| Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses. | |
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MedLine Citation:
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PMID: 20045495 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klinefelter syndrome is a sex chromosomal abnormality (47, XXY karyotype), occurring approximately in 1 in 1000 male live births. In the present study proteomic analysis was performed in twelve 2nd trimester amniotic fluid samples, eight coming from pregnancies with normal males and four with Klinefelter syndrome foetuses, as shown by routine prenatal cytogenetic analysis. Samples were analysed by 2-DE, coupled with MALDI-TOF-MS analysis. Three proteins (Ceruloplasmin, Alpha-1-antitrypsin and Zinc-alpha-2-glycoprotein) were found to be up-regulated in samples obtained from pregnancies with Klinefelter syndrome foetuses, whereas four proteins (Apolipoprotein A-I, Plasma retinol-binding protein, Gelsolin, and Vitamin D-binding protein) were down regulated when compared to proteins detected in samples from normal foetuses. The differential expression of Ceruloplasmin, Apolipoprotein A-I and Plasma retinol-binding protein was further confirmed by immunoblotting. Since these proteins are likely to cross the placenta barrier and be detected in maternal plasma they could be used as biomarkers for the non-invasive prenatal diagnosis of Klinefelter syndrome. |
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Authors:
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Athanasios K Anagnostopoulos; Aggeliki Kolialexi; Ariadni Mavrou; Konstantinos Vougas; Nikos Papantoniou; Aris Antsaklis; Emmanuel Kanavakis; Michael Fountoulakis; George Th Tsangaris |
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Publication Detail:
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Type: Journal Article Date: 2010-01-04 |
Journal Detail:
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Title: Journal of proteomics Volume: 73 ISSN: 1876-7737 ISO Abbreviation: J Proteomics Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-02 Completed Date: 2010-07-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101475056 Medline TA: J Proteomics Country: Netherlands |
Other Details:
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Languages: eng Pagination: 943-50 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2009 Elsevier B.V. All rights reserved. |
Affiliation:
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Medical Genetics, Athens University School of Medicine, Athens, Greece. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amniotic Fluid
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chemistry* Apolipoprotein A-I / blood Case-Control Studies Ceruloplasmin / analysis Female Fetus Gene Expression Regulation Humans Klinefelter Syndrome / diagnosis, genetics* Male Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis / methods Proteomics / methods* Retinol-Binding Proteins, Plasma / analysis |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein A-I; 0/Retinol-Binding Proteins, Plasma; EC 1.16.3.1/Ceruloplasmin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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