Please use this identifier to cite or link to this item:
http://hdl.handle.net/10553/107132
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Krone, Nils | en_US |
dc.contributor.author | Riepe, Felix Günther | en_US |
dc.contributor.author | Dörr, Helmuth-Günther | en_US |
dc.contributor.author | Morlot, Michel | en_US |
dc.contributor.author | Rudorff, Karl-Heinz | en_US |
dc.contributor.author | Drop, Stenvert L.S. | en_US |
dc.contributor.author | Weigel, Johannes | en_US |
dc.contributor.author | Pura, Mikulas | en_US |
dc.contributor.author | Kreze, Alexander | en_US |
dc.contributor.author | Boronat Cortés, Mauro | en_US |
dc.contributor.author | de Luca, Filippo | en_US |
dc.contributor.author | Tiulpakov, Anatoly | en_US |
dc.contributor.author | Partsch, Carl-Joachim | en_US |
dc.contributor.author | Peter, Michael | en_US |
dc.contributor.author | Sippell, Wolfgang G. | en_US |
dc.date.accessioned | 2021-05-06T09:22:49Z | - |
dc.date.available | 2021-05-06T09:22:49Z | - |
dc.date.issued | 2005 | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/107132 | - |
dc.description.abstract | X‐linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function. These were three nonsense mutations (c.312C>A, p.Cys104X, c.670C>T, p.Gln224X; and c.873G>A, p.Trp291X), five duplications (c.269lowbar;270dup, c.421lowbar;422dup, c.895lowbar;896dup, c.989dup, c.999lowbar;1000dup), and five deletions (c.483del, c.745lowbar;746del, c.734lowbar;740del, c.1092del, and c.1346del). All of the mutations resulted in a premature stop codon destroying the ligand binding domain of the predictive DAX1 protein. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Human Mutation | en_US |
dc.source | Human Mutation [ISSN 1059-7794], v. 25 (5), p. 502-502 | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject.other | NR0B1 | en_US |
dc.subject.other | DAX1 | en_US |
dc.subject.other | AHC | en_US |
dc.subject.other | Adrenal hypoplasia congenital | en_US |
dc.subject.other | Orphan nuclear receptor | en_US |
dc.title | Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita | en_US |
dc.type | info:eu-repo/semantics/article | en_US |
dc.type | article | en_US |
dc.identifier.doi | 10.1002/humu.9331 | en_US |
dc.identifier.issue | 5 | - |
dc.description.firstpage | 502 | en_US |
dc.relation.volume | 25 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.utils.revision | Sí | en_US |
dc.identifier.ulpgc | No | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.jcr | 7,923 | |
dc.description.jcrq | Q1 | |
dc.description.scie | SCIE | |
item.fulltext | Sin texto completo | - |
item.grantfulltext | none | - |
crisitem.author.dept | GIR IUIBS: Diabetes y endocrinología aplicada | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0001-8535-8543 | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Boronat Cortés, Mauro | - |
Appears in Collections: | Artículos |
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