Associated Papers
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
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
POT1 recruits and regulates CST-Polα/Primase at human telomeres.
Cai SW et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Germline variants drive myelodysplastic syndrome in young adults.
Feurstein S et al.
Leukemia, 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
Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
Wang Y et al.
Nucleic Acids Research, 2018
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.
Mansukhani S et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
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 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