A5055934850- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- Pituitary Gland Disorders and Treatments
- Hormonal Regulation and Hypertension
- Renin-Angiotensin System Studies
- Adipose Tissue and Metabolism
- Receptor Mechanisms and Signaling
- Blood Pressure and Hypertension Studies
- Cardiac tumors and thrombi
- RNA Research and Splicing
- Medicinal plant effects and applications
- Colorectal Cancer Treatments and Studies
- Non-Invasive Vital Sign Monitoring
- Heart Rate Variability and Autonomic Control
- RNA Interference and Gene Delivery
- Hemodynamic Monitoring and Therapy
- RNA and protein synthesis mechanisms
- Sodium Intake and Health
- Thyroid and Parathyroid Surgery
- Cardiovascular Health and Disease Prevention
- Neuroendocrine Tumor Research Advances
- Advanced Proteomics Techniques and Applications
- Thyroid Cancer Diagnosis and Treatment
- Lung Cancer Research Studies
- BRCA gene mutations in cancer
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2010-2024
University of Brescia
2000-2024
Assistance Publique – Hôpitaux de Paris
2000-2012
Inserm
2000-2012
Université Paris Cité
2012
Centre National de la Recherche Scientifique
2012
Sorbonne Université
2012
Hôpital Européen Georges-Pompidou
2012
Paris Cardiovascular Research Center
2012
Medicina
2009
Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How contribute PCC/PGL associated phenotypes remain unclear. This study aimed examine the prevalence phenotypic features of somatic PCC/PGL.We sequenced 1,694 patients with PCC or PGL (without other major genes) from 17...
The aim of the study was to define frequency hereditary forms and genotype/phenotype correlations in a large cohort Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.We examined 501 consecutive paragangliomas (secreting nonsecreting). Complete medical family histories, as well results clinical, laboratory, imaging studies, were recorded database. Patients divided into different groups according their history, presence lesions outside...
<h3>Context</h3> Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest–derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene<i>FP/TMEM127</i>in familial sporadic pheochromocytomas consistent with a tumor suppressor effect. <h3>Objectives</h3> To examine prevalence spectrum of<i>FP/TMEM127</i>mutations in to test effect vitro. <h3>Design, Setting, Participants</h3> sequenced the<i>FP/TMEM127</i>gene 990 individuals...
Previous studies suggest that variants of the β 2 -adrenergic receptor (ADRB2) may differently affect functional responses to adrenergic stimulation, thereby possibly modulating cardiovascular and metabolic phenotypes. We examined hypothesis G/R16 Q/E27 polymorphism ADRB2, or their haplotypes, modulate blood pressure, structure, function risk factors in general population. a random sample population (n=571; age, 35 64 years). Neither clinic nor 24-hour ambulatory pressure was significantly...
Abstract: To assess the prevalence of genetic mutations in nonsyndromic pheochromocytoma/paraganglioma (PHEO/PGL) patients we have performed a systematic search for succinate dehydrogenase (SDH) B, C, and D subunits, von Hippel–Lindau (VHL), RET genes by direct bidirectional sequencing. Patients were selected from medical records hypertension centers. After exclusion syndromic patients, 45 with familial (F+, n = 3) sporadic (F−, 42) cases isolated PHEO/PGL considered. They included 35 PHEO,...
The aldosterone response to infused angiotensin II (Ang II) in patients receiving a low-salt diet has been described as an important phenotype for genetic studies on human hypertension. objectives of the present study were determine parameters that influence this intermediate quantitative trait and assess importance its familial resemblance hypertensive sibling pairs. Two hundred one white subjects (95 families: 84 pairs 11 trios) selected 3 centers. followed same protocol, which included...
To perform genetic screening for ARMC5 gene germline pathogenic variants in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH).In a group of 10 PBMAH patients, we performed complete sequencing the coding region and MLPA analysis large deletion detection. In subjects variant, searched somatic on tumor samples.Among identified four (40%). One c:174dupC p.Glu59Argfs*44, was already known; one variant p.Gly323Asp, reported classified as likely disease-causing VUS (class...
Applying genetic screening in medullary thyroid cancer (MTC) patients we identified an unexpectedly high frequency of c.2671T>G, p.Ser891Ala RET mutation carriers. Our aim was to: (a) deeply characterize the clinical expression this mutation, (b) identify presence a founder effect our region. Genetic analysis performed 251 relatives from 28 Ser891Ala kindreds, among 108 asymptomatic carriers, 64 were submitted to thyroidectomy: mean age for 10 subjects presenting C-cells hyperplasia 30.2 ±...
Three hundred eight outpatients referred for hypertension were studied. A continuous beat-to-beat noninvasive recording (Finapres) of blood pressure evaluated the increase (9 mm Hg systolic and 4 diastolic) induced by office sphygmomanometry. Thereafter, patients underwent a 24-h ambulatory monitoring. The evaluation against Finapres showed that sphygmomanometry overestimates 3 ± 36 (mean 2 SD) diastolic 15 25 SD). Blood monitoring similar discrepancies. On basis both (normalcy defined from...
The Vobarno Study represents the first observational study aimed to assess in a general population sample relationship between parameters of cardiac and vascular structure (and function) blood pressure values, measured clinic during 24 hours. In frame samples for hematochemistry DNA extraction, 24-hour measurements, carotid ultrasound, aortic stiffness were all subjects, living small town (Vobarno) Brescia Garda Lake (Italy), randomly selected from electoral roles. this an extensive...
Castellano, M.; Rossi, F.; Rivadossi, Perani, C.; Giacché, Muìesan, M. L.; Beschi, Rizzoni, D.; Rosel, E. Agabiti Author Information
Giacche, M.; Mori, L.; Tacchetti, M. C.; Panarotto, A.; Daffini, Cappelli, Agabiti Rosei, E.; Castellano, Author Information
<p>PDF file, 794KB, Supplementary figure S1. Gross MAX deletion analysis S2. Immunohistochemical assessment. S3. Pedigree of 3 families with affected relatives in more than one generation.</p>
<p>PDF file, 794KB, Supplementary figure S1. Gross MAX deletion analysis S2. Immunohistochemical assessment. S3. Pedigree of 3 families with affected relatives in more than one generation.</p>
<div>Abstract<p><b>Purpose:</b> Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, <i>MAX</i> (MYC-associated factor X), which predisposes carriers to PCC. How contribute PCC/PGL associated phenotypes remain unclear. This study aimed examine the prevalence phenotypic features of somatic...