Associated Papers
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
Schratz KE et al.
The Journal of Clinical Investigation, 2021
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
Sun C et al.
The Embo Journal, 2020
Regulation of human telomerase in homeostasis and disease.
Roake CM et al.
Nature Reviews. Molecular Cell Biology, 2020
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
Toufektchan E et al.
Science Advances, 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 Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.
Michalski JE et al.
Journal of Inflammation Research, 2020
TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.
Pike AM et al.
Molecular and Cellular Biology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The role of telomere binding molecules for normal and abnormal hematopoiesis.
Hosokawa K et al.
International Journal of Hematology, 2018
The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
Frank AK et al.
Plos Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.
Frescas D et al.
Genes & Development, 2014
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS 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
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
Yang D et al.
The Journal of Biological Chemistry, 2011
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Du HY et al.
Blood, 2009
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Savage SA et al.
American Journal of Human Genetics, 2008
Dysfunctional telomeres and hematological disorders.
Fiorini E et al.
Differentiation; Research in Biological Diversity, 0
Molecular mechanisms of telomere biology disorders.
Grill S et al.
The Journal of Biological Chemistry, 0