Matches in SemOpenAlex for { <https://semopenalex.org/work/W2945194311> ?p ?o ?g. }
- W2945194311 abstract "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. 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. 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. 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." @default.
- W2945194311 created "2019-05-29" @default.
- W2945194311 creator A5008282209 @default.
- W2945194311 creator A5013383606 @default.
- W2945194311 creator A5014670177 @default.
- W2945194311 creator A5016203121 @default.
- W2945194311 creator A5021230577 @default.
- W2945194311 creator A5021252950 @default.
- W2945194311 creator A5028089976 @default.
- W2945194311 creator A5031807627 @default.
- W2945194311 creator A5036307012 @default.
- W2945194311 creator A5037711823 @default.
- W2945194311 creator A5037857715 @default.
- W2945194311 creator A5039323932 @default.
- W2945194311 creator A5042038610 @default.
- W2945194311 creator A5042720583 @default.
- W2945194311 creator A5044098219 @default.
- W2945194311 creator A5047610706 @default.
- W2945194311 creator A5047781911 @default.
- W2945194311 creator A5054654929 @default.
- W2945194311 creator A5055981872 @default.
- W2945194311 creator A5057784304 @default.
- W2945194311 creator A5060426000 @default.
- W2945194311 creator A5066115254 @default.
- W2945194311 creator A5068628918 @default.
- W2945194311 creator A5072269465 @default.
- W2945194311 creator A5072838339 @default.
- W2945194311 creator A5074190689 @default.
- W2945194311 creator A5075936171 @default.
- W2945194311 creator A5083075419 @default.
- W2945194311 creator A5083845752 @default.
- W2945194311 date "2019-04-17" @default.
- W2945194311 modified "2023-10-18" @default.
- W2945194311 title "Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes" @default.
- W2945194311 cites W1550434764 @default.
- W2945194311 cites W1553644198 @default.
- W2945194311 cites W1795141977 @default.
- W2945194311 cites W1849849028 @default.
- W2945194311 cites W1866236914 @default.
- W2945194311 cites W1915004688 @default.
- W2945194311 cites W1965019589 @default.
- W2945194311 cites W1970755629 @default.
- W2945194311 cites W1970801073 @default.
- W2945194311 cites W1970891016 @default.
- W2945194311 cites W1973305610 @default.
- W2945194311 cites W1987722665 @default.
- W2945194311 cites W1993732086 @default.
- W2945194311 cites W1996009087 @default.
- W2945194311 cites W1997963513 @default.
- W2945194311 cites W1998000773 @default.
- W2945194311 cites W2000083752 @default.
- W2945194311 cites W2018752786 @default.
- W2945194311 cites W2021391040 @default.
- W2945194311 cites W2025843494 @default.
- W2945194311 cites W2028147887 @default.
- W2945194311 cites W2033680684 @default.
- W2945194311 cites W2035774221 @default.
- W2945194311 cites W2074422164 @default.
- W2945194311 cites W2080459785 @default.
- W2945194311 cites W2097618972 @default.
- W2945194311 cites W2100031402 @default.
- W2945194311 cites W2114980923 @default.
- W2945194311 cites W2123292607 @default.
- W2945194311 cites W2126178372 @default.
- W2945194311 cites W2129349305 @default.
- W2945194311 cites W2146975106 @default.
- W2945194311 cites W2147952959 @default.
- W2945194311 cites W2148874084 @default.
- W2945194311 cites W2155437022 @default.
- W2945194311 cites W2157153664 @default.
- W2945194311 cites W2160185049 @default.
- W2945194311 cites W2162194231 @default.
- W2945194311 cites W2167383172 @default.
- W2945194311 cites W2313767788 @default.
- W2945194311 cites W2320876948 @default.
- W2945194311 cites W2328960066 @default.
- W2945194311 cites W2394983080 @default.
- W2945194311 cites W2398118418 @default.
- W2945194311 cites W2413230071 @default.
- W2945194311 cites W2577194681 @default.
- W2945194311 cites W2581927130 @default.
- W2945194311 cites W2612168985 @default.
- W2945194311 cites W4211006558 @default.
- W2945194311 doi "https://doi.org/10.1186/s13023-019-1046-0" @default.
- W2945194311 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6471801" @default.
- W2945194311 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30995915" @default.
- W2945194311 hasPublicationYear "2019" @default.
- W2945194311 type Work @default.
- W2945194311 sameAs 2945194311 @default.
- W2945194311 citedByCount "19" @default.
- W2945194311 countsByYear W29451943112019 @default.
- W2945194311 countsByYear W29451943112020 @default.
- W2945194311 countsByYear W29451943112021 @default.
- W2945194311 countsByYear W29451943112022 @default.
- W2945194311 countsByYear W29451943112023 @default.
- W2945194311 crossrefType "journal-article" @default.
- W2945194311 hasAuthorship W2945194311A5008282209 @default.
- W2945194311 hasAuthorship W2945194311A5013383606 @default.
- W2945194311 hasAuthorship W2945194311A5014670177 @default.
- W2945194311 hasAuthorship W2945194311A5016203121 @default.