Associated Papers
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.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
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.
Kelich J et al.
The Journal of Experimental Medicine, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Riquelme J et al.
Hormone Research in Paediatrics, 2021
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
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
Takai H et al.
Genes & Development, 2016
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
Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Walne AJ et al.
Haematologica, 2013
CTC1 Mutations in a patient with dyskeratosis congenita.
Keller RB et al.
Pediatric Blood & Cancer, 2012
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
Coats Plus Syndrome in a Premature Infant, With a Focus on Management.
Sears AE et al.
Journal of Vitreoretinal Diseases, 0
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