ArticleOrphanet journal of rare diseases2019
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Telomerase activation in the treatment of aging or degenerative diseases: a systematic review.Molecular and cellular biochemistry · 2021Pooled it
- Investigation of telomere related gene mutations in idiopathic pulmonary fibrosis.Molecular biology reports · 2020Trial
- Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.BMJ open respiratory research · 2026Article
- Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.Frontiers in immunology · 2026Review
- Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.Orphanet journal of rare diseases · 2025Article
- Telomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.Diagnostics (Basel, Switzerland) · 2025Article
- TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.Journal of medical case reports · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.Human molecular genetics · 2024Article
- A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.Hereditas · 2023Article
- Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.Human molecular genetics · 2023Article
- Clinical and laboratory results in vaginal wall restoration using a fractional-pixel-COLasers in medical science · 2023Article
- Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.Multidisciplinary respiratory medicine · 2023Article
- Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.Frontiers in medicine · 2023Review
- Associations between shortened telomeres and rheumatoid arthritis-associated interstitial lung disease among U.S. Veterans.Respiratory medicine · 2022Article
- Article
- Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases.International journal of hematology · 2021Article
- Identification and characterization of novelCold Spring Harbor molecular case studies · 2021Article
- Lung Transplant Improves Survival and Quality of Life Regardless of Telomere Dysfunction.Frontiers in medicine · 2021Article
- Germline mutation ofScience advances · 2020Article
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Authors and funding
29 authors at 16 institutions in 1 country.
Funding
Abstract
backgroundTelomeres 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.
methodsThis 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.
resultsForty-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.
conclusionNovel 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.
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