Evidence map›Paper›PMID 37681469›Full record

ArticleJournal of veterinary internal medicine

A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.

Joana G P Jacinto, Peter Wohlsein, Irene M Häfliger, Michael Karl, Michael Pohlers, Lutz Plobner, Walter Grünberg, Cord Drögemüller

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of veterinary internal medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 3 institutions in 3 countries.

Joana G P JacintoDepartment of Veterinary Medical Sciences, University of Bologna, Bologna, Switzerland.ORCID https://orcid.org/0000-0002-6438-7975
Peter WohlseinDepartment of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.ORCID https://orcid.org/0000-0001-9184-4134
Irene M HäfligerInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.ORCID https://orcid.org/0000-0002-5648-963X
Michael KarlAgrobiogen GmbH, Hilgertshausen, Germany.
Michael PohlersAgrobiogen GmbH, Hilgertshausen, Germany.
Lutz PlobnerAgrobiogen GmbH, Hilgertshausen, Germany.
Walter GrünbergClinic for Cattle, University of Veterinary Medicine Hannover, Hannover, Germany.ORCID https://orcid.org/0000-0002-6139-6219
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.ORCID https://orcid.org/0000-0001-9773-522X
Agrobiogen (Germany) · DEUniversity of Bern · CHUniversity of Veterinary Medicine Hannover, Foundation · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hepatic fibrinogen storage disease (HFSD) was diagnosed in a 5-month-old Wagyu calf with a history of recurrent respiratory disease. It was characterized by lethargy, dehydration, acidemia, and increased liver enzyme activities. Histologically, disseminated hepatocytes were swollen and showed a single, sharply demarcated, faintly eosinophilic cytoplasmic inclusion with a ground-glass appearance, with the nucleus in an eccentric position. Cytoplasmic inclusions did not stain with the periodic acid-Schiff (PAS) reaction. Using a rabbit polyclonal antibody against fibrinogen, the cytoplasmic vacuoles in the hepatocytes stained intensely. Electron microscopy disclosed hepatocytes with membrane-bound cytoplasmic inclusions filled with fine granular material interspersed with a few coarse-grained electron-dense granules. A trio whole-genome sequencing approach identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%. This is a report of a DGKG-related recessive inherited disorder in cattle and adds DGKG to the list of candidate genes for HFSD in other species.

Indexed as

Cattle DiseasesLiver DiseasesMetabolic DiseasesAnimalsCattleFibrinogenHepatocytesMutation, MissenseFibrinogenBos taurusdevelopmentprecision medicinerare diseasestorage diseaseWGS

Identifiers

PMID37681469
PMCPMC10658517
OpenAlexW4386530081

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.