open access

Vol 56, No 3 (2005)
Congressional papers
Published online: 2006-03-24
Submitted: 2013-02-15
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Molecular aspects of the etiopathogenesis of the parathyroid gland diseases

Katarzyna Łącka
Endokrynologia Polska 2005;56(3):327-332.

open access

Vol 56, No 3 (2005)
Congressional papers
Published online: 2006-03-24
Submitted: 2013-02-15

Abstract

Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism).
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.

Abstract

Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism).
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Get Citation

Keywords

familial primary hyperparathyroidism; hypoparathyroidism; pseudohypoparathyroidism; HRTP 2 gene; MEN1 gene; PTH gene; CASR gene; GNAS 1 gene

About this article
Title

Molecular aspects of the etiopathogenesis of the parathyroid gland diseases

Journal

Endokrynologia Polska

Issue

Vol 56, No 3 (2005)

Pages

327-332

Published online

2006-03-24

Bibliographic record

Endokrynologia Polska 2005;56(3):327-332.

Keywords

familial primary hyperparathyroidism
hypoparathyroidism
pseudohypoparathyroidism
HRTP 2 gene
MEN1 gene
PTH gene
CASR gene
GNAS 1 gene

Authors

Katarzyna Łącka

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