Evidence map›Paper›PMID 26909595›Full record

ArticleOncotarget2016

DNA methylation in PRDM8 is indicative for dyskeratosis congenita.

Carola I Weidner, Qiong Lin, Carina Birkhofer, Uwe Gerstenmaier, Andrea Kaifie, Martin Kirschner, Heiko Bruns, Stefan Balabanov, Arne Trummer, Clemens Stockklausner and 7 more

Open access · diamondAbstract read
In one paragraph

Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.2field-weighted citation impact, top 20% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 17 citations in OpenAlex.

  1. InvestigatingBrain sciences · 2025
    Article
  2. Article
  3. Article
  4. Article
  5. Integrated Analysis of Genetic Abnormalities of the Histone Lysine Methyltransferases in Prostate Cancer.Medical science monitor : international medical journal of experimental and clinical research · 2019
    Article
  6. Review
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 8 institutions in 2 countries.

Carola I WeidnerHelmholtz-Institute for Biomedical Engineering, RWTH Aachen University Medical Faculty, Aachen, Germany.
Qiong LinHelmholtz-Institute for Biomedical Engineering, RWTH Aachen University Medical Faculty, Aachen, Germany.
Carina BirkhoferVarionostic GmbH, Ulm, Germany.
Uwe GerstenmaierVarionostic GmbH, Ulm, Germany.
Andrea KaifieDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, RWTH Aachen University Medical Faculty, Aachen, Germany.
Martin KirschnerDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, RWTH Aachen University Medical Faculty, Aachen, Germany.
Heiko BrunsDepartment of Internal Medicine 5-Hematology/Oncology, University Hospital Erlangen, Erlangen, Germany.
Stefan BalabanovDivision of Hematology, University Hospital Zurich, Zurich, Switzerland.
Arne TrummerDepartment of Hematology, Hemostasis, Oncology, and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
Clemens StockklausnerDepartment of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany.
Britta HöchsmannInstitute of Transfusion Medicine, University of Ulm, Ulm, Germany.
Hubert SchrezenmeierInstitute of Transfusion Medicine, University of Ulm, Ulm, Germany.
Marcin WlodarskiDepartment of Pediatrics, Hematology and Oncology, University of Freiburg, Freiburg, Germany.
Jens PanseDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, RWTH Aachen University Medical Faculty, Aachen, Germany.
Tim H BrümmendorfDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, RWTH Aachen University Medical Faculty, Aachen, Germany.
Fabian BeierDepartment of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, RWTH Aachen University Medical Faculty, Aachen, Germany.
Wolfgang WagnerHelmholtz-Institute for Biomedical Engineering, RWTH Aachen University Medical Faculty, Aachen, Germany.
RWTH Aachen University · DEGerman Red Cross · DEHeidelberg University · DEMedizinische Hochschule Hannover · DEUniversitätsklinikum Erlangen · DEUniversität Ulm · DEUniversity Hospital of Zurich · CHUniversity of Freiburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dyskeratosis congenita (DKC) is associated with impaired telomere maintenance and with clinical features of premature aging. In this study, we analysed global DNA methylation (DNAm) profiles of DKC patients. Age-associated DNAm changes were not generally accelerated in DKC, but there were significant differences to DNAm patterns of healthy controls, particularly in CpG sites related to an internal promoter region of PR domain containing 8 (PRDM8). Notably, the same genomic region was also hypermethylated in aplastic anemia (AA) - another bone marrow failure syndrome. Site-specific analysis of DNAm level in PRDM8 with pyrosequencing and MassARRAY validated aberrant hypermethylation in 11 DKC patients and 27 AA patients. Telomere length, measured by flow-FISH, did not directly correlate with DNAm in PRDM8. Therefore the two methods may be complementary to also identify patients with still normal telomere length. In conclusion, blood of DKC patients reveals aberrant DNAm patterns, albeit age-associated DNAm patterns are not generally accelerated. Aberrant hypermethylation is particularly observed in PRDM8 and this may support identification and classification of bone marrow failure syndromes.

Indexed as

DNA MethylationAnemia, AplasticBone Marrow DiseasesBone Marrow Failure DisordersCarrier ProteinsCase-Control StudiesDNA-Binding ProteinsDyskeratosis CongenitaEpigenesis, GeneticHemoglobinuria, ParoxysmalHistone MethyltransferasesHumansNuclear ProteinsCarrier ProteinsDNA-Binding ProteinsHistone MethyltransferasesNuclear ProteinsPRDM8 protein, humanaplastic anemiabone marrow failureDNA methylationdyskeratosis congenitaepigeneticGerotarget

Identifiers

PMID26909595
PMCPMC4905437
OpenAlexW2295645208

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.