Background: Genetic skin diseases in cattle are rare.
Clinical Summary: A 7-week-old female Holstein calf was presented with epidermal lesions and alopecia in the caudal region of the ears and on the neck, as well as deep bilateral ulcerative lesions on the palmar aspect of the metacarpi and dorsal aspect of the right metacarpus. Clinical, pathological and histopathological examination of the calf was suggestive of a subepidermal vesicular dermatosis. Genetic analysis identified a de novo non-sense variant affecting the aspartate dehydrogenase domain containing (ASPDH) gene, which might be associated with the formation of subepidermal vesicles in this case.
Conclusion And Clinical Importance: The observed phenotype in the calf may represent a novel form of a vesicular skin disorder. Haploinsufficiency of the ASPDH gene might be considered as a possible cause.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/vde.12827 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Investigating the diagnostic and prognostic significance of genes related to fatty acid metabolism in hepatocellular carcinoma.
BMC Gastroenterol
November 2024
Department of Clinical Laboratory, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200092, China.
Background: Hepatocellular carcinoma (HCC) is one of the most prevalent and lethal cancers worldwide, with death rates increasing by approximately 2-3% per year. The high mortality and poor prognosis of HCC are primarily due to inaccurate early diagnosis and lack of monitoring when liver transplantation is not feasible. Fatty acid (FA) metabolism is a critical metabolic pathway that provides energy and signaling factors in cancer, particularly in HCC, and promotes malignancy.
View Article and Find Full Text PDFCharacterization and Application of an Aspartate Dehydrogenase from Achromobacter denitrificans.
Appl Biochem Biotechnol
September 2024
The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, Jiangsu, China.
A novel gene encoding aspartate dehydrogenase (ASPDH) has been discovered in Achromobacter denitrificans. The product of this gene has a strict dependence on NADH and demonstrated significant reductive activity towards not only oxaloacetate (OAA) but also 2-ketobutyric acid. Further enzymatic characterization revealed the kinetic parameters of ASPDH for OAA and 2-ketobutyric acid were as follows: K values of 4.
View Article and Find Full Text PDFIdentification of Potential Prognostic Markers and Key Therapeutic Targets in Hepatocellular Carcinoma Using Weighted Gene Co-Expression Network Analysis: A Systems Biology Approach.
Iran J Biotechnol
July 2022
Department of Molecular Medicine, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.
Background: As the most prevalent form of liver cancer, hepatocellular carcinoma (HCC) ranks the fifth highest cause of cancer-related death worldwide. Despite recent advancements in diagnostic and therapeutic techniques, the prognosis for HCC is still unknown.
Objectives: This study aimed to identify potential genes contributing to HCC pathogenicity.
Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?
Vet Dermatol
June 2020
Vetsuisse Faculty, Institute of Genetics, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
Background: Genetic skin diseases in cattle are rare.
Clinical Summary: A 7-week-old female Holstein calf was presented with epidermal lesions and alopecia in the caudal region of the ears and on the neck, as well as deep bilateral ulcerative lesions on the palmar aspect of the metacarpi and dorsal aspect of the right metacarpus. Clinical, pathological and histopathological examination of the calf was suggestive of a subepidermal vesicular dermatosis.
Analyses of inter-individual variations of sperm DNA methylation and their potential implications in cattle.
BMC Genomics
November 2019
USDA-ARS, Animal Genomics and Improvement Laboratory, Beltsville, MD, 20705, USA.
Background: DNA methylation has been shown to be involved in many biological processes, including X chromosome inactivation in females, paternal genomic imprinting, and others.
Results: Based on the correlation patterns of methylation levels of neighboring CpG sites among 28 sperm whole genome bisulfite sequencing (WGBS) data (486 × coverage), we obtained 31,272 methylation haplotype blocks (MHBs). Among them, we defined conserved methylated regions (CMRs), variably methylated regions (VMRs) and highly variably methylated regions (HVMRs) among individuals, and showed that HVMRs might play roles in transcriptional regulation and function in complex traits variation and adaptive evolution by integrating evidence from traditional and molecular quantitative trait loci (QTL), and selection signatures.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!