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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (<italic>ACTA1</italic>)</title><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Dye, Danielle E" sort="Dye, Danielle E" uniqKey="Dye D" first="Danielle E." last="Dye">Danielle E. Dye</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="A2">Department of Medical Genetics, University of Helsinki and the Folkhälsan Insitute of Genetics. Mailing address: The Folkhälsan Department of Medical Genetics, P.O. Box 211, FIN-00251 Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Richard, Gabriele" sort="Richard, Gabriele" uniqKey="Richard G" first="Gabriele" last="Richard">Gabriele Richard</name><affiliation><nlm:aff id="A3">GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A4">Laboratoire de Biochimie et Génétique Moléculaire, Inserm U607, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.</nlm:aff></affiliation></author><author><name sortKey="Lillis, Suzanne" sort="Lillis, Suzanne" uniqKey="Lillis S" first="Suzanne" last="Lillis">Suzanne Lillis</name><affiliation><nlm:aff id="A5">DNA Laboratory, Guy's Hospital, London SE1 9RT, England, UK.</nlm:aff></affiliation></author><author><name sortKey="Winder, Thomas L" sort="Winder, Thomas L" uniqKey="Winder T" first="Thomas L." last="Winder">Thomas L. Winder</name><affiliation><nlm:aff id="A6">Prevention Genetics, Marshfield, WI 54449, USA.</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="A7">Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK.</nlm:aff></affiliation></author><author><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name><affiliation><nlm:aff id="A8">Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.</nlm:aff></affiliation></author><author><name sortKey="Mitrani Rosenbaum, Stella" sort="Mitrani Rosenbaum, Stella" uniqKey="Mitrani Rosenbaum S" first="Stella" last="Mitrani-Rosenbaum">Stella Mitrani-Rosenbaum</name><affiliation><nlm:aff id="A9">Goldyne Savad Institute of Gene Therapy, Hadassa - The Hebrew University Medical Center, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Tuomey, Darren" sort="Tuomey, Darren" uniqKey="Tuomey D" first="Darren" last="Tuomey">Darren Tuomey</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Sparrow, John C" sort="Sparrow, John C" uniqKey="Sparrow J" first="John C." last="Sparrow">John C. Sparrow</name><affiliation><nlm:aff id="A10">Department of Biology (Area 10), University of York, York YO10 5DD, UK.</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="A11">Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA.</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19562689</idno><idno type="pmc">2784950</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784950</idno><idno type="RBID">PMC:2784950</idno><idno type="doi">10.1002/humu.21059</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">001481</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001481</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (<italic>ACTA1</italic>)</title><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Dye, Danielle E" sort="Dye, Danielle E" uniqKey="Dye D" first="Danielle E." last="Dye">Danielle E. Dye</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="A2">Department of Medical Genetics, University of Helsinki and the Folkhälsan Insitute of Genetics. Mailing address: The Folkhälsan Department of Medical Genetics, P.O. Box 211, FIN-00251 Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Richard, Gabriele" sort="Richard, Gabriele" uniqKey="Richard G" first="Gabriele" last="Richard">Gabriele Richard</name><affiliation><nlm:aff id="A3">GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A4">Laboratoire de Biochimie et Génétique Moléculaire, Inserm U607, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.</nlm:aff></affiliation></author><author><name sortKey="Lillis, Suzanne" sort="Lillis, Suzanne" uniqKey="Lillis S" first="Suzanne" last="Lillis">Suzanne Lillis</name><affiliation><nlm:aff id="A5">DNA Laboratory, Guy's Hospital, London SE1 9RT, England, UK.</nlm:aff></affiliation></author><author><name sortKey="Winder, Thomas L" sort="Winder, Thomas L" uniqKey="Winder T" first="Thomas L." last="Winder">Thomas L. Winder</name><affiliation><nlm:aff id="A6">Prevention Genetics, Marshfield, WI 54449, USA.</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="A7">Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK.</nlm:aff></affiliation></author><author><name sortKey="Graziano, Claudio" sort="Graziano, Claudio" uniqKey="Graziano C" first="Claudio" last="Graziano">Claudio Graziano</name><affiliation><nlm:aff id="A8">Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.</nlm:aff></affiliation></author><author><name sortKey="Mitrani Rosenbaum, Stella" sort="Mitrani Rosenbaum, Stella" uniqKey="Mitrani Rosenbaum S" first="Stella" last="Mitrani-Rosenbaum">Stella Mitrani-Rosenbaum</name><affiliation><nlm:aff id="A9">Goldyne Savad Institute of Gene Therapy, Hadassa - The Hebrew University Medical Center, Jerusalem, Israel.</nlm:aff></affiliation></author><author><name sortKey="Tuomey, Darren" sort="Tuomey, Darren" uniqKey="Tuomey D" first="Darren" last="Tuomey">Darren Tuomey</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author><author><name sortKey="Sparrow, John C" sort="Sparrow, John C" uniqKey="Sparrow J" first="John C." last="Sparrow">John C. Sparrow</name><affiliation><nlm:aff id="A10">Department of Biology (Area 10), University of York, York YO10 5DD, UK.</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="A11">Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA.</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name><affiliation><nlm:aff id="A1">Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">The <italic>ACTA1</italic> gene encodes skeletal muscle α-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle and essential, along with myosin, for muscle contraction. <italic>ACTA1</italic> disease-causing mutations were first described in 1999, when a total of 15 mutations were known. In this article we describe 177 different disease-causing <italic>ACTA1</italic> mutations including 85 that have not been described before. <italic>ACTA1</italic> mutations result in five overlapping congenital myopathies: nemaline myopathy, intranuclear rod myopathy, actin filament aggregate myopathy, congenital fibre type disproportion and myopathy with core-like areas. Mixtures of these histopathological phenotypes may be seen in a single biopsy from one patient. Irrespective of the histopathology, the disease is frequently clinically severe, with many patients dying within the first year of life. Most mutations are dominant and most patients have <italic>de novo</italic> mutations not present in the peripheral blood DNA of either parent. Only 10% of mutations are recessive and they are genetic or functional null mutations. To aid molecular diagnosis and establishing genotype-phenotype correlations, we have developed a locus-specific database for <italic>ACTA1</italic> variations (<ext-link ext-link-type="uri" xlink:href="http://waimr.uwa.edu.au/">http://waimr.uwa.edu.au/</ext-link>).</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><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">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-title>Human mutation</journal-title><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">19562689</article-id><article-id pub-id-type="pmc">2784950</article-id><article-id pub-id-type="doi">10.1002/humu.21059</article-id><article-id pub-id-type="manuscript">NIHMS143000</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (<italic>ACTA1</italic>)</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dye</surname><given-names>Danielle E.</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>Wallgren-Pettersson</surname><given-names>Carina</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Richard</surname><given-names>Gabriele</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Monnier</surname><given-names>Nicole</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lillis</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Winder</surname><given-names>Thomas L.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Graziano</surname><given-names>Claudio</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Mitrani-Rosenbaum</surname><given-names>Stella</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Tuomey</surname><given-names>Darren</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Sparrow</surname><given-names>John C.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Nowak</surname><given-names>Kristen J.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, WA 6009.</aff><aff id="A2"><label>2</label>Department of Medical Genetics, University of Helsinki and the Folkhälsan Insitute of Genetics. Mailing address: The Folkhälsan Department of Medical Genetics, P.O. Box 211, FIN-00251 Helsinki, Finland.</aff><aff id="A3"><label>3</label>GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.</aff><aff id="A4"><label>4</label>Laboratoire de Biochimie et Génétique Moléculaire, Inserm U607, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.</aff><aff id="A5"><label>5</label>DNA Laboratory, Guy's Hospital, London SE1 9RT, England, UK.</aff><aff id="A6"><label>6</label>Prevention Genetics, Marshfield, WI 54449, USA.</aff><aff id="A7"><label>7</label>Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK.</aff><aff id="A8"><label>8</label>Medical Genetics Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.</aff><aff id="A9"><label>9</label>Goldyne Savad Institute of Gene Therapy, Hadassa - The Hebrew University Medical Center, Jerusalem, Israel.</aff><aff id="A10"><label>10</label>Department of Biology (Area 10), University of York, York YO10 5DD, UK.</aff><aff id="A11"><label>11</label>Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA.</aff><author-notes><corresp id="cor1">Corresponding author: Professor Nigel G Laing, Centre for Medical Research, University of Western Australia M519, Western Australian Institute for Medical Research, 'B' Block, QEII Medical Centre, Nedlands, Western Australia 6009, AUSTRALIA. tel: +61-8-9346-4611; FAX: +61-8-9346-1818, <email>nlaing@cyllene.uwa.edu.au</email></corresp><fn id="FN1" fn-type="present-address"><label>*</label><p id="P1">Current address – The Office of Population Health Genomics, Department of Health, Western Australia.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>28</day><month>10</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>9</month><year>2010</year></pub-date><volume>30</volume><issue>9</issue><fpage>1267</fpage><lpage>1277</lpage><abstract><p id="P2">The <italic>ACTA1</italic> gene encodes skeletal muscle α-actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle and essential, along with myosin, for muscle contraction. <italic>ACTA1</italic> disease-causing mutations were first described in 1999, when a total of 15 mutations were known. In this article we describe 177 different disease-causing <italic>ACTA1</italic> mutations including 85 that have not been described before. <italic>ACTA1</italic> mutations result in five overlapping congenital myopathies: nemaline myopathy, intranuclear rod myopathy, actin filament aggregate myopathy, congenital fibre type disproportion and myopathy with core-like areas. Mixtures of these histopathological phenotypes may be seen in a single biopsy from one patient. Irrespective of the histopathology, the disease is frequently clinically severe, with many patients dying within the first year of life. Most mutations are dominant and most patients have <italic>de novo</italic> mutations not present in the peripheral blood DNA of either parent. Only 10% of mutations are recessive and they are genetic or functional null mutations. To aid molecular diagnosis and establishing genotype-phenotype correlations, we have developed a locus-specific database for <italic>ACTA1</italic> variations (<ext-link ext-link-type="uri" xlink:href="http://waimr.uwa.edu.au/">http://waimr.uwa.edu.au/</ext-link>).</p></abstract><kwd-group><kwd>skeletal muscle α-actin</kwd><kwd><italic>ACTA1</italic></kwd><kwd>congenital myopathies</kwd><kwd>locus-specific database</kwd></kwd-group><contract-num rid="AR1">R01 AR044345-13
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