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
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
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
The role of telomere binding molecules for normal and abnormal hematopoiesis.
Hosokawa K et al.
International Journal of Hematology, 2018
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Khincha PP et al.
The European Respiratory Journal, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
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
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