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
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.
Zlateska B et al.
Pediatric Pulmonology, 2015
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS et al.
Clinical Genetics, 2012
Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex.
Xin ZT et al.
Clinical Genetics, 2012
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T et al.
Clinical Genetics, 2012
A role for heterochromatin protein 1γ at human telomeres.
Canudas S et al.
Genes & Development, 2011
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ et al.
Blood, 2008
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