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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans</title><author><name sortKey="Humbert, Camille" sort="Humbert, Camille" uniqKey="Humbert C" first="Camille" last="Humbert">Camille Humbert</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Silbermann, Flora" sort="Silbermann, Flora" uniqKey="Silbermann F" first="Flora" last="Silbermann">Flora Silbermann</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name><affiliation><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Parisot, Melanie" sort="Parisot, Melanie" uniqKey="Parisot M" first="Mélanie" last="Parisot">Mélanie Parisot</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Zarhrate, Mohammed" sort="Zarhrate, Mohammed" uniqKey="Zarhrate M" first="Mohammed" last="Zarhrate">Mohammed Zarhrate</name><affiliation><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name><affiliation><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tores, Frederic" sort="Tores, Frederic" uniqKey="Tores F" first="Frédéric" last="Tores">Frédéric Tores</name><affiliation><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><affiliation><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Petrov, Yuliya" sort="Petrov, Yuliya" uniqKey="Petrov Y" first="Yuliya" last="Petrov">Yuliya Petrov</name><affiliation><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Khau Van Kien, Philippe" sort="Khau Van Kien, Philippe" uniqKey="Khau Van Kien P" first="Philippe" last="Khau Van Kien">Philippe Khau Van Kien</name><affiliation><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation><nlm:aff id="aff8">Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Leroy, Brigitte" sort="Leroy, Brigitte" uniqKey="Leroy B" first="Brigitte" last="Leroy">Brigitte Leroy</name><affiliation><nlm:aff id="aff9">Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><affiliation><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24439109</idno><idno type="pmc">3928807</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807</idno><idno type="RBID">PMC:3928807</idno><idno type="doi">10.1016/j.ajhg.2013.12.017</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001207</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001207</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans</title><author><name sortKey="Humbert, Camille" sort="Humbert, Camille" uniqKey="Humbert C" first="Camille" last="Humbert">Camille Humbert</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Silbermann, Flora" sort="Silbermann, Flora" uniqKey="Silbermann F" first="Flora" last="Silbermann">Flora Silbermann</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name><affiliation><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Parisot, Melanie" sort="Parisot, Melanie" uniqKey="Parisot M" first="Mélanie" last="Parisot">Mélanie Parisot</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Zarhrate, Mohammed" sort="Zarhrate, Mohammed" uniqKey="Zarhrate M" first="Mohammed" last="Zarhrate">Mohammed Zarhrate</name><affiliation><nlm:aff id="aff4">Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name><affiliation><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tores, Frederic" sort="Tores, Frederic" uniqKey="Tores F" first="Frédéric" last="Tores">Frédéric Tores</name><affiliation><nlm:aff id="aff5">Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Blanchet, Patricia" sort="Blanchet, Patricia" uniqKey="Blanchet P" first="Patricia" last="Blanchet">Patricia Blanchet</name><affiliation><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name><affiliation><nlm:aff id="aff6">Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Petrov, Yuliya" sort="Petrov, Yuliya" uniqKey="Petrov Y" first="Yuliya" last="Petrov">Yuliya Petrov</name><affiliation><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Khau Van Kien, Philippe" sort="Khau Van Kien, Philippe" uniqKey="Khau Van Kien P" first="Philippe" last="Khau Van Kien">Philippe Khau Van Kien</name><affiliation><nlm:aff id="aff7">Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</nlm:aff></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation><nlm:aff id="aff8">Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Leroy, Brigitte" sort="Leroy, Brigitte" uniqKey="Leroy B" first="Brigitte" last="Leroy">Brigitte Leroy</name><affiliation><nlm:aff id="aff9">Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation><nlm:aff id="aff3">Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><affiliation><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Benmerah, Alexandre" sort="Benmerah, Alexandre" uniqKey="Benmerah A" first="Alexandre" last="Benmerah">Alexandre Benmerah</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Jeanpierre, Cecile" sort="Jeanpierre, Cecile" uniqKey="Jeanpierre C" first="Cécile" last="Jeanpierre">Cécile Jeanpierre</name><affiliation><nlm:aff id="aff1">Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</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="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for <italic>RET</italic> mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene <italic>ITGA8</italic> in two families. <italic>Itga8</italic> homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human <italic>ITGA8</italic> mutations. These results demonstrate that mutations of <italic>ITGA8</italic> are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.</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">24439109</article-id><article-id pub-id-type="pmc">3928807</article-id><article-id pub-id-type="publisher-id">S0002-9297(13)00614-9</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2013.12.017</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Humbert</surname><given-names>Camille</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">12</xref></contrib><contrib contrib-type="author"><name><surname>Silbermann</surname><given-names>Flora</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">12</xref></contrib><contrib contrib-type="author"><name><surname>Morar</surname><given-names>Bharti</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Parisot</surname><given-names>Mélanie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Zarhrate</surname><given-names>Mohammed</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Masson</surname><given-names>Cécile</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Tores</surname><given-names>Frédéric</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Blanchet</surname><given-names>Patricia</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Perez</surname><given-names>Marie-José</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Petrov</surname><given-names>Yuliya</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Khau Van Kien</surname><given-names>Philippe</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Roume</surname><given-names>Joelle</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Leroy</surname><given-names>Brigitte</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Gribouval</surname><given-names>Olivier</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Kalaydjieva</surname><given-names>Luba</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Heidet</surname><given-names>Laurence</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Salomon</surname><given-names>Rémi</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Antignac</surname><given-names>Corinne</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Benmerah</surname><given-names>Alexandre</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Saunier</surname><given-names>Sophie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Jeanpierre</surname><given-names>Cécile</given-names></name><email>cecile.jeanpierre@inserm.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><aff id="aff2"><label>2</label>Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</aff><aff id="aff3"><label>3</label>Harry Perkins Institute of Medical Research/Centre for Medical Research, The University of Western Australia, Perth, Nedlands, WA 6009, Australia</aff><aff id="aff4"><label>4</label>Plateforme de Génomique, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><aff id="aff5"><label>5</label>Plateforme de Bioinformatique, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France</aff><aff id="aff6"><label>6</label>Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</aff><aff id="aff7"><label>7</label>Unité de Génétique Médicale et de Cytogénétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Nîmes-Hôpital Carémeau, 30029 Nîmes, France</aff><aff id="aff8"><label>8</label>Unité de Génétique Médicale, Service de Cytogénétique et de Biologie de la Reproduction, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</aff><aff id="aff9"><label>9</label>Service d’Anatomie et de Cytologie Pathologiques, CHI Poissy - St Germain-en-Laye, 78300 Poissy, France</aff><aff id="aff10"><label>10</label>Assistance Publique - Hôpitaux de Paris, Centre de Référence MARHEA, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><aff id="aff11"><label>11</label>Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>cecile.jeanpierre@inserm.fr</email></corresp><fn id="fn1"><label>12</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>06</day><month>2</month><year>2014</year></pub-date><volume>94</volume><issue>2</issue><fpage>288</fpage><lpage>294</lpage><history><date date-type="received"><day>21</day><month>11</month><year>2013</year></date><date date-type="accepted"><day>30</day><month>12</month><year>2013</year></date></history><permissions><copyright-statement>© 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2014</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for <italic>RET</italic> mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene <italic>ITGA8</italic> in two families. <italic>Itga8</italic> homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human <italic>ITGA8</italic> mutations. These results demonstrate that mutations of <italic>ITGA8</italic> are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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