O019 Studying telomere biology and genomic instability in gliomas
Sign Up to like & getrecommendations! Published in 2023 at "British Journal of Surgery"
DOI: 10.1093/bjs/znad101.019
Abstract: Glioblastoma (GBM) is the most aggressive primary brain cancer. Identifying novel markers which stratify patients and predict response to targeted therapies is a priority. Telomeres are caps on chromosome ends protecting them from aberrant DNA… read more here.
Keywords: genomic instability; studying telomere; telomere biology; o019 studying ... See more keywords
Telomere biology disorders: from dyskeratosis congenita and beyond.
Sign Up to like & getrecommendations! Published in 2024 at "Postgraduate medical journal"
DOI: 10.1093/postmj/qgae102
Abstract: Defective telomerase function or telomere maintenance causes genomic instability. Alterations in telomere length and/or attrition are the primary features of rare diseases known as telomere biology disorders or telomeropathies. Recent advances in the molecular basis… read more here.
Keywords: congenita beyond; dyskeratosis congenita; biology disorders; biology ... See more keywords
Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients
Sign Up to like & getrecommendations! Published in 2024 at "British Journal of Haematology"
DOI: 10.1111/bjh.19767
Abstract: Data on haematological features of telomere biology disorders (TBD) remain scarce. We describe haematological, extra‐haematological characteristics and prognosis of 127 genetically confirmed TBD patients diagnosed after the age of 15. Ninety‐three index cases and 34… read more here.
Keywords: biology disorders; haematological features; biology; telomere biology ... See more keywords
Different phenotypes with different endings—Telomere biology disorders and cancer predisposition with long telomeres
Sign Up to like & getrecommendations! Published in 2024 at "British Journal of Haematology"
DOI: 10.1111/bjh.19851
Abstract: Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life‐threatening conditions,… read more here.
Keywords: predisposition long; cancer; biology disorders; cancer predisposition ... See more keywords
Integrating telomere biology into the ecology and evolution of natural populations: Progress and prospects
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Ecology"
DOI: 10.1111/mec.16768
Abstract: Telomeres are fascinating stretches of protective DNA that cap the chromosome ends of eukaryotes. Without telomeres, during cell division and DNA replication, DNA repair proteins would misread the ends of chromosomes and attempt to repair… read more here.
Keywords: ecology; natural populations; telomere biology; ecology evolution ... See more keywords
Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex DMD Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of child neurology"
DOI: 10.1177/08830738251383989
Abstract: We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, including… read more here.
Keywords: disorder neurodevelopmental; neurology; biology; biology disorder ... See more keywords
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations.
Sign Up to like & getrecommendations! Published in 2024 at "Blood"
DOI: 10.1182/blood.2024025023
Abstract: Telomere biology disorders (TBD), caused by pathogenic germline variants in telomere-related genes, present with multi-organ disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBD is… read more here.
Keywords: cancer; biology disorders; clonal landscape; biology ... See more keywords
Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.
Sign Up to like & getrecommendations! Published in 2025 at "Blood"
DOI: 10.1182/blood.2024026735
Abstract: Immunodeficiency in telomere biology disorders (TBDs) has been described in pediatric patients with severe phenotypes, but less characterized within the broader TBD spectrum. We collected complete blood counts, lymphocyte subsets, and infection history from 88… read more here.
Keywords: biology disorders; biology; clinical molecular; molecular features ... See more keywords
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2022007029
Abstract: Key Points A patient with a severe form of telomere biology disorder has compound heterozygous variants in TERT that interact functionally. The functional interaction between alleles explains the much more extreme phenotype in the proband… read more here.
Keywords: biology disorder; compound heterozygous; telomere biology; functional interaction ... See more keywords
Parental clinical manifestation association with newborn immune senescence and telomere biology in Pakistan
Sign Up to like & getrecommendations! Published in 2025 at "BMC Research Notes"
DOI: 10.1186/s13104-025-07498-4
Abstract: This study investigates the association of parental clinical manifestations with newborn telomere biology and immune senescence markers, utilising 204 parent–newborn triads in Karachi, Pakistan. The demographic data collection was followed by quantification of telomere length… read more here.
Keywords: telomere biology; parental clinical; biology; association ... See more keywords
Telomere biology: from disorders to hematological diseases
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1167848
Abstract: Variations in the length of telomeres and pathogenic variants involved in telomere length maintenance have been correlated with several human diseases. Recent breakthroughs in telomere biology knowledge have contributed to the identification of illnesses named… read more here.
Keywords: disorders hematological; telomere biology; physiology; hematological diseases ... See more keywords