Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/48610
Campo DC | Valor | idioma |
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dc.contributor.author | Bolze, Alexandre | en_US |
dc.contributor.author | Boisson, Bertrand | en_US |
dc.contributor.author | Bosch, Barbara | en_US |
dc.contributor.author | Antipenko, Alexander | en_US |
dc.contributor.author | Bouaziz, Matthieu | en_US |
dc.contributor.author | Sackstein, Paul | en_US |
dc.contributor.author | Chaker-Margot, Malik | en_US |
dc.contributor.author | Barlogis, Vincent | en_US |
dc.contributor.author | Briggs, Tracy | en_US |
dc.contributor.author | Colino, Elena | en_US |
dc.contributor.author | Elmore, Aurora C. | en_US |
dc.contributor.author | Fischer, Alain | en_US |
dc.contributor.author | Genel, Ferah | en_US |
dc.contributor.author | Hewlett, Angela | en_US |
dc.contributor.author | Jedidi, Maher | en_US |
dc.contributor.author | Kelecic, Jadranka | en_US |
dc.contributor.author | Krüger, Renate | en_US |
dc.contributor.author | Ku, Cheng Lung | en_US |
dc.contributor.author | Kumararatne, Dinakantha | en_US |
dc.contributor.author | Lefevre-Utile, Alain | en_US |
dc.contributor.author | Loughlin, Sam | en_US |
dc.contributor.author | Mahlaoui, Nizar | en_US |
dc.contributor.author | Markus, Susanne | en_US |
dc.contributor.author | Garcia, Juan Miguel | en_US |
dc.contributor.author | Nizon, Mathilde | en_US |
dc.contributor.author | Oleastro, Matias | en_US |
dc.contributor.author | Pac, Malgorzata | en_US |
dc.contributor.author | Picard, Capucine | en_US |
dc.contributor.author | Pollard, Andrew J. | en_US |
dc.contributor.author | Rodriguez-Gallego, Carlos | en_US |
dc.contributor.author | Thomas, Caroline | en_US |
dc.contributor.author | Bernuth, Horst Von | en_US |
dc.contributor.author | Worth, Austen | en_US |
dc.contributor.author | Meyts, Isabelle | en_US |
dc.contributor.author | Risolino, Maurizio | en_US |
dc.contributor.author | Selleri, Licia | en_US |
dc.contributor.author | Puel, Anne | en_US |
dc.contributor.author | Klinge, Sebastian | en_US |
dc.contributor.author | Abel, Laurent | en_US |
dc.contributor.author | Casanova, Jean Laurent | en_US |
dc.date.accessioned | 2018-11-23T23:21:39Z | - |
dc.date.available | 2018-11-23T23:21:39Z | - |
dc.date.issued | 2018 | en_US |
dc.identifier.issn | 0027-8424 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/48610 | - |
dc.description.abstract | Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the protein-coding region of RPSA, encoding ribosomal protein SA, caused ICA by haploinsufficiency with complete penetrance. We reported seven heterozygous protein-coding mutations in 8 of the 23 kindreds studied, including 6 of the 8 multiplex kindreds. We have since enrolled 33 new kindreds, 5 of which are multiplex. We describe here 11 new heterozygous ICA-causing RPSA protein-coding mutations, and the first two mutations in the 5′-UTR of this gene, which disrupt mRNA splicing. Overall, 40 of the 73 ICA patients (55%) and 23 of the 56 kindreds (41%) carry mutations located in translated or untranslated exons of RPSA. Eleven of the 43 kindreds affected by sporadic disease (26%) carry RPSA mutations, whereas 12 of the 13 multiplex kindreds (92%) carry RPSA mutations. We also report that 6 of 18 (33%) protein-coding mutations and the two (100%) 5′-UTR mutations display incomplete penetrance. Three mutations were identified in two independent kindreds, due to a hotspot or a founder effect. Finally, RPSA ICA-causing mutations were demonstrated to be de novo in 7 of the 23 probands. Mutations in RPSA exons can affect the translated or untranslated regions and can underlie ICA with complete or incomplete penetrance | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Proceedings of the National Academy of Sciences of the United States of America | en_US |
dc.source | Proceedings of the National Academy of Sciences of the United States of America[ISSN 0027-8424],v. 115, p. E8007-E8016 | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 3205 Medicina interna | en_US |
dc.subject.other | Isolated congenital asplenia | en_US |
dc.subject.other | Spleen | en_US |
dc.subject.other | incomplete penetranceI | en_US |
dc.subject.other | Ribosomopathy | en_US |
dc.subject.other | RPSA | en_US |
dc.title | Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1073/pnas.1805437115 | en_US |
dc.identifier.scopus | 85051824997 | - |
dc.contributor.authorscopusid | 36468055100 | - |
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dc.contributor.authorscopusid | 7201863327 | - |
dc.description.lastpage | E8016 | en_US |
dc.description.firstpage | E8007 | en_US |
dc.relation.volume | 115 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.description.numberofpages | 10 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Agosto 2018 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.sjr | 5,601 | - |
dc.description.jcr | 9,58 | - |
dc.description.sjrq | Q1 | - |
dc.description.jcrq | Q1 | - |
dc.description.scie | SCIE | - |
dc.description.erihplus | ERIH PLUS | |
item.grantfulltext | none | - |
item.fulltext | Sin texto completo | - |
crisitem.author.dept | GIR IUIBS: Farmacología Molecular y Traslacional | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0002-4344-8644 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Rodríguez Gallego, José Carlos | - |
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