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| http://dx.doi.org/10.1093/nar/19.19.5445-a | DOI Listing |
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Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFGenotyping of strains isolated in Japan during 2019 and 2020: spread of gene type 2c and 2j variant strains.
Front Microbiol
June 2023
Department of Bacteriology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
We characterized 118 strains isolated from three areas of Japan (Saitama, Kanagawa, and Osaka) during the period of 2019 and 2020. Genotyping of the gene in these strains revealed that 29 of them were type 1 lineage (29/118, 24.6%), while 89 were type 2 lineage (89/118, 75.
View Article and Find Full Text PDFPolymorphism in neutrophil cytosolic factor 4 (NCF4) of dairy cows had mastitis in previous lactations, and the relationship with the respiratory burst.
Res Vet Sci
July 2023
Department of Clinical Sciences, School of Veterinary Medicine, Shiraz University, Shiraz, Iran. Electronic address:
Article Synopsis
- This study investigates the role of single-nucleotide polymorphisms (SNPs) in the NCF4 gene, specifically g.18174 A > G and g.18270 C > T, in relation to bovine mastitis and neutrophil function.
- The research involved 160 dairy cattle, using PCR-RFLP techniques to identify SNPs and flow cytometry to assess the respiratory burst of neutrophils.
- Results showed that the g.18174 A > G SNP decreased respiratory burst capacity but had no significant correlation with clinical mastitis cases.
Development of multiplex reverse transcription-polymerase chain reaction for differentiation of strains of infectious bursal disease virus and primary screening of the virus in Thailand.
Vet World
December 2021
Avian Health research Unit, Department of Veterinary Medicine, Faculty of Veterinary Science, Chulalongkorn University, Bangkok 10330, Thailand.
Background And Aim: A new set of primers (400 base pairs partial of VP2) was designed and used for the infectious bursal disease virus (IBDV) screening test. Using this new primer set, the enzymes and were unable to differentiate the field and vaccine strains. As a result, a new simple, cheap, and appropriate tool for strain differentiation is required.
View Article and Find Full Text PDFGenetic variation of ABCB1 (rs1128503, rs1045642) and CYP2E1 rs3813867 with the duration of tuberculosis therapy: a pilot study among tuberculosis patients in Indonesia.
BMC Res Notes
July 2021
Center of Excellence in Higher Education for Pharmaceutical Care Innovation, Universitas Padjadjaran, Jatinangor, Bandung, Indonesia.
Objective: The risk of contracting tuberculosis (TB) and the efficacy of TB therapy are affected by several factors, including genetic variation among populations. In the Indonesian population, data on the genes involved in drug transport and metabolism of TB therapy are limited. The aim of this study was to identify the genetic profile of the ABCB1 gene (rs1128503 and rs1045642) and CYP2E1 gene (rs3813867) in Indonesians with TB.
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