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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading</title><author><name sortKey="Livesey, K" sort="Livesey, K" uniqKey="Livesey K" first="K" last="Livesey">K. Livesey</name></author><author><name sortKey="Wimhurst, V" sort="Wimhurst, V" uniqKey="Wimhurst V" first="V" last="Wimhurst">V. Wimhurst</name></author><author><name sortKey="Carter, K" sort="Carter, K" uniqKey="Carter K" first="K" last="Carter">K. Carter</name></author><author><name sortKey="Worwood, M" sort="Worwood, M" uniqKey="Worwood M" first="M" last="Worwood">M. Worwood</name></author><author><name sortKey="Cadet, E" sort="Cadet, E" uniqKey="Cadet E" first="E" last="Cadet">E. Cadet</name></author><author><name sortKey="Rochette, J" sort="Rochette, J" uniqKey="Rochette J" first="J" last="Rochette">J. Rochette</name></author><author><name sortKey="Roberts, A" sort="Roberts, A" uniqKey="Roberts A" first="A" last="Roberts">A. Roberts</name></author><author><name sortKey="Pointon, J" sort="Pointon, J" uniqKey="Pointon J" first="J" last="Pointon">J. Pointon</name></author><author><name sortKey="Merryweather Clar, A" sort="Merryweather Clar, A" uniqKey="Merryweather Clar A" first="A" last="Merryweather-Clar.">A. Merryweather-Clar.</name></author><author><name sortKey="Bassett, M" sort="Bassett, M" uniqKey="Bassett M" first="M" last="Bassett">M. Bassett</name></author><author><name sortKey="Jouanolle, A" sort="Jouanolle, A" uniqKey="Jouanolle A" first="A" last="Jouanolle">A. Jouanolle</name></author><author><name sortKey="Mosser, A" sort="Mosser, A" uniqKey="Mosser A" first="A" last="Mosser">A. Mosser</name></author><author><name sortKey="David, V" sort="David, V" uniqKey="David V" first="V" last="David">V. David</name></author><author><name sortKey="Poulton, J" sort="Poulton, J" uniqKey="Poulton J" first="J" last="Poulton">J. Poulton</name></author><author><name sortKey="Robson, K" sort="Robson, K" uniqKey="Robson K" first="K" last="Robson">K. Robson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">14729817</idno><idno type="pmc">1757237</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1757237</idno><idno type="RBID">PMC:1757237</idno><idno type="doi">10.1136/jmg.2003.008805</idno><date when="2004">2004</date><idno type="wicri:Area/Pmc/Corpus">000194</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000194</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading</title><author><name sortKey="Livesey, K" sort="Livesey, K" uniqKey="Livesey K" first="K" last="Livesey">K. Livesey</name></author><author><name sortKey="Wimhurst, V" sort="Wimhurst, V" uniqKey="Wimhurst V" first="V" last="Wimhurst">V. Wimhurst</name></author><author><name sortKey="Carter, K" sort="Carter, K" uniqKey="Carter K" first="K" last="Carter">K. Carter</name></author><author><name sortKey="Worwood, M" sort="Worwood, M" uniqKey="Worwood M" first="M" last="Worwood">M. Worwood</name></author><author><name sortKey="Cadet, E" sort="Cadet, E" uniqKey="Cadet E" first="E" last="Cadet">E. Cadet</name></author><author><name sortKey="Rochette, J" sort="Rochette, J" uniqKey="Rochette J" first="J" last="Rochette">J. Rochette</name></author><author><name sortKey="Roberts, A" sort="Roberts, A" uniqKey="Roberts A" first="A" last="Roberts">A. Roberts</name></author><author><name sortKey="Pointon, J" sort="Pointon, J" uniqKey="Pointon J" first="J" last="Pointon">J. Pointon</name></author><author><name sortKey="Merryweather Clar, A" sort="Merryweather Clar, A" uniqKey="Merryweather Clar A" first="A" last="Merryweather-Clar.">A. Merryweather-Clar.</name></author><author><name sortKey="Bassett, M" sort="Bassett, M" uniqKey="Bassett M" first="M" last="Bassett">M. Bassett</name></author><author><name sortKey="Jouanolle, A" sort="Jouanolle, A" uniqKey="Jouanolle A" first="A" last="Jouanolle">A. Jouanolle</name></author><author><name sortKey="Mosser, A" sort="Mosser, A" uniqKey="Mosser A" first="A" last="Mosser">A. Mosser</name></author><author><name sortKey="David, V" sort="David, V" uniqKey="David V" first="V" last="David">V. David</name></author><author><name sortKey="Poulton, J" sort="Poulton, J" uniqKey="Poulton J" first="J" last="Poulton">J. Poulton</name></author><author><name sortKey="Robson, K" sort="Robson, K" uniqKey="Robson K" first="K" last="Robson">K. Robson</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><bold>Background:</bold>Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the <italic>HFE</italic> gene. They have variable expression of iron overload and present with a variety of complications, including liver disease, diabetes, arthropathy, fatigue, and cardiomyopathy. The mitochondrial 16189 variant is associated with diabetes, dilated cardiomyopathy, and low body fat at birth, and might contribute to genetic predisposition in further multifactorial disorders. The objective of this study was to determine the frequency of the 16189 variant in a range of patients with haemochromatosis, who had mutations in the <italic>HFE</italic> gene. </p><p><bold>Methods:</bold>Blood DNA was analysed for the presence of the 16189 variant in British, French, and Australian C282Y homozygotes and controls, with known iron status, and in birth cohorts. </p><p><bold>Results:</bold>The frequency of the mitochondrial 16189 variant was found to be elevated in individuals with haemochromatosis who were homozygous for the C282Y allele, compared with population controls and with C282Y homozygotes who were asymptomatic (42/292 (14.4%); 102/1186 (8.6%) (p = 0.003); and 2/64 (3.1%) (p = 0.023), respectively). </p><p><bold>Conclusions:</bold>Iron loading in C282Y homozygotes with HH was exacerbated by the presence of the mitochondrial 16189 variant. </p></div></front></TEI><pmc xml:lang="EN" article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">14729817</article-id><article-id pub-id-type="pmc">1757237</article-id><article-id pub-id-type="doi">10.1136/jmg.2003.008805</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Livesey</surname><given-names>K</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wimhurst</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Carter</surname><given-names>K</given-names></name></contrib><contrib contrib-type="author"><name><surname>Worwood</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cadet</surname><given-names>E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rochette</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Roberts</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Pointon</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Merryweather-Clar...</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bassett</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jouanolle</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mosser</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>David</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Poulton</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Robson</surname><given-names>K</given-names></name></contrib></contrib-group><aff>MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.</aff><pub-date pub-type="ppub"><month>1</month><year>2004</year></pub-date><volume>41</volume><issue>1</issue><fpage>6</fpage><lpage>10</lpage><self-uri xlink:role="pdf" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/reprint/41/1/6.pdf"></self-uri><self-uri xlink:role="abstract" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/content/abstract/41/1/6"></self-uri><self-uri xlink:role="fulltext" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/content/full/41/1/6"></self-uri><abstract><p><bold>Background:</bold>Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the <italic>HFE</italic> gene. They have variable expression of iron overload and present with a variety of complications, including liver disease, diabetes, arthropathy, fatigue, and cardiomyopathy. The mitochondrial 16189 variant is associated with diabetes, dilated cardiomyopathy, and low body fat at birth, and might contribute to genetic predisposition in further multifactorial disorders. The objective of this study was to determine the frequency of the 16189 variant in a range of patients with haemochromatosis, who had mutations in the <italic>HFE</italic> gene. </p><p><bold>Methods:</bold>Blood DNA was analysed for the presence of the 16189 variant in British, French, and Australian C282Y homozygotes and controls, with known iron status, and in birth cohorts. </p><p><bold>Results:</bold>The frequency of the mitochondrial 16189 variant was found to be elevated in individuals with haemochromatosis who were homozygous for the C282Y allele, compared with population controls and with C282Y homozygotes who were asymptomatic (42/292 (14.4%); 102/1186 (8.6%) (p = 0.003); and 2/64 (3.1%) (p = 0.023), respectively). </p><p><bold>Conclusions:</bold>Iron loading in C282Y homozygotes with HH was exacerbated by the presence of the mitochondrial 16189 variant. </p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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