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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</title><author><name sortKey="Finno, C J" sort="Finno, C J" uniqKey="Finno C" first="C. J." last="Finno">C. J. Finno</name></author><author><name sortKey="Famula, T" sort="Famula, T" uniqKey="Famula T" first="T." last="Famula">T. Famula</name></author><author><name sortKey="Aleman, M" sort="Aleman, M" uniqKey="Aleman M" first="M." last="Aleman">M. Aleman</name></author><author><name sortKey="Higgins, R J" sort="Higgins, R J" uniqKey="Higgins R" first="R. J." last="Higgins">R. J. Higgins</name></author><author><name sortKey="Madigan, J E" sort="Madigan, J E" uniqKey="Madigan J" first="J. E." last="Madigan">J. E. Madigan</name></author><author><name sortKey="Bannasch, D L" sort="Bannasch, D L" uniqKey="Bannasch D" first="D. L." last="Bannasch">D. L. Bannasch</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23186252</idno><idno type="pmc">4557866</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557866</idno><idno type="RBID">PMC:4557866</idno><idno type="doi">10.1111/jvim.12015</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">003837</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003837</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</title><author><name sortKey="Finno, C J" sort="Finno, C J" uniqKey="Finno C" first="C. J." last="Finno">C. J. Finno</name></author><author><name sortKey="Famula, T" sort="Famula, T" uniqKey="Famula T" first="T." last="Famula">T. Famula</name></author><author><name sortKey="Aleman, M" sort="Aleman, M" uniqKey="Aleman M" first="M." last="Aleman">M. Aleman</name></author><author><name sortKey="Higgins, R J" sort="Higgins, R J" uniqKey="Higgins R" first="R. J." last="Higgins">R. J. Higgins</name></author><author><name sortKey="Madigan, J E" sort="Madigan, J E" uniqKey="Madigan J" first="J. E." last="Madigan">J. E. Madigan</name></author><author><name sortKey="Bannasch, D L" sort="Bannasch, D L" uniqKey="Bannasch D" first="D. L." last="Bannasch">D. L. Bannasch</name></author></analytic><series><title level="j">Journal of veterinary internal medicine / American College of Veterinary Internal Medicine</title><idno type="ISSN">0891-6640</idno><idno type="eISSN">1939-1676</idno><imprint><date when="2012">2012</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="P1">Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (<italic>TTPA</italic>). To evaluate variants found upon sequencing <italic>TTPA</italic> in the horse, the mode of inheritance for NAD/EDM had to be established.</p></sec><sec id="S2"><title>Hypothesis</title><p id="P2">NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in <italic>TTPA</italic>.</p></sec><sec id="S3"><title>Animals</title><p id="P3">88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QHs with a diagnosis of NAD/EDM with 6 affected and 4 unaffected cases confirmed at postmortem examination.</p></sec><sec id="S4"><title>Procedures</title><p id="P4">Pedigrees and genotypes across 54,000 single nucleotide polymorphism (SNP) markers were assessed to determine heritability and mode of inheritance of NAD/EDM. <italic>TTPA</italic> sequence of exon/intron boundaries was evaluated in 2 affected and 2 control horses. An association analysis was performed by 71 SNPs surrounding <italic>TTPA</italic> and 8 SNPs within <italic>TTPA</italic> that were discovered by sequencing. RT-PCR for <italic>TTPA</italic> was performed on mRNA from the liver of 4 affected and 4 control horses.</p></sec><sec id="S5"><title>Results</title><p id="P5">Equine NAD/EDM appears to be inherited as a polygenic trait and, within this family of QHs, demonstrates high heritability. Sequencing of <italic>TTPA</italic> identified 12 variants. No significant association was found using the 79 available variants in and surrounding <italic>TTPA</italic>. RT-PCR yielded PCR products of equivalent sizes between affected cases and controls.</p></sec><sec id="S6"><title>Conclusions and Clinical Importance</title><p id="P6">NAD/EDM demonstrates heritability in this family of QHs. Variants in <italic>TTPA</italic> are not responsible for NAD/EDM in this study population.</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">8708660</journal-id><journal-id journal-id-type="pubmed-jr-id">5227</journal-id><journal-id journal-id-type="nlm-ta">J Vet Intern Med</journal-id><journal-id journal-id-type="iso-abbrev">J. Vet. Intern. Med.</journal-id><journal-title-group><journal-title>Journal of veterinary internal medicine / American College of Veterinary Internal Medicine</journal-title></journal-title-group><issn pub-type="ppub">0891-6640</issn><issn pub-type="epub">1939-1676</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23186252</article-id><article-id pub-id-type="pmc">4557866</article-id><article-id pub-id-type="doi">10.1111/jvim.12015</article-id><article-id pub-id-type="manuscript">NIHMS419351</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Finno</surname><given-names>C.J.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Famula</surname><given-names>T.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Aleman</surname><given-names>M.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Higgins</surname><given-names>R.J.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Madigan</surname><given-names>J.E.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bannasch</surname><given-names>D.L.</given-names></name></contrib><aff id="A1">Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA (Finno, Bannasch); the Department of Animal Science, School of Veterinary Medicine, University of California-Davis, Davis, CA (Famula); the William R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, CA (Aleman); the Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California-Davis, Davis, CA (Higgins); and the Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, CA (Madigan)</aff></contrib-group><author-notes><corresp id="cor1">Corresponding author: Dr C. Finno, University of Minnesota CVM, 1365 Gortner Ave, St. Paul, MN 55108; <email>finn0100@umn.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>29</day><month>8</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>27</day><month>11</month><year>2012</year></pub-date><pub-date pub-type="ppub"><season>Jan-Feb</season><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>02</day><month>9</month><year>2015</year></pub-date><volume>27</volume><issue>1</issue><fpage>177</fpage><lpage>185</lpage><pmc-comment>elocation-id from pubmed: 10.1111/jvim.12015</pmc-comment>
<abstract><sec id="S1"><title>Background</title><p id="P1">Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (<italic>TTPA</italic>). To evaluate variants found upon sequencing <italic>TTPA</italic> in the horse, the mode of inheritance for NAD/EDM had to be established.</p></sec><sec id="S2"><title>Hypothesis</title><p id="P2">NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in <italic>TTPA</italic>.</p></sec><sec id="S3"><title>Animals</title><p id="P3">88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QHs with a diagnosis of NAD/EDM with 6 affected and 4 unaffected cases confirmed at postmortem examination.</p></sec><sec id="S4"><title>Procedures</title><p id="P4">Pedigrees and genotypes across 54,000 single nucleotide polymorphism (SNP) markers were assessed to determine heritability and mode of inheritance of NAD/EDM. <italic>TTPA</italic> sequence of exon/intron boundaries was evaluated in 2 affected and 2 control horses. An association analysis was performed by 71 SNPs surrounding <italic>TTPA</italic> and 8 SNPs within <italic>TTPA</italic> that were discovered by sequencing. RT-PCR for <italic>TTPA</italic> was performed on mRNA from the liver of 4 affected and 4 control horses.</p></sec><sec id="S5"><title>Results</title><p id="P5">Equine NAD/EDM appears to be inherited as a polygenic trait and, within this family of QHs, demonstrates high heritability. Sequencing of <italic>TTPA</italic> identified 12 variants. No significant association was found using the 79 available variants in and surrounding <italic>TTPA</italic>. RT-PCR yielded PCR products of equivalent sizes between affected cases and controls.</p></sec><sec id="S6"><title>Conclusions and Clinical Importance</title><p id="P6">NAD/EDM demonstrates heritability in this family of QHs. Variants in <italic>TTPA</italic> are not responsible for NAD/EDM in this study population.</p></sec></abstract><kwd-group><kwd>Alpha-tocopherol</kwd><kwd>Equine</kwd><kwd>Genetics</kwd><kwd>Vitamin E</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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