Evidence map›Paper›PMID 36246608›Full record

ArticleFrontiers in genetics2022

Rüdiger Schultz, Varpu Elenius, Mahmoud R Fassad, Grace Freke, Andrew Rogers, Amelia Shoemark, Tiina Koistinen, Mai A Mohamed, Jacqueline S Y Lim, Hannah M Mitchison and 1 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2022. 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
3.2field-weighted citation impact, top 7% 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, 20 citations in OpenAlex.

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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

11 authors at 9 institutions in 3 countries.

Rüdiger SchultzAllergy Centre, Tampere University Hospital, Tampere, Finland.
Varpu EleniusDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland.
Mahmoud R FassadGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Grace FrekeGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Andrew RogersPCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospita, London, United Kingdom.
Amelia ShoemarkPCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospita, London, United Kingdom.
Tiina KoistinenDepartment of Otorhinolaryngology, Head and Neck Surgery, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland.
Mai A MohamedGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Jacqueline S Y LimGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Hannah M MitchisonGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Anu I SironenGreat Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Great Ormond Street Hospital · GBKuopio University Hospital · FINatural Resources Institute Finland · FIRoyal Brompton Hospital · GBTampere University Hospital · FIUniversity College London · GBUniversity of Dundee · GBUniversity of Turku · FIZagazig University · EG

Funding

Wellcome Trust
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell that are responsible for removal of mucus from the airways and organizing internal organ positioning during embryonic development. PCD is caused by mutations in genes coding for structural or assembly proteins in motile cilia. Thus far mutations in over 50 genes have been identified and these variants explain around 70% of all known cases. Population specific genetics underlying PCD has been reported, thus highlighting the importance of characterizing gene variants in different populations for development of gene-based diagnostics. In this study, we identified a recurrent loss-of-function mutation c.198_200delinsCC in

Indexed as

CFAP300diagnosticsdynein arm preassemblymotile ciliaprimary ciliary dyskinesia

Identifiers

PMID36246608
PMCPMC9561811
OpenAlexW4298144581

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.