Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 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
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 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
Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy.
Asano M et al.
American Journal of Ophthalmology Case Reports, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Zhang MJ et al.
Brain and Behavior, 2021
Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita.
Shin S et al.
Pediatric Transplantation, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
Sun C et al.
The Embo Journal, 2020
Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome.
McCaffrey J et al.
British Journal of Haematology, 2020
Revesz syndrome revisited.
Karremann M et al.
Orphanet Journal of Rare Diseases, 2020
Telomere dysfunction activates YAP1 to drive tissue inflammation.
Chakravarti D et al.
Nature Communications, 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
A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
He H et al.
Thyroid : Official Journal of the American Thyroid Association, 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
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
Clinical features of dyskeratosis congenita in mainland China: case reports and literature review.
Li F et al.
International Journal of Hematology, 2019
Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita.
Watanabe K et al.
Pediatric Blood & Cancer, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
Nelson ND et al.
Molecular and Cellular Biology, 2018
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A et al.
European Journal of Human Genetics : Ejhg, 2018
The role of telomere binding molecules for normal and abnormal hematopoiesis.
Hosokawa K et al.
International Journal of Hematology, 2018
Revesz syndrome masquerading as traumatic retinal detachment.
Moussa K et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing.
Monoi A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2017
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Khincha PP et al.
The European Respiratory Journal, 2017
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
The molecular genetics of the telomere biology disorders.
Bertuch AA
Rna Biology, 2016
Reduced intensity conditioning regimen with fludarabine, cyclophosphamide, low dose TBI and alemtuzumab leading to successful unrelated umbilical cord stem cell engraftment and survival in two children with dyskeratosis congenita.
Brown M et al.
Bone Marrow Transplantation, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
Frank AK et al.
Plos Genetics, 2015
Successful T-cell-depleted haploidentical hematopoietic stem cell transplantation in a child with dyskeratosis congenita after a fludarabine-based conditioning regimen.
Algeri M et al.
Journal of Pediatric Hematology/oncology, 2015
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
Alder JK et al.
Chest, 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
Allo-SCT in a patient with CRMCC with aplastic anemia using a reduced intensity conditioning regimen.
Asai D et al.
Bone Marrow Transplantation, 2012
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
Dyskeratosis congenita as a disorder of telomere maintenance.
Nelson ND et al.
Mutation Research, 2012