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 |
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creator | Garfield, Natasha 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. |
doi_str_mv | 10.1016/S1043-2760(01)00435-0 |
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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.</description><identifier>ISSN: 1043-2760</identifier><identifier>EISSN: 1879-3061</identifier><identifier>DOI: 10.1016/S1043-2760(01)00435-0</identifier><identifier>PMID: 11504667</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>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. 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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.</description><subject>Animals</subject><subject>Autoimmune Diseases</subject><subject>Biological and medical sciences</subject><subject>Disease Models, Animal</subject><subject>Drug Resistance</subject><subject>Endocrinopathies</subject><subject>genetics</subject><subject>Humans</subject><subject>hypoparathyroidism</subject><subject>Hypoparathyroidism - etiology</subject><subject>Hypoparathyroidism - genetics</subject><subject>Hypoparathyroidism - immunology</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>mutations</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Parathyroid Glands - abnormalities</subject><subject>Parathyroid Glands - physiopathology</subject><subject>Parathyroid Glands - surgery</subject><subject>parathyroid hormone</subject><subject>Parathyroid Hormone - secretion</subject><subject>Parathyroids. Parafollicular cells. Cholecalciferol. 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Target tissue resistance. Benign neoplasms</topic><topic>Parathyroid Glands - abnormalities</topic><topic>Parathyroid Glands - physiopathology</topic><topic>Parathyroid Glands - surgery</topic><topic>parathyroid hormone</topic><topic>Parathyroid Hormone - secretion</topic><topic>Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Garfield, Natasha</creatorcontrib><creatorcontrib>Karaplis, Andrew C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Trends in Endocrinology & Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Garfield, Natasha</au><au>Karaplis, Andrew C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetics and animal models of hypoparathyroidism</atitle><jtitle>Trends in Endocrinology & Metabolism</jtitle><addtitle>Trends Endocrinol Metab</addtitle><date>2001-09-01</date><risdate>2001</risdate><volume>12</volume><issue>7</issue><spage>288</spage><epage>294</epage><pages>288-294</pages><issn>1043-2760</issn><eissn>1879-3061</eissn><abstract>Hypoparathyroidism is a heterogeneous group of disorders with diverse etiologies. 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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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