Evidence map›Paper›PMID 36140701›Full record

ArticleGenes2022

Sarah Østergård Jensen, Matthias Christen, Veronica Rondahl, Christopher T Holland, Vidhya Jagannathan, Tosso Leeb, Urs Giger

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. EuropeanVeterinary sciences · 2024
    Article
  2. Molecular mechanisms of polarized transport to the apical plasma membrane.Frontiers in cell and developmental biology · 2024
    Review
  3. AnGenes · 2022
    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

7 authors at 3 institutions in 2 countries.

Sarah Østergård JensenClinical Pathology Laboratory, The Swedish University of Agricultural Sciences, 750 07 Uppsala, Sweden.ORCID 0000-0002-9299-8909
Matthias ChristenInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0003-3275-5929
Veronica RondahlBioVet AB, 192 21 Sollentuna, Sweden.
Christopher T HollandMerewether Veterinary Hospital, Suite 2, 25 Llewellyn St, Merewether, NSW 2291, Australia.ORCID 0000-0002-1801-8298
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0003-0553-4880
Urs GigerVetsuisse Faculty, University of Zürich, Winterthurerstrasse 260, 8057 Zürich, Switzerland.ORCID 0000-0002-4770-4107
University of Bern · CHSwedish University of Agricultural Sciences · SEUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary myopathies are well documented in dogs, whereas hereditary dyserythropoietic anemias are rarely seen. The aim of this study was to further characterize the clinical and clinicopathological features of and to identify the causative genetic variant for a dyserythropoietic anemia and myopathy syndrome (DAMS) in English springer spaniel dogs (ESSPs). Twenty-six ESSPs, including five dogs with DAMS and two puppies that died perinatally, were studied. Progressive weakness, muscle atrophy-particularly of the temporal and pelvic muscles-trismus, dysphagia, and regurgitation due to megaesophagus were observed at all ages. Affected dogs had a non-regenerative, microcytic hypochromic anemia with metarubricytosis, target cells, and acanthocytes. Marked erythroid hyperplasia and dyserythropoiesis with non-orderly maturation of erythrocytes and inappropriate microcytic metarubricytosis were present. Muscle biopsies showed centralized nuclei, central pallor, lipocyte infiltrates, and fibrosis, which was consistent with centronuclear myopathy. The genome sequencing of two affected dogs was compared to 782 genomes of different canine breeds. A homozygous frameshift single-base deletion in

Indexed as

AnemiaDog DiseasesMuscular DiseasesAnimalsDogsFrameshift MutationGenetic Association StudiesHumansMiceSyndromeanimal modelcanineCanis lupus familiariscardiomyopathycentronuclear myopathymegaesophagusmetarubricytosismicrocytosisperinatal deathprecision medicine

Identifiers

PMID36140701
PMCPMC9498568
OpenAlexW4293531561

What Socratic 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 Socratic graph.