Evidence map›Paper›PMID 35845273›Full record

ArticleEJHaem2021

A novel cause of

Jonathan W Arthur, Hilda A Pickett, Pasquale M Barbaro, Tatjana Kilo, Raja S Vasireddy, Traude H Beilharz, David R Powell, Emma L Hackett, Bruce Bennetts, Julie A Curtin and 5 more

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

Article in EJHaem, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 49% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. A novel cause ofEJHaem · 2021
    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

15 authors at 4 institutions in 2 countries.

Jonathan W ArthurChildren's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0003-3615-7352
Hilda A PickettChildren's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-9840-4841
Pasquale M BarbaroChildren's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-2628-9653
Tatjana KiloHaematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
Raja S VasireddyHaematology Department Children's Hospital at Westmead Westmead New South Wales Australia.ORCID https://orcid.org/0000-0003-2849-4981
Traude H BeilharzMonash Biomedicine Discovery Institute Department of Biochemistry and Molecular Biology, Monash University Clayton Victoria Australia.ORCID https://orcid.org/0000-0002-8942-9502
David R PowellMonash Bioinformatics Platform Monash University Clayton Victoria Australia.
Emma L HackettDepartment of Molecular Genetics Children's Hospital Westmead Westmead New South Wales Australia.
Bruce BennettsDepartment of Molecular Genetics Children's Hospital Westmead Westmead New South Wales Australia.
Julie A CurtinHaematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
Kristi JonesDisciplines of Genetic Medicine and Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0003-3833-9846
John ChristodoulouDisciplines of Genetic Medicine and Child and Adolescent Health, Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-8431-0641
Roger R ReddelChildren's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-6302-6107
Juliana TeoHaematology Department Children's Hospital at Westmead Westmead New South Wales Australia.
Tracy M BryanChildren's Medical Research Institute Faculty of Medicine and Health, University of Sydney Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-7990-5501
The University of Sydney · AUChildren's Hospital at Westmead · AUDiscovery Institute · USMelbourne Bioinformatics · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Telomere biology disorders (TBDs), including dyskeratosis congenita (DC), are a group of rare inherited diseases characterized by very short telomeres. Mutations in the components of the enzyme telomerase can lead to insufficient telomere maintenance in hematopoietic stem cells, resulting in the bone marrow failure that is characteristic of these disorders. While an increasing number of genes are being linked to TBDs, the causative mutation remains unidentified in 30-40% of patients with DC. There is therefore a need for whole genome sequencing (WGS) in these families to identify novel genes, or mutations in regulatory regions of known disease-causing genes. Here we describe a family in which a partial deletion of the 3' untranslated region (3' UTR) of

Indexed as

DKC1dyskeratosis congenitapolyadenylationtelomerasetelomeres

Identifiers

PMID35845273
PMCPMC9175968
OpenAlexW3124568884

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.