Genetics and animal models of hypoparathyroidism

Hypoparathyroidism is a heterogeneous group of disorders with diverse etiologies. During the past decade, major advances have been made towards unraveling the precise cellular and molecular mechanisms that underlie the pathogenesis of this endocrinopathy. Studies of patients afflicted with the disea...

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Veröffentlicht in:Trends in Endocrinology & Metabolism 2001-09, Vol.12 (7), p.288-294
Hauptverfasser: Garfield, Natasha, Karaplis, Andrew C.
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Karaplis, Andrew C.
description Hypoparathyroidism is a heterogeneous group of disorders with diverse etiologies. During the past decade, major advances have been made towards unraveling the precise cellular and molecular mechanisms that underlie the pathogenesis of this endocrinopathy. Studies of patients afflicted with the disease and of genetically altered mice with strategically engineered mutations have paved new and exciting avenues of investigation into its causes. While focusing on these discoveries, we review areas of controversy and discuss possible approaches for their resolution.
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subjects Animals
Autoimmune Diseases
Biological and medical sciences
Disease Models, Animal
Drug Resistance
Endocrinopathies
genetics
Humans
hypoparathyroidism
Hypoparathyroidism - etiology
Hypoparathyroidism - genetics
Hypoparathyroidism - immunology
Medical sciences
Mutation
mutations
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Parathyroid Glands - abnormalities
Parathyroid Glands - physiopathology
Parathyroid Glands - surgery
parathyroid hormone
Parathyroid Hormone - secretion
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
title Genetics and animal models of hypoparathyroidism
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