Evidence map›Paper›PMID 33081289›Full record

ArticleGenes2020

Michaela Drögemüller, Anna Letko, Kaspar Matiasek, Vidhya Jagannathan, Daniele Corlazzoli, Marco Rosati, Konrad Jurina, Susanne Medl, Thomas Gödde, Stefan Rupp and 3 more

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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 40% 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, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

13 authors at 3 institutions in 2 countries.

Michaela DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
Anna LetkoInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0002-6521-1285
Kaspar MatiasekSection of Clinical & Comparative Neuropathology, Centre for Clinical Veterinary Medicine, Ludwig Maximilians Universität Munich, 80539 Munich, Germany.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0002-8155-0041
Daniele CorlazzoliNeurology & Neurosurgery Unit, Policlinico Veterinario Roma Sud, 00173 Roma, Italy.
Marco RosatiSection of Clinical & Comparative Neuropathology, Centre for Clinical Veterinary Medicine, Ludwig Maximilians Universität Munich, 80539 Munich, Germany.
Konrad JurinaSmall Animal Hospital, Tierklinik Haar, 85540 Haar, Germany.
Susanne MedlSmall Animal Hospital, Anicura Kleintierklinik Babenhausen, 87727 Babenhausen, Germany.
Thomas GöddeSmall Animal Referral Practice, Veterinary Health Centre, 83451 Piding, Germany.
Stefan RuppSmall Animal Hospital, Tierklinik Hofheim, 65719 Hofheim, Germany.
Andrea FischerSection of Neurology, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-Universität, 80539 Munich, Germany.
Alejandro Luján Feliu-PascualAúna Especialidades Veterinarias, 46980 Valencia, Spain.ORCID 0000-0002-3555-9248
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0001-9773-522X
University of Bern · CHLudwig-Maximilians-Universität München · DEUniversity of Hohenheim · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sporadic occurrence of juvenile-onset necrotizing encephalopathy (SNE) has been previously reported in Yorkshire terriers. However, so far, no causative genetic variant has been found for this breed-specific form of suspected mitochondrial encephalomyopathy. Affected dogs showed gait abnormalities, central visual defects, and/or seizures. Histopathological analysis revealed the presence of major characteristics of human Leigh syndrome and SNE in Alaskan huskies. The aim of this study was to characterize the genetic etiology of SNE-affected purebred Yorkshire terriers. After SNP genotyping and subsequent homozygosity mapping, we identified a single loss-of-function variant by whole-genome sequencing in the canine

Indexed as

Loss of Function MutationAnimalsBreedingDogsFemaleLeigh DiseaseMaleMembrane Transport ProteinsPedigreeWhole Genome SequencingMembrane Transport ProteinsSLC19A3 protein, humanCanis familiarisneurometabolic disorderprecision medicinerare diseasewhole-genome sequencing

Identifiers

PMID33081289
PMCPMC7650533
OpenAlexW3094273477

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.