| Mutations in inhibin and activin genes associated with human disease. | |
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MedLine Citation:
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PMID: 21827823 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Inhibins and activins are members of the transforming growth factor (TGFβ) superfamily, that includes the TGFβs, inhibins and activins, bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs). The family members are expressed throughout the human body, and are involved in the regulation of a range of important functions. The precise regulation of the TGFβ pathways is critical, and mutations of individual molecules or even minor alterations of signalling will have a significant affect on function, that may lead to development of disease or predisposition to the development of disease. The inhibins and activins regulate aspects of the male and female reproductive system, therefore, it is not surprising that most of the diseases associated with abnormalities of the inhibin and activin genes are focused on reproductive disorders and reproductive cancers. In this review, I highlight the role of genetic variants in the development of conditions such as premature ovarian failure, pre-eclampsia, and various reproductive cancers. Given the recent advances in human genetic research, such as genome wide association studies and next generation sequencing, it is likely that inhibins and activins will be shown to play more important roles in a range of human genetic diseases in the future. |
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Authors:
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Andrew N Shelling |
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Publication Detail:
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Type: Journal Article; Review Date: 2011-07-30 |
Journal Detail:
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Title: Molecular and cellular endocrinology Volume: 359 ISSN: 1872-8057 ISO Abbreviation: Mol. Cell. Endocrinol. Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-06-04 Completed Date: 2012-10-17 Revised Date: 2012-11-30 |
Medline Journal Info:
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Nlm Unique ID: 7500844 Medline TA: Mol Cell Endocrinol Country: Ireland |
Other Details:
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Languages: eng Pagination: 113-20 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
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Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. a.shelling@auckland.ac.nz |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Activins
/
genetics*,
metabolism,
physiology Animals Endocrine Gland Neoplasms / genetics Female Genital Neoplasms, Male / genetics Humans Inhibins / genetics*, metabolism, physiology Male Mutation* Pre-Eclampsia / genetics Pregnancy Primary Ovarian Insufficiency / genetics Signal Transduction TGF-beta Superfamily Proteins / genetics Twins, Dizygotic / genetics |
| Chemical | |
Reg. No./Substance:
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0/TGF-beta Superfamily Proteins; 104625-48-1/Activins; 57285-09-3/Inhibins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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