Associated Papers
Dyskeratosis Congenita Due to a de novo TINF2 Mutation.
Jain A
Qjm : Monthly Journal of the Association of Physicians, 2026
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
[Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia].
Peng YL et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2025
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.
Alonso-González A et al.
The Lancet. Respiratory Medicine, 2025
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
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
RecQ helicase expression in patients with telomeropathies.
Silva JPL et al.
Molecular Biology Reports, 2024
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
Telomeric repeat-containing RNA is dysregulated in acute myeloid leukemia.
Catto LFB et al.
Blood Advances, 2023
CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response.
Westin ER et al.
G3 (bethesda, Md.), 2023
A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.
Khakzad M et al.
Iranian Biomedical Journal, 2023
Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review.
Geng J et al.
Hematology (amsterdam, Netherlands), 2022
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts.
Lu Y et al.
Hematology (amsterdam, Netherlands), 2021
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 2021
Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita.
Roake CM et al.
Human Pathology (new York), 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 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
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The role of telomere binding molecules for normal and abnormal hematopoiesis.
Hosokawa K et al.
International Journal of Hematology, 2018
A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.
Du H et al.
Medicine, 2018
[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].
Wan Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
Pereboeva L et al.
Plos One, 2016
Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation.
Isoda T et al.
Journal of Pediatric Hematology/oncology, 2013
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.
Gleeson M et al.
British Journal of Haematology, 2012
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
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 in children with severe aplastic anemia.
Du HY et al.
Pediatric Blood & Cancer, 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