Evidence map›Paper›PMID 37998386›Full record

ArticleCells2023

Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.

Ben O Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C Ringshausen

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

Article in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. [Primary ciliary dyskinesia].Innere Medizin (Heidelberg, Germany) · 2024
    Review
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

10 authors at 1 institution in 1 country.

Ben O StaarDepartment of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), 30625 Hannover, Germany.
Jan HegermannBiomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), 30625 Hannover, Germany.
Bernd AuberDepartment of Human Genetics, Hannover Medical School (MHH), 30625 Hannover, Germany.ORCID 0000-0003-1880-291X
Raphael EwenDepartment of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), 30625 Hannover, Germany.
Sandra von HardenbergDepartment of Human Genetics, Hannover Medical School (MHH), 30625 Hannover, Germany.
Ruth OlmerBiomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), 30625 Hannover, Germany.
Isabell PinkDepartment of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), 30625 Hannover, Germany.ORCID 0000-0002-3267-9615
Jessica RademacherDepartment of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), 30625 Hannover, Germany.
Martin WetzkeBiomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), 30625 Hannover, Germany.
Felix C RingshausenDepartment of Respiratory Medicine and Infectious Diseases, Hannover Medical School (MHH), 30625 Hannover, Germany.ORCID 0000-0001-9084-4968
Medizinische Hochschule Hannover · DE

Funding

German Center for Lung Research 82DZL002A1Novartis Pharma AG (Germany) N/A
6 · The paper itself

Abstract

Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain significance in approximately 30% of tested individuals. We aimed to assess genotype-phenotype correlations in adults with bronchiectasis, clinical suspicion of PCD, and inconclusive whole-exome sequencing results using transmission electron microscopy (TEM) and ciliary image averaging by the PCD Detect software. We recruited 16 patients with VUS in

Indexed as

Kartagener SyndromeAdultCiliaGenotypeHumansMicroscopy, Electron, TransmissionMutationNM23 Nucleoside Diphosphate KinasesNM23 Nucleoside Diphosphate KinasesNME5 protein, humanbronchiectasisgenotype–phenotype correlationprimary ciliary dyskinesiatransmission electron microscopyultrastructurewhole-exome sequencing

Identifiers

PMID37998386
PMCPMC10670349
OpenAlexW4388795299

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.