ArticleBlood advances2016
Extended clinical and genetic spectrum associated with biallelic
Article in Blood advances, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
18 citing papers in PubMed, 28 citations in OpenAlex.
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- RTEL1 is upregulated in gastric cancer and promotes tumor growth.Journal of cancer research and clinical oncology · 2024Article
- A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.PloS one · 2024Article
- Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Regulator of telomere elongation helicase 1 gene and its association with malignancy.Cancer reports (Hoboken, N.J.) · 2023Review
- Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.Journal of neurology · 2022Observational
- Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.Blood · 2022Article
- RTEL1 influences the abundance and localization of TERRA RNA.Nature communications · 2021Article
- An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.Journal of clinical immunology · 2020Article
- Twenty years of t-loops: A case study for the importance of collaboration in molecular biology.DNA repair · 2020Review
- Current understanding of extrachromosomal circular DNA in cancer pathogenesis and therapeutic resistance.Journal of hematology & oncology · 2020Review
- CD8Journal of clinical laboratory analysis · 2020Article
- Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.Nucleic acids research · 2020Article
- SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.Nature structural & molecular biology · 2020Article
- A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.Human genetics · 2019Article
- Reply to 'Comment on: Evidence of innate lymphoid cell redundancy in humans'.Nature immunology · 2018Article
- HeterozygousBlood advances · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required for proper telomere replication and stability. In particular, it has been postulated that RTEL1 is involved in the opening of the T-loop during telomere replication to avoid sudden telomere deletion and telomere circle (T-circle) formation. In humans, biallelic
Identifiers
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.