Evidence map›Paper›PMID 34769003›Full record

ArticleInternational journal of molecular sciences2021

Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood.

Pia Michler, Anne Schedel, Martha Witschas, Ulrike Anne Friedrich, Rabea Wagener, Juha Mehtonen, Triantafyllia Brozou, Maria Menzel, Carolin Walter, Dalileh Nabi and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Guideline
  2. Article
  3. GermlineGenes · 2024
    Review
  4. Article
  5. Genetics and Epigenetics in Complex Diseases.International journal of molecular sciences · 2023
    Article
  6. Article
  7. 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

19 authors at 9 institutions in 2 countries.

Pia MichlerPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Anne SchedelPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Martha WitschasPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Ulrike Anne FriedrichPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Rabea WagenerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.
Juha MehtonenInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
Triantafyllia BrozouDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.
Maria MenzelPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Carolin WalterInstitute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
Dalileh NabiDepartment of Neuropediatrics Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.
Glen PearceInstitute of Physiological Chemistry, Medical Faculty "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Miriam ErlacherDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany.
Gudrun GöhringDepartment of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
Martin DugasInstitute of Medical Informatics, Heidelberg University Hospital, 69120 Heidelberg, Germany.ORCID 0000-0001-9740-0788
Merja HeinäniemiInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
Arndt BorkhardtDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.ORCID 0000-0002-6121-4737
Friedrich StölzelHematology and Oncology, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.ORCID 0000-0003-0653-5332
Julia HauerPediatric Hematology and Oncology, Department of Pediatrics, University Hospital "Carl Gustav Carus", TU Dresden, 01307 Dresden, Germany.
Franziska AuerNational Center for Tumor Diseases (NCT), 01307 Dresden, Germany.ORCID 0000-0002-1193-6002
University Hospital Carl Gustav Carus · DEHeinrich Heine University Düsseldorf · DENational Center for Tumor Diseases · DEUniversity of Eastern Finland · FIGerman Cancer Research Center · DEHeidelberg University · DEHumboldt-Universität zu Berlin · DEMedizinische Hochschule Hannover · DEUniversity of Münster · DE

Funding

ERA PerMed GEPARDEuropean Research Council Stg 85222
6 · The paper itself

Abstract

While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199*) in the shelterin complex gene

Indexed as

AdultDNA DamageGenetic Predisposition to DiseaseGerm CellsGerm-Line MutationHEK293 CellsHumansLeukemia, Myeloid, AcuteMyeloid CellsMyeloproliferative DisordersRNA, MessengerShelterin ComplexTelomereTelomere-Binding ProteinsYoung AdultPOT1 protein, humanRNA, MessengerShelterin ComplexTelomere-Binding Proteinsacute myeloid leukemiagermline cancer predispositionpediatricPOT1shelterin complextrio sequencing

Identifiers

PMID34769003
PMCPMC8583981
OpenAlexW3210745935

What OpenQuestion holds

Textmetadata
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.