ArticleBritish journal of haematology2019
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Article in British journal of haematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Germline variants in acquired aplastic anemia: current knowledge and future perspectives.Haematologica · 2024Review
- A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.Hereditas · 2023Article
- CST-Polα/Primase: the second telomere maintenance machine.Genes & development · 2023Review
- Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.Multidisciplinary respiratory medicine · 2023Article
- Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.Cancers · 2022Article
- Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.Scientific reports · 2021Article
- miR-376a Provokes Rectum AdenocarcinomaFrontiers in cell and developmental biology · 2021Article
- Review
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Compound heterozygous germline mutations in CTC1 gene have been found in patients with atypical dyskeratosis congenita (DC), whereas heterozygous carriers are unaffected. Through screening of a large cohort of adult patients with acquired bone marrow failure syndromes, in addition to a DC case, we have also found extremely rare or novel heterozygous deleterious germline variants of CTC1 in patients with aplastic anaemia (AA; n = 5), paroxysmal nocturnal haemoglobinuria (PNH; n = 3) and myelodysplastic syndrome (MDS; n = 2). A compound heterozygous case of AA showed clonal evolution. Our results suggest that some of the inherited CTC1 variants may represent predisposition factors for acquired bone marrow failure.
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Registered trials
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