Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Wang H et al.
Nucleic Acids Research, 2023
CST in maintaining genome stability: Beyond telomeres.
Lyu X et al.
Dna Repair, 2021
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Shen W et al.
British Journal of Haematology, 2019
CTC1-STN1 coordinates G- and C-strand synthesis to regulate telomere length.
Gu P et al.
Aging Cell, 2018
Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
Wang Y et al.
Nucleic Acids Research, 2018
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
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 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
Molecular mechanisms of telomere biology disorders.
Grill S et al.
The Journal of Biological Chemistry, 0
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