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dc.contributor.authorArias-Salgado, E. G.
dc.contributor.authorGalvez, E.
dc.contributor.authorPlanas-Cerezales, L.
dc.contributor.authorPintado-Berninches, L.
dc.contributor.authorVallespin, E.
dc.contributor.authorMartinez, P.
dc.contributor.authorCarrillo, J.
dc.contributor.authorIarriccio, L.
dc.contributor.authorRuiz-Llobet, A.
dc.contributor.authorCatala, A.
dc.contributor.authorBadell-Serra, I.
dc.contributor.authorGonzalez-Granado, L. I.
dc.contributor.authorMartin-Nalda, A.
dc.contributor.authorMartinez-Gallo, M.
dc.contributor.authorGalera-Minarro, A.
dc.contributor.authorRodriguez-Vigil, C.
dc.contributor.authorBastos-Oreiro, M.
dc.contributor.authorde Nanclares, G. P.
dc.contributor.authorLeiro Fernández, Virginia 
dc.contributor.authorUria, M. L.
dc.contributor.authorDiaz-Heredia, C.
dc.contributor.authorValenzuela, C.
dc.contributor.authorMartin, S.
dc.contributor.authorLopez-Muniz, B.
dc.contributor.authorLapunzina, P.
dc.contributor.authorSevilla, J.
dc.contributor.authorMolina-Molina, M.
dc.contributor.authorPerona, R.
dc.contributor.authorSastre, L.
dc.date.accessioned2022-01-28T11:50:59Z
dc.date.available2022-01-28T11:50:59Z
dc.date.issued2019
dc.identifier.issn1750-1172
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30995915es
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471801/pdf/13023_2019_Article_1046.pdfes
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30995915es
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471801/pdf/13023_2019_Article_1046.pdfes
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15994
dc.description.abstractBACKGROUND: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. METHODS: This article describes the genetic characterization of a cohort of patients. Telomere length was determined by Southern blot and quantitative PCR. Nucleotide variants were analyzed either by high-resolution melting analysis and Sanger sequencing of selected exons or by massive sequencing of a panel of genes. RESULTS: Forty-seven patients with telomere length below the 10% of normal population, affected with three telomeropathies: dyskeratosis congenita (4), aplastic anemia (22) or pulmonary fibrosis (21) were analyzed. Eighteen of these patients presented known pathogenic or novel possibly pathogenic variants in the telomere-related genes TERT, TERC, RTEL1, CTC1 and ACD. In addition, the analyses of a panel of 188 genes related to haematological disorders indicated that a relevant proportion of the patients (up to 35%) presented rare variants in genes related to DNA repair or in genes coding for proteins involved in the resolution of complex DNA structures, that participate in telomere replication. Mutations in some of these genes are causative of several syndromes previously associated to telomere shortening. CONCLUSION: Novel variants in telomere, DNA repair and replication genes are described that might indicate the contribution of variants in these genes to the development of telomeropathies. Patients carrying variants in telomere-related genes presented worse evolution after diagnosis than the rest of patients analyzed.en
dc.language.isoenges
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshPulmonary Fibrosis*
dc.subject.meshAdult*
dc.subject.meshExons*
dc.subject.meshAnemia*
dc.subject.meshAdolescent*
dc.subject.meshDyskeratosis Congenita*
dc.subject.meshRNA*
dc.subject.meshTelomere*
dc.subject.meshPedigree*
dc.subject.meshHumans*
dc.subject.meshDNA Repair*
dc.subject.meshYoung Adult*
dc.subject.meshTelomerase*
dc.subject.meshTelomere Shortening*
dc.subject.meshInfant*
dc.titleGenetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genesen
dc.typeArtigoes
dc.authorsophosArias-Salgado, E. G.;Galvez, E.;Planas-Cerezales, L.;Pintado-Berninches, L.;Vallespin, E.;Martinez, P.;Carrillo, J.;Iarriccio, L.;Ruiz-Llobet, A.;Catala, A.;Badell-Serra, I.;Gonzalez-Granado, L. I.;Martin-Nalda, A.;Martinez-Gallo, M.;Galera-Minarro, A.;Rodriguez-Vigil, C.;Bastos-Oreiro, M.;de Nanclares, G. P.;Leiro-Fernandez, V.;Uria, M. L.;Diaz-Heredia, C.;Valenzuela, C.;Martin, S.;Lopez-Muniz, B.;Lapunzina, P.;Sevilla, J.;Molina-Molina, M.;Perona, R.;Sastre, L.
dc.identifier.doi10.1186/s13023-019-1046-0
dc.identifier.pmid30995915
dc.identifier.sophos33069
dc.journal.titleOrphanet Journal of Rare Diseaseses
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Neumoloxíaes
dc.rights.accessRightsopenAccesses
dc.subject.decsanemia*
dc.subject.decsdisqueratosis congénita*
dc.subject.decsexones*
dc.subject.decsadulto*
dc.subject.decsARN*
dc.subject.decsadulto joven*
dc.subject.decsacortamiento telomérico*
dc.subject.decshumanos*
dc.subject.decslactante*
dc.subject.decsfibrosis pulmonar*
dc.subject.decslinaje*
dc.subject.decsreparación del ADN*
dc.subject.decstelómero*
dc.subject.decstelomerasa*
dc.subject.decsadolescente*
dc.subject.keywordCHUVIes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number14es


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Atribución 4.0 Internacional
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