News Help Institutional access
Back to results
Bibliographic record · Consultation and access
Artículo

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

Joana G. P. Jacinto et al · Oxford University Press · 2023

Open access available
Quick overview. Review the resource’s basic details, then access the content using the main button. This page shows only the information needed to identify, cite, and open the work.
Author / responsible party
Joana G. P. Jacinto et al
Publisher
Oxford University Press
Year
2023
ISSN
0891-6640
ISSN
0891-6640
Language
English
Serial publication

A de novo nonsense variant in the DMD gene associated with X‐linked dystrophin‐deficient muscular dystrophy in a cat

This serial publication contains 149 related contents.
View contents

Resource access

Open the content from the main option or choose another available source.

DOAJ DOAJ Articles
Entrar por DOAJ
Main access

Open access available

Recurso identificado como acceso abierto, sin confirmar automáticamente si es texto completo directo.
Open resource

Summary

Descripción general del contenido del recurso.

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.

How to cite

Elegí el formato que necesitás y copiá la referencia al portapapeles.

APA 7

al, J. G. P. J. E. (2023). A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle. https://doi.org/10.1111/jvim.16865

MLA

al, Joana G. P. Jacinto et. "A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle." 2023. https://doi.org/10.1111/jvim.16865.

Chicago

al, Joana G. P. Jacinto et. 2023. "A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.". https://doi.org/10.1111/jvim.16865.

Harvard

al, J. G. P. J. E. 2023, A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle, Oxford University Press, available at: https://doi.org/10.1111/jvim.16865 [Accessed 5 Aug. 2026].

Share and print

Save the record, copy its permanent link, or print it as a PDF.

Export reference

You can export the record in common formats for use in a reference manager.

RIS BibTeX

Resource details

Bibliographic information to help confirm that this is the correct material.

Title
A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle
Author / contributors
Joana G. P. Jacinto et al
Publisher
Oxford University Press
Publication year
2023
ISSN
0891-6640
ISSN
0891-6640
Language
English

Subjects

Explore related resources through these subjects.

Bos taurus; development; precision medicine; rare disease; storage disease; WGS
Copied