Endocrine Abstracts

GATA3 mutations cause the congenital autosomal dominant hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 spec...

The aim of the study was investigating of microvessels density (MD) and expression of vascular endothelial growth factor (VEGF) in adrenocortical tumors.Under investigation there were 23 adrenocortical tumors: adenomas – 13, ‘border’ tumors – 4, and carcinomas – 6. Immunohistochemical studied were carried out using monoclonal antibodies to both VEGF and endothelial marker CD34 (Dako). VEGF expression was estimated as a weak one (...

GATA3 mutations cause the congenital autosomal dominant Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extract...

Multiphoton microscopy has defined standards for 3D fluorescence and higher harmonic generation analysis of cells and tissue structures in vitro and in vivo. Compared to single-photon excited confocal microscopy, two-photon microscopy utilizes near-infrared (NIR) excitation generating twice to multi-fold enhanced tissue penetration, reduced light scattering and minimized phototoxicity and photobleaching at out-of-focus regions, yet preserves submicron spatial res...

According to incidence data from Italian cancer registers, colorectal cancer is the third most common cancer in both men and women even considering skin non-melanoma cancers, lung and breast cancers. Moreover it represents the third absolute leading cause of cancer death in women and the fourth in men. Although data on Italian population regarding the role of estrogens in colorectal cancer have not yet been collected, several strands of evidence from international epidemiologi...

Mutations leading to haploinsufficiency of the dual zinc finger transcription factor GATA3 result in the hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome which is an autosomal dominant disorder. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 specific primers were used for PCR amplif...

Activating mutations of the RET proto-oncogene, encoding a tyrosine kinase receptor, are associated with inherited syndromes, MEN2A and MEN2B, and with both familial and sporadic medullary thyroid cancer (MTC). Single base-pair missense mutations in the extracellular cysteine-rich domain are responsible for the majority of MEN2A and familial MTC (FMTC) cases. Rarely, somatic deletions and germline duplications of variable segments of the gene have been reported in spora...

The NR0B1 (Nuclear Receptor Subfamily 0, group b, member 1) gene, originally called DAX1, encodes an atypical member of the nuclear receptor family. It is proposed to co-regulate other nuclear receptors, repress transcription of downstream gene targets such as steroidogenic factor 1 and play a role in testis development and spermatogenesis. The gene has two exons of 1,168 and 345bp, separated by a 3,385bp intron. It is expressed in the hypothalamic-pitutary-adrenal/gonadal axi...

After a period in research and academia, it is difficult to envisage an alternative career. However, there are a surprising number of opportunities available although it does require some determination to discover them. One of these is to join a medical education, or communications agency. These companies work mainly with pharmaceutical companies and generally cover a range of therapeutic areas. There are many such agencies ranging from those with a small number of employees t...

Mutations of parafibromin, which is a 531 amino acid protein, are associated with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. HPT-JT is an autosomal dominant disease that is characterised by the occurrence of parathyroid tumours, which are commonly malignant, and ossifying fibromas of the jaw bones. To date 13 different inactivating germline mutations (3 nonsense, 9 frameshift and one missense altering the initiation codon) of PARAFIBROMIN have been identified in HPT...