Evidence map›Paper›PMID 29491033›Full record

ArticleG3 (Bethesda, Md.)2018

A Nonsense Variant in the

Vincent Lepori, Franziska Mühlhause, Adrian C Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek and 3 more

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

Article in G3 (Bethesda, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

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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 4 institutions in 2 countries.

Vincent LeporiInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland.ORCID 0000-0001-5628-0484
Franziska MühlhauseVeterinary Clinic for Small Animals Elmer-Kornberg-Schanen, 54294 Trier, Germany.
Adrian C SewellBiocontrol, Laboratory for Veterinary Diagnostics, 55218 Ingelheim, Germany.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland.
Nils JanzenScreening-Labor Hannover, 30430, Germany.
Marco RosatiSection of Clinical & Comparative Neuropathology, Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, 80539 Munich, Germany.
Filipe Miguel Maximiano Alves de SousaVeterinary Public Health Institute, Vetsuisse Faculty, University of Bern, 3097 Liebefeld, Switzerland.
Aurélie TschoppVeterinary Public Health Institute, Vetsuisse Faculty, University of Bern, 3097 Liebefeld, Switzerland.
Gertraud SchüpbachVeterinary Public Health Institute, Vetsuisse Faculty, University of Bern, 3097 Liebefeld, Switzerland.
Kaspar MatiasekSection of Clinical & Comparative Neuropathology, Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, 80539 Munich, Germany.
Andrea TipoldDepartment of Small Animal Medicine and Surgery, University of Veterinary Medicine Hannover, 30559, Germany.
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Switzerland tosso.leeb@vetsuisse.unibe.ch.ORCID 0000-0003-0553-4880
Marion KornbergVeterinary Clinic for Small Animals Elmer-Kornberg-Schanen, 54294 Trier, Germany.
University of Bern · CHLudwig-Maximilians-Universität München · DEUniversity of Veterinary Medicine Hannover, Foundation · DEMedizinische Hochschule Hannover · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the

Indexed as

Acyl-CoA Dehydrogenase, Long-ChainAnimalsBase SequenceBiopsyCodon, NonsenseDogsFemaleGenetic Association StudiesMaleMuscular DiseasesPedigreePhysical Conditioning, AnimalSequence Analysis, DNAAcyl-CoA Dehydrogenase, Long-ChainCodon, Nonsenseanimal modelbeta-oxidationcanis lupus familiarisdogmetabolismmyopathyvery long-chain acyl-CoA dehydrogenase deficiencywhole genome sequencing

Identifiers

PMID29491033
PMCPMC5940147
OpenAlexW2788725034

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.