ReviewBritish journal of haematology2015
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Review in British journal of haematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 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
75 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.Journal of intellectual disability research : JIDR · 2025Pooled it
- Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Pediatric blood & cancer · 2018Trial
- The potential of gene therapy to rescue telomeric and extratelomeric defects in X-linked dyskeratosis congenita.Molecular therapy. Advances · 2026Article
- Telomere Length in Celiac Disease in a Population-Based Cohort: A HUNT Study.Clinical and translational gastroenterology · 2026Article
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Neuroimaging in inborn errors of immunity: More than infections.Neuroradiology · 2026Review
- Telomere Length Abnormality: Investigating Approaches and Correlations with Cancer, Bone Marrow Failure and Hematological Malignancies.Biomedicines · 2025Review
- Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.Nucleic acids research · 2025Article
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.Science advances · 2025Article
- C-Terminal Extended Domain-Independent Telomere Maintenance: Modeling the Function of TIN2 Isoforms inInternational journal of molecular sciences · 2025Article
- Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.The Journal of clinical investigation · 2025Article
- Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes.Case reports in genetics · 2025Article
- Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.British journal of haematology · 2025Review
- Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.Archives of dermatological research · 2024Review
- A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.PloS one · 2024Article
- Advances in understanding telomerase assembly.Biochemical Society transactions · 2023Review
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.Nature communications · 2023Article
- [Progeroid syndromes : Aging, skin aging, and mechanisms of progeroid syndromes].Dermatologie (Heidelberg, Germany) · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
15 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
5 authors.
Funding
Abstract
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology genes have been reported to cause HH in about 60% of the HH patients, but the genetic defects in the rest of the patients are still unknown. Understanding the aetiology of HH and its diverse manifestations is challenging because of the complexity of telomere biology and the multiple telomeric and non-telomeric functions played by telomere-associated proteins in processes such as telomere replication, telomere protection, DNA damage response and ribosome and spliceosome assembly. Here we review the known clinical complications, molecular defects and germline mutations associated with HH, and elucidate possible mechanistic explanations and remaining questions in our understanding of the disease.
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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.