Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.
Poot M
Cytogenetic and Genome Research, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
Faria JP et al.
Breast Cancer Research and Treatment, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Wang H et al.
Nucleic Acids Research, 2023
Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager.
Agrawal KU et al.
American Journal of Ophthalmology Case Reports, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 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
Genetic testing for inherited ocular conditions in a developing country.
Zanolli M et al.
Ophthalmic Genetics, 2020
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Shen W et al.
British Journal of Haematology, 2019
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F et al.
Molecular Genetics & Genomic Medicine, 2018
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 conserved telomere maintenance component 1, cause Coats plus.
Anderson BH et al.
Nature Genetics, 2012