Evidence map›Paper›PMID 32906717›Full record

ArticleGenes2020

Sarah Kiener, Aurore Laprais, Elizabeth A Mauldin, Vidhya Jagannathan, Thierry Olivry, Tosso Leeb

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. 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
0.9field-weighted citation impact, top 30% 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, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. IndependentGenes · 2023
    Article
  4. Article
  5. Review
  6. Article
  7. AGenes · 2020
    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

6 authors at 4 institutions in 3 countries.

Sarah KienerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-2714-2370
Aurore LapraisThe Ottawa Animal Emergency and Specialty Hospital, Ottawa, ON K1K 4C1, Canada.
Elizabeth A MauldinSchool of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Thierry OlivryDepartment of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC 27607, USA.ORCID 0000-0003-1399-0034
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0003-0553-4880
University of Bern · CHNorth Carolina State University · USOttawa Hospital · CAUniversity of Pennsylvania · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In a highly inbred Australian Shepherd litter, three of the five puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. Histopathological examinations demonstrated clefting of the epidermis from the underlying dermis within or just below the basement membrane, which led to a tentative diagnosis of junctional epidermolysis bullosa (JEB) with autosomal recessive inheritance. Endoscopy in one affected dog also demonstrated separation between the epithelium and underlying tissue in the gastrointestinal tract. As a result of the severity of the clinical signs, all three dogs had to be euthanized. We sequenced the genome of one affected puppy and compared the data to 73 control genomes. A search for private variants in 37 known candidate genes for skin fragility phenotypes revealed a single protein-changing variant,

Indexed as

Mutation, MissenseAnimalsAustraliaCell Adhesion MoleculesDogsEpidermolysis Bullosa, JunctionalFemaleKalininMaleWhole Genome SequencingCell Adhesion MoleculesKalininCanis lupus familiarisdermatologydoggenodermatosislamininprecision medicineskinwgswhole genome sequence

Identifiers

PMID32906717
PMCPMC7565164
OpenAlexW3083449611

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.