Please use this identifier to cite or link to this item:
http://hdl.handle.net/10553/112399
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Méndez Babey, Máximo | en_US |
dc.contributor.author | Moreno-Carralero, MI | en_US |
dc.contributor.author | Peri, VL | en_US |
dc.contributor.author | Camacho-Galan, R | en_US |
dc.contributor.author | Bosch Benítez, José Miguel | en_US |
dc.contributor.author | Huerta-Aragones, J | en_US |
dc.contributor.author | Sanchez-Calero-Guilarte, J | en_US |
dc.contributor.author | Moreno-Risco, MB | en_US |
dc.contributor.author | Alonso-Dominguez, JM | en_US |
dc.contributor.author | Moran-Jimenez, MJ | en_US |
dc.date.accessioned | 2021-10-25T13:56:17Z | - |
dc.date.available | 2021-10-25T13:56:17Z | - |
dc.date.issued | 2021 | en_US |
dc.identifier.issn | 0939-5555 | en_US |
dc.identifier.uri | http://hdl.handle.net/10553/112399 | - |
dc.description.abstract | Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Annals of Hematology | en_US |
dc.source | Annals of Hematology [ISSN 0939-5555], v. 100(2), p. 353-364, (Febrero 2021) | en_US |
dc.subject | 32 Ciencias médicas | en_US |
dc.subject | 320504 Hematología | en_US |
dc.subject.other | CDA types Ib | en_US |
dc.subject.other | II and III | en_US |
dc.subject.other | CDIN1 | en_US |
dc.subject.other | SEC23B and KIF23 genes | en_US |
dc.title | Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene | en_US |
dc.type | info:eu-repo/semantics/Article | en_US |
dc.identifier.doi | 10.1007/s00277-020-04319-5 | en_US |
dc.identifier.pmid | 33159567 | - |
dc.identifier.scopus | 2-s2.0-85095569749 | - |
dc.identifier.isi | WOS:000587290200001 | - |
dc.contributor.orcid | 0000-0001-8699-1391 | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | 0000-0001-6212-5210 | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | 0000-0002-9209-6657 | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | #NODATA# | - |
dc.contributor.orcid | 0000-0001-6233-5912 | - |
dc.contributor.orcid | 0000-0003-3755-5934 | - |
dc.description.lastpage | 364 | en_US |
dc.identifier.issue | 2 | - |
dc.description.firstpage | 353 | en_US |
dc.relation.volume | 100 | en_US |
dc.investigacion | Ciencias de la Salud | en_US |
dc.type2 | Artículo | en_US |
dc.description.numberofpages | 12 | en_US |
dc.utils.revision | Sí | en_US |
dc.date.coverdate | Noviembre 2021 | en_US |
dc.identifier.ulpgc | Sí | en_US |
dc.contributor.buulpgc | BU-MED | en_US |
dc.description.sjr | 0,994 | |
dc.description.jcr | 4,03 | |
dc.description.sjrq | Q1 | |
dc.description.jcrq | Q2 | |
dc.description.scie | SCIE | |
dc.description.miaricds | 11,0 | |
item.fulltext | Sin texto completo | - |
item.grantfulltext | none | - |
crisitem.author.dept | GIR SIANI: Computación Evolutiva y Aplicaciones | - |
crisitem.author.dept | IU Sistemas Inteligentes y Aplicaciones Numéricas | - |
crisitem.author.dept | Departamento de Informática y Sistemas | - |
crisitem.author.dept | GIR Biopoética, Semiótica Cognitiva y Neuroestética | - |
crisitem.author.dept | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.dept | Departamento de Ciencias Médicas y Quirúrgicas | - |
crisitem.author.orcid | 0000-0002-7133-7108 | - |
crisitem.author.parentorg | IU Sistemas Inteligentes y Aplicaciones Numéricas | - |
crisitem.author.parentorg | IU de Investigaciones Biomédicas y Sanitarias | - |
crisitem.author.fullName | Méndez Babey, Máximo | - |
crisitem.author.fullName | Bosch Benítez, José Miguel | - |
Appears in Collections: | Artículos |
Items in accedaCRIS are protected by copyright, with all rights reserved, unless otherwise indicated.