Associated Papers
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.
Tometten M et al.
Blood Advances, 2025
39938003 (PubMed )
Supplement: BLOODA_ADV-2024-014632-mmc1.pdf
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Wang H et al.
Nucleic Acids Research, 2023
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Crosstalk between CST and RPA regulates RAD51 activity during replication stress.
Lei KH et al.
Nature Communications, 2021
The structure of human CST reveals a decameric assembly bound to telomeric DNA.
Lim CJ et al.
Science (new York, N.y.), 2020
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
Wang Y et al.
Nucleic Acids Research, 2018
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
Gu P et al.
Aging Cell, 2013
Molecular basis of telomere syndrome caused by CTC1 mutations.
Chen LY et al.
Genes & Development, 2013
Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Walne AJ et al.
Haematologica, 2013
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A et al.
American Journal of Human Genetics, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH et al.
Nature Genetics, 2012
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