Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.

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

5 citing papers in PubMed.

1. 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 · 2016
   Trial
2. Exploration of the potential causative genes for inflammatory bowel disease: Transcriptome-wide association analysis, Mendelian randomization analysis and Bayesian colocalisation.Heliyon · 2024
   Article
3. A DNA-Methylated Sight on Autoimmune Inflammation Network across RA, pSS, and SLE.Journal of immunology research · 2018
   Article
4. Stop pulling my strings - what telomeres taught us about the DNA damage response.Nature reviews. Molecular cell biology · 2016
   Review
5. Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.Cellular and molecular life sciences : CMLS · 2014
   Review

Corrections and comments

• Comment on
  Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.2013
• Comment on
  Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.2013

Authors and funding

1 author.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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