| Metabolic insights from extreme human insulin resistance phenotypes. | |
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MedLine Citation:
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PMID: 22498245 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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As well as improving diagnostic and clinical outcomes for affected patients, understanding the genetic basis of rare human metabolic disorders has resulted in several fundamental biological insights. In some cases understanding extreme phenotypes has also informed thinking about more prevalent metabolic diseases. Insulin resistance underpins the twin epidemics of obesity and type 2 diabetes as well as accounting for many of the metabolic problems encompassed by the term metabolic syndrome. This review provides a brief update on current understanding of human severe insulin resistance syndromes, before highlighting recent insights provided by studies in these rare syndromes into the molecular pathogenesis of elements of the metabolic syndrome. |
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Authors:
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Anna Stears; Stephen O'Rahilly; Robert K Semple; David B Savage |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Best practice & research. Clinical endocrinology & metabolism Volume: 26 ISSN: 1878-1594 ISO Abbreviation: Best Pract. Res. Clin. Endocrinol. Metab. Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-04-13 Completed Date: 2012-08-06 Revised Date: 2012-11-07 |
Medline Journal Info:
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Nlm Unique ID: 101120682 Medline TA: Best Pract Res Clin Endocrinol Metab Country: Netherlands |
Other Details:
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Languages: eng Pagination: 145-57 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Ltd. All rights reserved. |
Affiliation:
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Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Institute of Metabolic Science, University of Cambridge, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acanthosis Nigricans
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diagnosis Adiponectin / blood Diabetes Mellitus, Type 2 / genetics Dyslipidemias / diagnosis Fatty Liver Female Humans Hyperinsulinism / physiopathology Hypoglycemia / diagnosis Insulin Resistance / genetics* Lipogenesis / physiology Metabolic Syndrome X / genetics, metabolism* Mitochondrial Diseases / genetics, physiopathology Obesity / genetics Phenotype Phosphatidylinositol 3-Kinase / metabolism Polycystic Ovary Syndrome / diagnosis Proto-Oncogene Proteins c-akt / physiology Receptor, IGF Type 1 / physiology Signal Transduction / physiology |
| Grant Support | |
ID/Acronym/Agency:
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//Medical Research Council; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Adiponectin; EC 2.7.1.137/Phosphatidylinositol 3-Kinase; EC 2.7.10.1/Receptor, IGF Type 1; EC 2.7.11.1/Proto-Oncogene Proteins c-akt |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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