Publications by authors named "C Achilla"

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by the overactivity of the parathyroid glands. While a few genes have been linked to a predisposition for PHPT, the genetic foundation of the disease remains unclear, despite it being the third most prevalent endocrine disorder. This pilot study aimed to investigate, for the first time, the potential association between specific variants in Annexin A2 (-rs7170178, rs17191344, rs11633032), Mediator Complex Subunit 12 (-rs1057519912), Calmodulin 1 (-rs12885713), and Mitogen-Activated Protein Kinase 1 (-rs1057519911) genes with PHPT.

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: Parathyroid adenoma is a distinct cause of primary hyperparathyroidism, with the vast majority being sporadic ones. Proteomic analysis of parathyroid adenomas has proposed a large number of related proteins. The aim of this study is to evaluate the immunohistochemical staining of ANXA2, MED12, MAPK1 and VDR in parathyroid adenoma tissue.

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Article Synopsis
  • Papillary thyroid cancer (PTC) is the most common thyroid cancer, with a notably higher incidence in females, potentially linked to X chromosome inheritance.
  • The study examined two X-linked genes, Forkhead Box P3 (FOXP3) and Protein Phosphatase 1 Regulatory Subunit 3F (PPP1R3F), in relation to PTC risk and gender differences by analyzing genetic data from 136 PTC patients and 136 healthy controls.
  • Results showed that specific genetic variants (rs3761548) are more likely to predispose females to PTC, and differences in methylation status of FOXP3 were found in PTC patients compared to controls, suggesting a mechanism for increased risk in
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Background: Association studies of vitamin D receptor (VDR) polymorphisms with COVID-19 severity have produced inconsistent results in different populations. Herein we examined gene polymorphisms in a Caucasian Greek cohort of COVID-19 patients.

Methods: This was a case-control study in a tertiary university hospital in Greece including 137 COVID-19 patients with varying disease severities and 72 healthy individuals.

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Introduction: Primary HPT (PHPT) is a common disorder, affecting approximately 1% of the general population. Parathyroid adenomas emerge as non-familial sporadic in 90% of cases. The aim of this review is to give a detailed update of molecular genetics of sporadic parathyroid adenoma reported in international literature.

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