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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)</title><author><name sortKey="Quilter, C R" sort="Quilter, C R" uniqKey="Quilter C" first="C. R." last="Quilter">C. R. Quilter</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Karcanias, A C" sort="Karcanias, A C" uniqKey="Karcanias A" first="A. C." last="Karcanias">A. C. Karcanias</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Bagga, M R" sort="Bagga, M R" uniqKey="Bagga M" first="M. R." last="Bagga">M. R. Bagga</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Duncan, S" sort="Duncan, S" uniqKey="Duncan S" first="S." last="Duncan">S. Duncan</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Murray, A" sort="Murray, A" uniqKey="Murray A" first="A." last="Murray">A. Murray</name><affiliation><nlm:aff id="A2">Peninsula Medical School, University of Exeter, Exeter EX1 2LU, UK</nlm:aff></affiliation></author><author><name sortKey="Conway, G S" sort="Conway, G S" uniqKey="Conway G" first="G. S." last="Conway">G. S. Conway</name><affiliation><nlm:aff id="A3">Department of Endocrinology, University College Hospitals, London NW1 2PQ, UK</nlm:aff></affiliation></author><author><name sortKey="Sargent, C A" sort="Sargent, C A" uniqKey="Sargent C" first="C. A." last="Sargent">C. A. Sargent</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Affara, N A" sort="Affara, N A" uniqKey="Affara N" first="N. A." last="Affara">N. A. Affara</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20570974</idno><idno type="pmc">3836253</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836253</idno><idno type="RBID">PMC:3836253</idno><idno type="doi">10.1093/humrep/deq158</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">003831</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003831</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)</title><author><name sortKey="Quilter, C R" sort="Quilter, C R" uniqKey="Quilter C" first="C. R." last="Quilter">C. R. Quilter</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Karcanias, A C" sort="Karcanias, A C" uniqKey="Karcanias A" first="A. C." last="Karcanias">A. C. Karcanias</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Bagga, M R" sort="Bagga, M R" uniqKey="Bagga M" first="M. R." last="Bagga">M. R. Bagga</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Duncan, S" sort="Duncan, S" uniqKey="Duncan S" first="S." last="Duncan">S. Duncan</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Murray, A" sort="Murray, A" uniqKey="Murray A" first="A." last="Murray">A. Murray</name><affiliation><nlm:aff id="A2">Peninsula Medical School, University of Exeter, Exeter EX1 2LU, UK</nlm:aff></affiliation></author><author><name sortKey="Conway, G S" sort="Conway, G S" uniqKey="Conway G" first="G. S." last="Conway">G. S. Conway</name><affiliation><nlm:aff id="A3">Department of Endocrinology, University College Hospitals, London NW1 2PQ, UK</nlm:aff></affiliation></author><author><name sortKey="Sargent, C A" sort="Sargent, C A" uniqKey="Sargent C" first="C. A." last="Sargent">C. A. Sargent</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author><author><name sortKey="Affara, N A" sort="Affara, N A" uniqKey="Affara N" first="N. A." last="Affara">N. A. Affara</name><affiliation><nlm:aff id="A1">Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Human reproduction (Oxford, England)</title><idno type="ISSN">0268-1161</idno><idno type="eISSN">1460-2350</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>BACKGROUND</title><p id="P3">Premature ovarian failure (POF) is a heterogeneous disease defined as amenorrhoea for >6 months before age 40, with an FSH serum level >40 mIU/ml (menopausal levels). While there is a strong genetic association with POF, familial studies have also indicated that idiopathic POF may also be genetically linked. Conventional cytogenetic analyses have identified regions of the X chromosome that are strongly associated with ovarian function, as well as several POF candidate genes. Cryptic chromosome abnormalities that have been missed might be detected by array comparative genomic hybridization.</p></sec><sec id="S2"><title>METHODS</title><p id="P4">In this study, samples from 42 idiopathic POF patients were subjected to a complete end-to-end X/Y chromosome tiling path array to achieve a detailed copy number variation (CNV) analysis of X chromosome involvement in POF. The arrays also contained a 1 Mb autosomal tiling path as a reference control. Quantitative PCR for selected genes contained within the CNVs was used to confirm the majority of the changes detected. The expression pattern of some of these genes in human tissue RNA was examined by reverse transcription (RT)–PCR.</p></sec><sec id="S3"><title>RESULTS</title><p id="P5">A number of CNVs were identified on both Xp and Xq, with several being shared among the POF cases. Some CNVs fall within known polymorphic CNV regions, and others span previously identified POF candidate regions and genes.</p></sec><sec id="S4"><title>CONCLUSIONS</title><p id="P6">The new data reported in this study reveal further discrete X chromosome intervals not previously associated with the disease and therefore implicate new clusters of candidate genes. Further studies will be required to elucidate their involvement in POF.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8701199</journal-id><journal-id journal-id-type="pubmed-jr-id">4629</journal-id><journal-id journal-id-type="nlm-ta">Hum Reprod</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Reprod.</journal-id><journal-title-group><journal-title>Human reproduction (Oxford, England)</journal-title></journal-title-group><issn pub-type="ppub">0268-1161</issn><issn pub-type="epub">1460-2350</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20570974</article-id><article-id pub-id-type="pmc">3836253</article-id><article-id pub-id-type="doi">10.1093/humrep/deq158</article-id><article-id pub-id-type="manuscript">EMS54010</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Quilter</surname><given-names>C.R.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Karcanias</surname><given-names>A.C.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Bagga</surname><given-names>M.R.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Duncan</surname><given-names>S.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Murray</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Conway</surname><given-names>G.S.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Sargent</surname><given-names>C.A.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Affara</surname><given-names>N.A.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK</aff><aff id="A2"><label>2</label>Peninsula Medical School, University of Exeter, Exeter EX1 2LU, UK</aff><aff id="A3"><label>3</label>Department of Endocrinology, University College Hospitals, London NW1 2PQ, UK</aff><author-notes><corresp id="CR1"><label>*</label>Correspondence address. <email>na@mole.bio.cam.ac.uk</email></corresp><fn fn-type="equal" id="FN1"><label>†</label><p id="P1">These authors have contributed equally to the work in this paper.</p></fn><fn id="FN2"><p id="P2"><bold>Authors’ roles</bold> C.R.Q.: analysis and interpretation of data, drafting the article; A.C.K.: analysis and interpretation of data. M.R.B.: analysis and interpretation of data. S.D.: analysis and interpretation of data. A.M.: acquisition of data. G.S.C.: acquisition of data. C.A.S.: substantial contributions to conception and design, revising the article critically for important intellectual content. N.A.A.: substantial contributions to conception and design, revising the article critically for important intellectual content and final approval of the version to be published.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>22</day><month>7</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>22</day><month>6</month><year>2010</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>21</day><month>11</month><year>2013</year></pub-date><volume>25</volume><issue>8</issue><elocation-id>10.1093/humrep/deq158</elocation-id><permissions><copyright-statement>© The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.</copyright-statement><copyright-year>2010</copyright-year></permissions><abstract><sec id="S1"><title>BACKGROUND</title><p id="P3">Premature ovarian failure (POF) is a heterogeneous disease defined as amenorrhoea for >6 months before age 40, with an FSH serum level >40 mIU/ml (menopausal levels). While there is a strong genetic association with POF, familial studies have also indicated that idiopathic POF may also be genetically linked. Conventional cytogenetic analyses have identified regions of the X chromosome that are strongly associated with ovarian function, as well as several POF candidate genes. Cryptic chromosome abnormalities that have been missed might be detected by array comparative genomic hybridization.</p></sec><sec id="S2"><title>METHODS</title><p id="P4">In this study, samples from 42 idiopathic POF patients were subjected to a complete end-to-end X/Y chromosome tiling path array to achieve a detailed copy number variation (CNV) analysis of X chromosome involvement in POF. The arrays also contained a 1 Mb autosomal tiling path as a reference control. Quantitative PCR for selected genes contained within the CNVs was used to confirm the majority of the changes detected. The expression pattern of some of these genes in human tissue RNA was examined by reverse transcription (RT)–PCR.</p></sec><sec id="S3"><title>RESULTS</title><p id="P5">A number of CNVs were identified on both Xp and Xq, with several being shared among the POF cases. Some CNVs fall within known polymorphic CNV regions, and others span previously identified POF candidate regions and genes.</p></sec><sec id="S4"><title>CONCLUSIONS</title><p id="P6">The new data reported in this study reveal further discrete X chromosome intervals not previously associated with the disease and therefore implicate new clusters of candidate genes. Further studies will be required to elucidate their involvement in POF.</p></sec></abstract><kwd-group><kwd>ovarian failure</kwd><kwd>X chromosome</kwd><kwd>CNV</kwd><kwd>female infertility</kwd><kwd>Q-PCR</kwd></kwd-group><funding-group><award-group><funding-source country="United Kingdom">Wellcome Trust : </funding-source><award-id>077150 || WT</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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