Affiliation: San Giovanni Rotondo
Salcuni A, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, et al
. Parathyroid carcinoma. Best Pract Res Clin Endocrinol Metab. 2018;: pubmed publisher
..Patients with PC should be followed up along their lifetime. ..
Cinque L, Pugliese F, Salcuni A, Scillitani A, Guarnieri V. Molecular pathogenesis of parathyroid tumours. Best Pract Res Clin Endocrinol Metab. 2018;: pubmed publisher
..Here we present an overview of more recent acquisitions about the genetic causes along with their molecular mechanisms of benign, but also, malignant parathyroid tumours either in sporadic and familial presentation. ..
Guarnieri V, Muscarella L, Amoroso R, Quattrone A, Abate M, Coco M, et al
. Identification of two novel mutations and of a novel critical region in the KRIT1 gene. Neurogenetics. 2007;8:29-37 pubmed
..Moreover, our genotype-phenotype functional correlation suggests that the C-terminal portion of the KRIT1 protein is likely to contain a short, previously unrecognized segment necessary for its activity. ..
Sanpaolo E, Miroballo M, Corbetta S, Verdelli C, Baorda F, Balsamo T, et al
. EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms. Endocrine. 2016;54:55-59 pubmed
..EZH2 and ZFX genes do not seem to have an impact on the onset of most parathyroid tumours, both benign and malignant, though further studies on larger cohorts of different ethnicity are needed. ..
Guarnieri V, Seaberg R, Kelly C, Jean Davidson M, Raphael S, Shuen A, et al
. Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. BMC Med Genet. 2017;18:83 pubmed publisher
..A novel gross deletion mutation in CDC73 was identified in a three-generation HPT-JT family emphasizing the importance of including screening for large deletions in the molecular diagnostic protocol. ..
Cinque L, Sparaneo A, Salcuni A, de Martino D, Battista C, Logoluso F, et al
. MEN1 gene mutation with parathyroid carcinoma: first report of a familial case. Endocr Connect. 2017;6:886-891 pubmed publisher
..This suggests that additional constitutional genetic mutations may contribute to the variation in malignant potential and clinical behavior of parathyroid tumors in MEN1. ..
Guarnieri V, Valentina D Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, et al
. CASR gene activating mutations in two families with autosomal dominant hypocalcemia. Mol Genet Metab. 2012;107:548-52 pubmed publisher
..Our work enlarged the spectrum of mutations of the CASR and contributed to a better elucidation of the protein function. ..