-
Article
Circulating non-coding RNA biomarkers of endocrine tumours
Circulating non-coding RNA (ncRNA) molecules are being investigated as biomarkers of malignancy, prognosis and follow-up in several neoplasms, including endocrine tumours of the pituitary, parathyroid, pancrea...
-
Article
Open AccessPublisher Correction: Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
-
Article
Open AccessWhole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often mi...
-
Article
Open AccessChallenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre
TP53 variant interpretation is still challenging, especially in patients with attenuated Li–Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic (P/LP) variants and LFS disease ...
-
Article
Open AccessMechanisms behind context-dependent role of glucocorticoids in breast cancer progression
Glucocorticoids (GCs), mostly dexamethasone (dex), are routinely administered as adjuvant therapy to manage side effects in breast cancer. However, recently, it has been revealed that dex triggers different ef...
-
Article
Open AccessCombined effect of pancreatic lipid content and gene variants (TCF7L2, WFS1 and 11BHSD1) on B-cell function in Middle Aged Women in a Post Hoc Analysis
TCF7L2 rs7903146 and PNPLA3 rs738409 gene variants confer the strongest risk for type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease (NAFLD), respectively. Pancreatic triacylglycerol content (P...
-
Article
Open AccessMolecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
Although current guidelines prefer the use of targeted testing or small-scale gene panels for identification of genetic susceptibility of hereditary endocrine tumour syndromes, next generation sequencing based...
-
Article
Open AccessMolecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice
Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to complex phenotypes due to gonadotropin-releasi...
-
Article
Open AccessThe importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development
Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a cl...
-
Article
Open AccessDifferentially Expressed miRNAs Influence Metabolic Processes in Pituitary Oncocytoma
Spindle cell oncocytomas (SCO) of the pituitary are rare tumors accounting for 0.1–0.4% of all sellar tumors. Due to their rarity, little information is available regarding their pathogenesis. Our aim was to i...
-
Article
Open AccessNovel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the d...
-
Article
Open AccessTrue MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome
Multiple endocrine neoplasia type 1 is a rare tumor syndrome caused by germline mutations of MEN1 gene. Phenotype varies widely, and no definitive correlation with the genotype has been observed. Mutation-negativ...
-
Article
Open AccessPolymorphisms of human glucocorticoid receptor gene in systemic lupus erythematosus: a single-centre result
SLE is a systemic autoimmune disorder with multiple organ manifestations. Despite of the innovations glucocorticoids (GC) have still remained the first-line therapy in SLE. Besides HSD11B enzymes, intracellula...
-
Article
Expression of GLP-1 receptors in insulin-containing interneurons of rat cerebral cortex
Glucagon-like peptide 1 (GLP-1) receptors are expressed by pancreatic beta cells and GLP-1 receptor signalling promotes insulin secretion. GLP-1 receptor agonists have neural effects and are therapeutically pr...
-
Chapter
Brief Description of Inheritance Patterns
Increasing data about the human genome and associations between certain genetic regions with various conditions and diseases positioned human genetics at the top of the most emerging fields in medicine. Many d...
-
Chapter
Hereditary Diseases Predisposing to Pheochromocytoma (VHL, NF-1, Paraganglioma Syndromes, and Novel Genes)
Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare tumors originating from catecholamine-producing chromaffin cells. They occur approximately in 0.1% of patients affected with hypertonia. Pheo/PGL may ...
-
Chapter
Overview of Genetically Determined Diseases/Multiple Endocrine Neoplasia Syndromes Predisposing to Endocrine Tumors
In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and M...
-
Chapter
Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, etc.)
Molecular genetic methods have become an organic part of everyday clinical practice. In the past, molecular diagnostic tests were carried out for genetic diagnosis of a particular monogenic disease. In these s...
-
Article
Open AccessAn unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature
Glucocorticoid resistance is a rare, sporadic or familial condition caused by mutation of the gene encoding the glucocorticoid receptor (GR). Clinically it is characterized by symptoms developed due to local, ...
-
Article
Analysis of circulating extracellular vesicle-associated microRNAs in cortisol-producing adrenocortical tumors
Circulating microRNAs (miRNA) have been described in patients with adrenocortical tumors, but the expression of miRNAs in non-functioning and cortisol-producing tumors has not been yet compared. Therefore, the...
