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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of <italic>MAFB</italic></title><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">The University of Queensland Centre for Clinical Research, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Queensland Children's Medical Research Institute, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">The University of Queensland Centre for Clinical Research, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Clark, Graeme R" sort="Clark, Graeme R" uniqKey="Clark G" first="Graeme R." last="Clark">Graeme R. Clark</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Glazov, Evgeny A" sort="Glazov, Evgeny A" uniqKey="Glazov E" first="Evgeny A." last="Glazov">Evgeny A. Glazov</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation><nlm:aff id="aff5">Servide de Génétique Médicale, Lausanne, 1011, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Herlin, Troels" sort="Herlin, Troels" uniqKey="Herlin T" first="Troels" last="Herlin">Troels Herlin</name><affiliation><nlm:aff id="aff6">Department of Paediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name><affiliation><nlm:aff id="aff7">Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno P" sort="Leheup, Bruno P" uniqKey="Leheup B" first="Bruno P." last="Leheup">Bruno P. Leheup</name><affiliation><nlm:aff id="aff8">Medecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy EA 4368 Université de Lorraine, 54511 Vandoeuvre les Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Mcgill, Jim" sort="Mcgill, Jim" uniqKey="Mcgill J" first="Jim" last="Mcgill">Jim Mcgill</name><affiliation><nlm:aff id="aff9">Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mctaggart, Steven" sort="Mctaggart, Steven" uniqKey="Mctaggart S" first="Steven" last="Mctaggart">Steven Mctaggart</name><affiliation><nlm:aff id="aff10">Queensland Child and Adolescent Renal Service, Royal Children's and Mater Children's Hospitals, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mittas, Stephan" sort="Mittas, Stephan" uniqKey="Mittas S" first="Stephan" last="Mittas">Stephan Mittas</name><affiliation><nlm:aff id="aff11">Department of Neurology, Cantonal Hospital St. Gallen, 9007 St. Gallen, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Anna L" sort="Mitchell, Anna L" uniqKey="Mitchell A" first="Anna L." last="Mitchell">Anna L. Mitchell</name><affiliation><nlm:aff id="aff12">Centre for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name><affiliation><nlm:aff id="aff13">Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff14">Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Schroeder, Marie" sort="Schroeder, Marie" uniqKey="Schroeder M" first="Marie" last="Schroeder">Marie Schroeder</name><affiliation><nlm:aff id="aff15">Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Terhal, Paulien" sort="Terhal, Paulien" uniqKey="Terhal P" first="Paulien" last="Terhal">Paulien Terhal</name><affiliation><nlm:aff id="aff16">Department of Medical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22387013</idno><idno type="pmc">3309183</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309183</idno><idno type="RBID">PMC:3309183</idno><idno type="doi">10.1016/j.ajhg.2012.01.003</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001195</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001195</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of <italic>MAFB</italic></title><author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">The University of Queensland Centre for Clinical Research, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Queensland Children's Medical Research Institute, The University of Queensland, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Duncan, Emma L" sort="Duncan, Emma L" uniqKey="Duncan E" first="Emma L." last="Duncan">Emma L. Duncan</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">The University of Queensland Centre for Clinical Research, Brisbane, QLD 4029, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Leo, Paul J" sort="Leo, Paul J" uniqKey="Leo P" first="Paul J." last="Leo">Paul J. Leo</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Clark, Graeme R" sort="Clark, Graeme R" uniqKey="Clark G" first="Graeme R." last="Clark">Graeme R. Clark</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Glazov, Evgeny A" sort="Glazov, Evgeny A" uniqKey="Glazov E" first="Evgeny A." last="Glazov">Evgeny A. Glazov</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author><author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name><affiliation><nlm:aff id="aff5">Servide de Génétique Médicale, Lausanne, 1011, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Herlin, Troels" sort="Herlin, Troels" uniqKey="Herlin T" first="Troels" last="Herlin">Troels Herlin</name><affiliation><nlm:aff id="aff6">Department of Paediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name><affiliation><nlm:aff id="aff7">Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno P" sort="Leheup, Bruno P" uniqKey="Leheup B" first="Bruno P." last="Leheup">Bruno P. Leheup</name><affiliation><nlm:aff id="aff8">Medecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy EA 4368 Université de Lorraine, 54511 Vandoeuvre les Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Mcgill, Jim" sort="Mcgill, Jim" uniqKey="Mcgill J" first="Jim" last="Mcgill">Jim Mcgill</name><affiliation><nlm:aff id="aff9">Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mctaggart, Steven" sort="Mctaggart, Steven" uniqKey="Mctaggart S" first="Steven" last="Mctaggart">Steven Mctaggart</name><affiliation><nlm:aff id="aff10">Queensland Child and Adolescent Renal Service, Royal Children's and Mater Children's Hospitals, Brisbane, QLD 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mittas, Stephan" sort="Mittas, Stephan" uniqKey="Mittas S" first="Stephan" last="Mittas">Stephan Mittas</name><affiliation><nlm:aff id="aff11">Department of Neurology, Cantonal Hospital St. Gallen, 9007 St. Gallen, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Anna L" sort="Mitchell, Anna L" uniqKey="Mitchell A" first="Anna L." last="Mitchell">Anna L. Mitchell</name><affiliation><nlm:aff id="aff12">Centre for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R." last="Mortier">Geert R. Mortier</name><affiliation><nlm:aff id="aff13">Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Robertson, Stephen P" sort="Robertson, Stephen P" uniqKey="Robertson S" first="Stephen P." last="Robertson">Stephen P. Robertson</name><affiliation><nlm:aff id="aff14">Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Schroeder, Marie" sort="Schroeder, Marie" uniqKey="Schroeder M" first="Marie" last="Schroeder">Marie Schroeder</name><affiliation><nlm:aff id="aff15">Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark</nlm:aff></affiliation></author><author><name sortKey="Terhal, Paulien" sort="Terhal, Paulien" uniqKey="Terhal P" first="Paulien" last="Terhal">Paulien Terhal</name><affiliation><nlm:aff id="aff16">Department of Medical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Brown, Matthew A" sort="Brown, Matthew A" uniqKey="Brown M" first="Matthew A." last="Brown">Matthew A. Brown</name><affiliation><nlm:aff id="aff1">The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of <italic>MAFB</italic>, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. <italic>MAFB</italic> encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.</p></div></front></TEI><pmc article-type="brief-report"><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">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22387013</article-id><article-id pub-id-type="pmc">3309183</article-id><article-id pub-id-type="publisher-id">AJHG1063</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.01.003</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of <italic>MAFB</italic></article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Zankl</surname><given-names>Andreas</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">17</xref></contrib><contrib contrib-type="author"><name><surname>Duncan</surname><given-names>Emma L.</given-names></name><email>e.duncan@uq.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">17</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Leo</surname><given-names>Paul J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Graeme R.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Glazov</surname><given-names>Evgeny A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Addor</surname><given-names>Marie-Claude</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Herlin</surname><given-names>Troels</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Chong Ae</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Leheup</surname><given-names>Bruno P.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>McGill</surname><given-names>Jim</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>McTaggart</surname><given-names>Steven</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Mittas</surname><given-names>Stephan</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Mitchell</surname><given-names>Anna L.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Mortier</surname><given-names>Geert R.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Robertson</surname><given-names>Stephen P.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Schroeder</surname><given-names>Marie</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Terhal</surname><given-names>Paulien</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Brown</surname><given-names>Matthew A.</given-names></name><email>matt.brown@uq.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD 4102, Australia</aff><aff id="aff2"><label>2</label>The University of Queensland Centre for Clinical Research, Brisbane, QLD 4029, Australia</aff><aff id="aff3"><label>3</label>Queensland Children's Medical Research Institute, The University of Queensland, Brisbane, QLD 4029, Australia</aff><aff id="aff4"><label>4</label>Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia</aff><aff id="aff5"><label>5</label>Servide de Génétique Médicale, Lausanne, 1011, Switzerland</aff><aff id="aff6"><label>6</label>Department of Paediatrics, Aarhus University Hospital, 8200 Aarhus N, Denmark</aff><aff id="aff7"><label>7</label>Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil</aff><aff id="aff8"><label>8</label>Medecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy EA 4368 Université de Lorraine, 54511 Vandoeuvre les Nancy, France</aff><aff id="aff9"><label>9</label>Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, QLD 4029, Australia</aff><aff id="aff10"><label>10</label>Queensland Child and Adolescent Renal Service, Royal Children's and Mater Children's Hospitals, Brisbane, QLD 4029, Australia</aff><aff id="aff11"><label>11</label>Department of Neurology, Cantonal Hospital St. Gallen, 9007 St. Gallen, Switzerland</aff><aff id="aff12"><label>12</label>Centre for Human Genetics, University Hospitals of Cleveland, Cleveland, OH 44106, USA</aff><aff id="aff13"><label>13</label>Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium</aff><aff id="aff14"><label>14</label>Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand</aff><aff id="aff15"><label>15</label>Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus N, Denmark</aff><aff id="aff16"><label>16</label>Department of Medical Genetics, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>e.duncan@uq.edu.au</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>matt.brown@uq.edu.au</email></corresp><fn id="fn1"><label>17</label><p>These authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>3</month><year>2012</year></pub-date><volume>90</volume><issue>3</issue><fpage>494</fpage><lpage>501</lpage><history><date date-type="received"><day>31</day><month>8</month><year>2011</year></date><date date-type="rev-recd"><day>30</day><month>12</month><year>2011</year></date><date date-type="accepted"><day>5</day><month>1</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of <italic>MAFB</italic>, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. <italic>MAFB</italic> encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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