Associated Papers
CTC1 mutation causing cerebro-retinal microangiopathy with calcifications and cysts type 1, masquerading as TORCH Infection.
Gowda VK et al.
Bmj Case Reports, 2026
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Wang H et al.
Nucleic Acids Research, 2023
Cryo-EM structure of the human CST-Polα/primase complex in a recruitment state.
Cai SW et al.
Nature Structural & Molecular Biology, 2022
Pol α-primase dependent nuclear localization of the mammalian CST complex.
Kelich JM et al.
Communications Biology, 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
Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.
Lin H et al.
Journal of the Neurological Sciences, 2017
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
Romaniello R et al.
Journal of Child Neurology, 2013
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 conserved telomere maintenance component 1, cause Coats plus.
Anderson BH et al.
Nature Genetics, 2012
Molecular mechanisms of telomere biology disorders.
Grill S et al.
The Journal of Biological Chemistry, 0
Select a paper to view details