Associated Papers
Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.
Gomes WR et al.
Blood Advances, 2025
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Tejero E et al.
Orphanet Journal of Rare Diseases, 2025
RecQ helicase expression in patients with telomeropathies.
Silva JPL et al.
Molecular Biology Reports, 2024
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Fernández-Varas B et al.
Human Molecular Genetics, 2024
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Zhang D et al.
The European Respiratory Journal, 2022
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
30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG et al.
Orphanet Journal of Rare Diseases, 2019
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