A5031102152- Pituitary Gland Disorders and Treatments
- Neuroendocrine Tumor Research Advances
- RNA Interference and Gene Delivery
- Cystic Fibrosis Research Advances
- Advanced biosensing and bioanalysis techniques
- Metabolism, Diabetes, and Cancer
- Regulation of Appetite and Obesity
- Adipose Tissue and Metabolism
- Congenital Ear and Nasal Anomalies
- Adrenal and Paraganglionic Tumors
- Cancer-related Molecular Pathways
- Cancer, Hypoxia, and Metabolism
- Neuroblastoma Research and Treatments
- Pancreatic function and diabetes
- RNA Research and Splicing
- Nutrition, Genetics, and Disease
- Chemokine receptors and signaling
- MicroRNA in disease regulation
- Biochemical effects in animals
- demographic modeling and climate adaptation
- PI3K/AKT/mTOR signaling in cancer
- Health, Environment, Cognitive Aging
- RNA and protein synthesis mechanisms
- Digestive system and related health
- TGF-β signaling in diseases
University of Lisbon
2013-2020
Genomics (United Kingdom)
2016
Queen Mary University of London
2008-2013
Molina Center for Energy and the Environment
2008
Context: Mutations have been identified in the aryl hydrocarbon receptor-interacting protein (AIP) gene familial isolated pituitary adenomas (FIPA). It is not clear, however, how this molecular chaperone involved tumorigenesis. Objective: AIP sequence changes and expression were studied FIPA sporadic adenomas. The function of normal mutated molecules was on cell proliferation protein-protein interaction. Cellular ultrastructural localization determined cells. Patients: Twenty-six kindreds 85...
Familial isolated pituitary adenoma (FIPA) is an autosomal dominant condition with variable genetic background and incomplete penetrance. Germline mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene have been reported in 15–40% FIPA patients. Limited data are available on functional consequences or regarding regulation AIP gene. We describe a large cohort families characterize missense silent using minigene constructs, luciferase β-galactosidase assays, as well silico...
Chronic exposure to glucocorticoid hormones, resulting from either drug treatment or Cushing's syndrome, results in insulin resistance, central obesity, and symptoms similar the metabolic syndrome. We hypothesized that major effects of corticosteroids are mediated by changes key enzyme adenosine monophosphate-activated protein kinase (AMPK) activity. Activation AMPK is known stimulate appetite hypothalamus catabolic processes periphery. assessed activity expression several enzymes...
Raf/MEK/ERK and phosphatidylinositol 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) cascades are key signalling pathways interacting with each other to regulate cell growth tumourigenesis. We have previously shown B-Raf Akt overexpression and/or overactivation in pituitary adenomas. The aim this study is assess the expression their downstream components (MEK1/2, ERK1/2, mTOR, TSC2, p70S6K) effectors (c-MYC CYCLIN D1). studied tissue from 16 non-functioning adenomas (NFPAs), six...
Somatotroph adenomas harboring aryl hydrocarbon receptor interacting protein (AIP) mutations respond less well to somatostatin analogs, suggesting that the effects of analogs may be mediated by AIP. The objective investigation was study involvement AIP in mechanism effect analogs. In human study, a 16-wk analog pretreatment compared with no pretreatment. vitro cell line treatment or small interfering RNA (siRNA)/plasmid transfection were studied. conducted at university hospital. Thirty-nine...
Abnormal microRNA (miRNA) expression profiles have recently been associated with sporadic pituitary adenomas, suggesting that miRNAs can contribute to tumor formation; are small noncoding RNAs inhibit posttranscriptional of target mRNAs by binding sequences usually located in the 3'-UTR. In this study, we investigated role played miR-107, a miRNA different human cancers, adenomas and its interaction suppressor gene aryl hydrocarbon receptor-interacting protein (AIP). miR-107 was evaluated...
Cystic fibrosis (CF), the most common life-threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre-mRNA splicing for which novel therapies have been somewhat neglected. We previously described effect CFTR mutation c.2657+5G>A IVS16, showing that it originates transcripts lacking exon 16 as well wild-type transcripts. Here, we tested an RNA-based antisense...
Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10-20% of patients with do not have a detectable mutation. A rat strain tumours, phenotypic overlap both and MEN2, has been reported homozygous germline p27 (CDKN1B) Recently, two mutation-negative syndrome identified harbour CDKN1B The recently AIP can also cause familial isolated pituitary adenoma, but no other specific tumour is associated this syndrome. objective study...
Even with advent of next generation sequencing complete large disease-associated genes and intronic regions is economically not feasible. This the case cystic fibrosis transmembrane conductance regulator (CFTR), gene responsible for (CF). Yet, to confirm a CF diagnosis, proof CFTR dysfunction needs be obtained, namely by identification two disease-causing mutations. Moreover, mutation-based therapies, genotyping an essential tool disease management. There is, however, still unmet need...
5' adenosine monophosphate-activated protein kinase (AMPK) plays a prominent role as metabolic stress sensor. The of hypothalamic AMPK in response to restraint and surgical has not been previously investigated. It recently suggested that the renin-angiotensin system, addition its regulation, may play significant regulating pathways including regulation system. This study was thus aimed evaluate effects candesartan, an angiotensin II AT1 receptor blocker drug, on activity under basal...
In cystic fibrosis (CF), the correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. this study, we focused on 10 common mutations/variants 711+3A>G/C, 711+5G>A, TG13T3, TG13T5, TG12T5, 1863C>T, 1898+3A>G, 2789+5G>A, and 3120G>A that induce skipping corresponding exons 5, 10, 13, 16, 18. To rescue tested, in a minigene assay, panel modified U1 small nuclear RNAs (snRNAs), named Exon Specific U1s (ExSpeU1s), was engineered bind intronic...
adenosine monophosphate-activated protein kinase (AMPK) plays a prominent role as metabolic stress sensor, and it has recently been suggested that the renin-angiotensin system, in addition to its regulation, may play significant regulating AMPK system. This study aimed evaluate effects of candesartan, an angiotensin II receptor blocker, on cardiac hepatic activity basally well after surgical under general anesthesia.Male Wistar rats were treated with 5 mg/kg/day candesartan their drinking...
In Cystic Fibrosis (CF), correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. this study, we focused on ten common mutations/variants, 711+3A>G/C, 711+5G>A, 1863C>T, 1898+3A>G, 2789+5G>A, TG13T3, TG13T5, TG12T5 and 3120G>A that induce skipping the corresponding exons 5, 9, 13, 16 18. To rescue tested, in a minigene assay, panel modified U1 snRNAs, named Exon Specific U1s (ExSpeU1) were engineered bind intronic sequences downstream...