ReviewGenetics in medicine : official journal of the American College of Medical Genetics2010
The genetics and clinical manifestations of telomere biology disorders.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
152 citing papers in PubMed, 1 synthesis or guideline pooled it, 253 citations in OpenAlex.
- Genome-wide association study identifies multiple risk loci for renal cell carcinoma.Nature communications · 2017Pooled it
- Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.Haematologica · 2023Trial
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- A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Trial
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.Human genetics · 2013Trial
- Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.European journal of human genetics : EJHG · 2026Article
- A Military Veteran with Pulmonary Fibrosis, Hepatic Cirrhosis, Bone Marrow Dysfunction and Shortened Telomeres Found to Have GAVE, a Potential Unsuspected Consequence of Telomere Spectrum Disorder.Journal of clinical medicine · 2026Article
- Liver-associated findings and outcomes in a telomere biology disorders clinic.Hepatology communications · 2026Article
- RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nature communications · 2026Article
- N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.Molecular genetics & genomic medicine · 2026Article
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis.Nature communications · 2026Article
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- Cirrhosis of Liver in Patients With Dyskeratosis Congenita: A Report of Two Cases.Clinical case reports · 2026Article
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- Association of leukocyte telomere length with anti-HBsAg antibody titer in Hepatitis-B recovered patients from the Pakistani population.BMC infectious diseases · 2025Article
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Sex Differences in Telomere Length in a Bat With Female-Biased Longevity.Ecology and evolution · 2025Article
- Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita.Orphanet journal of rare diseases · 2025Article
92 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Telomere biology disorders are a complex set of illnesses defined by the presence of very short telomeres. Individuals with classic dyskeratosis congenita have the most severe phenotype, characterized by the triad of nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. More significantly, these individuals are at very high risk of bone marrow failure, cancer, and pulmonary fibrosis. A mutation in one of six different telomere biology genes can be identified in 50–60% of these individuals. DKC1, TERC, TERT, NOP10, and NHP2 encode components of telomerase or a telomerase-associated factor and TINF2, a telomeric protein. Progressively shorter telomeres are inherited from generation to generation in autosomal dominant dyskeratosis congenita, resulting in disease anticipation. Up to 10% of individuals with apparently acquired aplastic anemia or idiopathic pulmonary fibrosis also have short telomeres and mutations in TERC or TERT. Similar findings have been seen in individuals with liver fibrosis or acute myelogenous leukemia. This report reviews basic aspects of telomere biology and telomere length measurement, and the clinical and genetic features of those disorders that constitute our current understanding of the spectrum of illness caused by defects in telomere biology. We also suggest a grouping schema for the telomere disorders.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.