Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/112399
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dc.contributor.authorMéndez Babey, Máximoen_US
dc.contributor.authorMoreno-Carralero, MIen_US
dc.contributor.authorPeri, VLen_US
dc.contributor.authorCamacho-Galan, Ren_US
dc.contributor.authorBosch Benítez, José Miguelen_US
dc.contributor.authorHuerta-Aragones, Jen_US
dc.contributor.authorSanchez-Calero-Guilarte, Jen_US
dc.contributor.authorMoreno-Risco, MBen_US
dc.contributor.authorAlonso-Dominguez, JMen_US
dc.contributor.authorMoran-Jimenez, MJen_US
dc.date.accessioned2021-10-25T13:56:17Z-
dc.date.available2021-10-25T13:56:17Z-
dc.date.issued2021en_US
dc.identifier.issn0939-5555en_US
dc.identifier.urihttp://hdl.handle.net/10553/112399-
dc.description.abstractCongenital 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.languageengen_US
dc.relation.ispartofAnnals of Hematologyen_US
dc.sourceAnnals of Hematology [ISSN 0939-5555], v. 100(2), p. 353-364, (Febrero 2021)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320504 Hematologíaen_US
dc.subject.otherCDA types Iben_US
dc.subject.otherII and IIIen_US
dc.subject.otherCDIN1en_US
dc.subject.otherSEC23B and KIF23 genesen_US
dc.titleCongenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 geneen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.identifier.doi10.1007/s00277-020-04319-5en_US
dc.identifier.pmid33159567-
dc.identifier.scopus2-s2.0-85095569749-
dc.identifier.isiWOS:000587290200001-
dc.contributor.orcid0000-0001-8699-1391-
dc.contributor.orcid#NODATA#-
dc.contributor.orcid#NODATA#-
dc.contributor.orcid0000-0001-6212-5210-
dc.contributor.orcid#NODATA#-
dc.contributor.orcid0000-0002-9209-6657-
dc.contributor.orcid#NODATA#-
dc.contributor.orcid#NODATA#-
dc.contributor.orcid0000-0001-6233-5912-
dc.contributor.orcid0000-0003-3755-5934-
dc.description.lastpage364en_US
dc.identifier.issue2-
dc.description.firstpage353en_US
dc.relation.volume100en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages12en_US
dc.utils.revisionen_US
dc.date.coverdateNoviembre 2021en_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr0,994
dc.description.jcr4,03
dc.description.sjrqQ1
dc.description.jcrqQ2
dc.description.scieSCIE
dc.description.miaricds11,0
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR SIANI: Computación Evolutiva y Aplicaciones-
crisitem.author.deptIU Sistemas Inteligentes y Aplicaciones Numéricas-
crisitem.author.deptDepartamento de Informática y Sistemas-
crisitem.author.deptGIR Biopoética, Semiótica Cognitiva y Neuroestética-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-7133-7108-
crisitem.author.parentorgIU Sistemas Inteligentes y Aplicaciones Numéricas-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameMéndez Babey, Máximo-
crisitem.author.fullNameBosch Benítez, José Miguel-
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