ReviewRNA biology2016
The molecular genetics of the telomere biology disorders.
Review in RNA biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers.
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
105 citing papers in PubMed, 162 citations in OpenAlex.
- Gynaecological and reproductive health of women with telomere biology disorders.British journal of haematology · 2021Trial
- Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Pediatric blood & cancer · 2018Trial
- Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.American journal of hematology · 2016Trial
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.BMJ open respiratory research · 2026Article
- Early-Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant.Clinical case reports · 2026Article
- Bringing the rare into sight: applications of haploidentical stem cell transplantation in the treatment of rare diseases.Bone marrow transplantation · 2026Review
- A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita.Diagnostics (Basel, Switzerland) · 2026Article
- Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis.BMJ case reports · 2026Article
- Specificity of the stabilizing interaction between intrinsically disordered protein sequences and G-quadruplexes in RNA.Nucleic acids research · 2026Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.Journal of medical case reports · 2025Article
- Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.Familial cancer · 2024Article
- Article
- Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.Hepatology communications · 2024Article
- Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.Archives of dermatological research · 2024Review
- 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.Human molecular genetics · 2024Article
- Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
45 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
1 author at 1 institution in 1 country.
Funding
Abstract
The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis.
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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.