Evidence map›Paper›PMID 31569816›Full record

ArticleGenes2019

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic

Chloe Angwin, Angela F Brady, Marina Colombi, David J P Ferguson, Rebecca Pollitt, F Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, Fleur S van Dijk

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

Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.6field-weighted citation impact, top 15% 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, 15 citations in OpenAlex.

  1. Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  2. Review
  3. Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome.Frontiers in cell and developmental biology · 2022
    Review
  4. 3d phase-contrast nanotomography of unstained human skin biopsies may identify morphological differences in the dermis and epidermis between subjects.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2021
    Article
  5. Review
  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

10 authors at 5 institutions in 3 countries.

Chloe AngwinNational Complex Ehlers-Danlos Syndrome Service London, North West Health Care NHS Trust, Harrow HA1 3UJ, UK. chloeangwin@nhs.net.
Angela F BradyNational Complex Ehlers-Danlos Syndrome Service London, North West Health Care NHS Trust, Harrow HA1 3UJ, UK. angela.brady@nhs.net.
Marina ColombiDivision of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marina.colombi@unibs.it.ORCID 0000-0002-3105-5990
David J P FergusonNuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK. david.ferguson@ndcls.ox.ac.uk.ORCID 0000-0001-5045-819X
Rebecca PollittConnective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield S10 2TQ, UK. rebeccapollitt@nhs.net.
F Michael PopeDepartment of Dermatology, Chelsea and Westminster Hospital, London, SW10 9NH UK. fmandhpope@googlemail.com.
Marco RitelliDivision of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marco.ritelli@unibs.it.ORCID 0000-0002-7025-2495
Sofie SymoensCenter for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium. Sofie.Symoens@UGent.be.
Neeti GhaliNational Complex Ehlers-Danlos Syndrome Service London, North West Health Care NHS Trust, Harrow HA1 3UJ, UK. neeti.ghali@nhs.net.ORCID 0000-0003-2847-1376
Fleur S van DijkNational Complex Ehlers-Danlos Syndrome Service London, North West Health Care NHS Trust, Harrow HA1 3UJ, UK. fleur.dijk@nhs.net.
London North West Healthcare NHS Trust · GBUniversity of Brescia · ITChelsea and Westminster Hospital · GBGhent University Hospital · BEOxford Brookes University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two probands are reported with pathogenic and likely pathogenic

Indexed as

AdultCodon, NonsenseCollagen Type VDermisEhlers-Danlos SyndromeFemaleFrameshift MutationHumansMiddle AgedPedigreeCodon, NonsenseCOL5A1 protein, humanCollagen Type Vclassical Ehlers-Danlos SyndromeCOL5A1collagen flowerselectron microscopy

Identifiers

PMID31569816
PMCPMC6826538
OpenAlexW2976981631

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.