European Thyroid Association (ETA...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-08-0135

    authors： Gharib H,Papini E,Paschke R

    更新日期：2008-11-01 00:00:00

  • Diagnostic and prognostic value of immunocytochemistry and BRAF mutation analysis on liquid-based biopsies of thyroid neoplasms suspicious for carcinoma.

    abstract：OBJECTIVE:In the field of fine-needle aspiration cytology, the category of suspicious for malignancy (SM) thyroid lesions, that bears 55-85% risk of malignant histology, is a challenging topic in which morphology alone is not always able to make a correct diagnosis. Recently, immunocytochemistry (ICC) has been referred...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-13-0023

    authors： Rossi ED,Martini M,Capodimonti S,Straccia P,Cenci T,Lombardi CP,Pontecorvi A,Larocca LM,Fadda G

    更新日期：2013-05-02 00:00:00

  • MANAGEMENT OF ENDOCRINE DISEASE: Rituximab therapy for Graves' orbitopathy - lessons from randomized control trials.

    abstract：:Rituximab (RTX) use in open-label series has been associated with very encouraging responses in patients with active and moderate-to-severe Graves' orbitopathy (GO). Recently, randomized controlled trials of RTX have been performed in such patients to answer the question of clinical efficacy and the safety profile of ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-16-0552

    authors： Stan MN,Salvi M

    更新日期：2017-02-01 00:00:00

  • Resistin promotes 3T3-L1 preadipocyte differentiation.

    abstract：OBJECTIVE:To investigate the relationship between resistin (a potential link between obesity and type 2 diabetes) and preadipocyte differentiation. DESIGN:A rat resistin expression vector was transfected into 3T3-L1 preadipocytes and differentiation was compared between normal 3T3-L1 cells, rat resistin-transfected ce...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1500885

    authors： Gong H,Ni Y,Guo X,Fei L,Pan X,Guo M,Chen R

    更新日期：2004-06-01 00:00:00

  • Herpesvirus type 7 infection may play an important role in individuals with a genetic profile of susceptibility to Graves' disease.

    abstract：OBJECTIVE:An inherited profile of genes related to the response to aggressive environmental factors such as viruses and chemicals may be related to an increased susceptibility to Graves' disease (GD). DESIGN AND METHODS:This prospective case-control study was designed to examine the relationship between human herpesvi...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0719

    authors： Leite JL,Bufalo NE,Santos RB,Romaldini JH,Ward LS

    更新日期：2010-02-01 00:00:00

  • A perspective on stem cells by a clinician.

    abstract：:Stem cell terminology has entered the lexicon of medical practitioners even though the application of harvesting stem cells to treat diseases other than haematological disorders is not yet a reality in clinical practice. All branches of medicine will be affected by the new technology, more so those related to regenera...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.151u003

    authors： Hughes IA

    更新日期：2004-11-01 00:00:00

  • The impact of chronic in vivo glucocorticoid excess on the functional characteristics of human skin fibroblasts obtained from patients with endogenous Cushing's syndrome.

    abstract：OBJECTIVE:Chronic exposure to elevated glucocorticoid (GC) concentrations induces detrimental effects in several tissues. In the skin, GCs provoke intense alterations on various parameters of the physiology of fibroblasts, cumulatively leading to skin atrophy and impaired wound healing. As there are concerns that GCs m...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01913

    authors： Zervolea I,Pratsinis H,Tsagarakis S,Karavitaki N,Stathakos D,Thalassinos N,Kletsas D

    更新日期：2005-06-01 00:00:00

  • Giant prolactinomas in women.

    abstract：OBJECTIVE:To characterise distinctive clinical features of giant prolactinomas in women. DESIGN:A multicentre, retrospective case series and literature review. METHODS:We collected data from 15 female patients with a pituitary tumour larger than 4 cm and prolactin levels above 1000 μg/l and identified 19 similar case...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,多中心研究,评审

    doi：10.1530/EJE-13-0503

    authors： Delgrange E,Raverot G,Bex M,Burman P,Decoudier B,Devuyst F,Feldt-Rasmussen U,Andersen M,Maiter D

    更新日期：2013-11-22 00:00:00

  • MANAGEMENT OF ENDOCRINE DISEASE: Growth and growth hormone therapy in short children born preterm.

    abstract：:Approximately 15 million babies are born preterm across the world every year, with less than 37 completed weeks of gestation. Survival rates increased during the last decades with the improvement of neonatal care. With premature birth, babies are deprived of the intense intrauterine growth phase, and postnatal growth ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-16-0482

    authors： Boguszewski MCDS,Cardoso-Demartini AA

    更新日期：2017-03-01 00:00:00

  • Infrequent mutations of p16INK4A and p15INK4B genes in human pituitary adenomas.

    abstract：:The p16INK4A and p15INK4B genes on chromosome 9p21 encode the p16 and p15 inhibitors of cyclin D/cyclin-dependent kinase 4 complexes respectively. Mutations and deletions of the p16INK4A gene have been found in melanomas and many other types of tumors. To assess the role of the p16INK4A and p15NK4B genes in tumorigene...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1360074

    authors： Yoshimoto K,Tanaka C,Yamada S,Kimura T,Iwahana H,Sano T,Itakura M

    更新日期：1997-01-01 00:00:00

  • Influence of gender, age and renal function on plasma adiponectin level: the Tanno and Sobetsu study.

    abstract：DESIGN:The aim of this study was to determine the association between aging and adiponectin level from the aspect of the influence of renal function and sex hormones in humans. METHODS:Serum adiponectin and blood urea nitrogen (BUN) levels were measured in 964 subjects (372 males) aged 60.3+/-12.5 years. Testosterone ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01930

    authors： Isobe T,Saitoh S,Takagi S,Takeuchi H,Chiba Y,Katoh N,Shimamoto K

    更新日期：2005-07-01 00:00:00

  • Sympatho-vagal control of heart rate variability in patients treated with suppressive doses of L-thyroxine for thyroid cancer.

    abstract：OBJECTIVE:This study aimed to analyze the autonomic control of heart rate variability (HRV) in subjects receiving chronic l-thyroxine (l-T4) treatment after total thyroidectomy and (131)I therapy for differentiated thyroid carcinoma. METHODS:Blood pressure (BP) and sympatho-vagal activity (evaluated by power spectral ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.01918

    authors： Casu M,Cappi C,Patrone V,Repetto E,Giusti M,Minuto F,Murialdo G

    更新日期：2005-06-01 00:00:00

  • Serum leptin and C-reactive protein levels in the physiological spontaneous menstrual cycle in reproductive age women.

    abstract：OBJECTIVE:Only a few studies have investigated variations of different markers for inflammatory processes during the physiological menstrual cycle. The results are conflicting, particularly concerning the correlation between the marker leptin and steroid hormones. The aim of the study was to investigate the inflammator...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02178

    authors： Wunder DM,Yared M,Bersinger NA,Widmer D,Kretschmer R,Birkhäuser MH

    更新日期：2006-07-01 00:00:00

  • Coadministration of lanreotide Autogel and pegvisomant normalizes IGF1 levels and is well tolerated in patients with acromegaly partially controlled by somatostatin analogs alone.

    abstract：OBJECTIVE:To evaluate the efficacy and safety of coadministered lanreotide Autogel (LA; 120  mg/month) and pegvisomant (40-120  mg/week) in acromegaly. DESIGN:This is a 28-week, multicenter, open-label, single-arm sequential study. METHODS:Patients (n=92) biochemically uncontrolled, on somatostatin analogs (SSAs) or ...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/EJE-10-0867

    authors： van der Lely AJ,Bernabeu I,Cap J,Caron P,Colao A,Marek J,Neggers S,Birman P

    更新日期：2011-03-01 00:00:00