46 publication(s) trouvée(s)
Article scientifique
Noonan Syndrome in South Africa: Clinical and Molecular Profiles
Noonan Syndrome (NS) is a common autosomal dominant multisystem disorder, caused by mutations in more than 10 genes in the …
Article scientifique
Longitudinal Population Dynamics of Staphylococcus aureus in the Nasopharynx During the First Year of Life
Background S. aureus colonization is a risk factor for invasive disease. Few studies have used strain genotype data to study …
Article scientifique
Comparative Analysis of the Complete Mitochondrial Genomes for Development Application
This present research work reports the comparative analysis of the entire nucleotide sequence of mitochondrial genomes of Serranochromis robustus and …
Article scientifique
Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis
Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterised by muscle weakness. The pathogenic antibodies are most …
Article scientifique
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
Background Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder in DNA repair system (NER), characterized by severe sunburns, development …
Article scientifique
Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population
Genotype imputation is a powerful tool for increasing statistical power in an association analysis. Meta-analysis of multiple study datasets also …
Article scientifique
New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis
The etiology of common complex diseases is multifactorial, involving both genetic, and environmental factors. A role for mitochondrial dysfunction and …
Article scientifique
Association of Copy Number Variation at Intron 3 of HMGA2 With Navel Length in Bos indicus
Navel injuries caused by friction against the pasture can promote infection, reproductive problems and costly treatments in beef cattle raised …
Article scientifique
Putative Loci Causing Early Embryonic Mortality in Duroc Swine
Lethal recessive variants are usually maintained at relatively low frequencies in populations as heterozygous state. However, they can cause prenatal …
Article scientifique
Use of High Density Single Nucleotide Polymorphism (SNP) Arrays to Assess Genetic Diversity and Population Structure of Dairy Cattle in Smallholder Dairy Systems: The Case of Girinka Programme in Rwanda
In most smallholder dairy programmes, farmers are not fully benefitting from the genetic potential of their dairy cows. This is …
Article scientifique
Multi-Tissue Transcriptome Profiling of North American Derived Atlantic Salmon
The availability of a reference genome assembly for Atlantic salmon, Salmo salar, SNP genotyping platforms and low cost sequencing are …
Article scientifique
Diagnosing Emerging Fungal Threats: A One Health Perspective
Emerging fungal pathogens are a growing threat to global health, ecosystems, food security, and the world economy. Over the last …
Article scientifique
Genetic Improvement in South African Livestock: Can Genomics Bridge the Gap Between the Developed and Developing Sectors?
South Africa (SA) holds a unique position on the African continent with a rich diversity in terms of available livestock …
Article scientifique
Corrigendum: Genetic Diversity of Seven Cattle Breeds Inferred Using Copy Number Variations
[This corrects the article DOI: 10.3389/fgene.2018.00163.].
Article scientifique
Genetic Diversity of Seven Cattle Breeds Inferred Using Copy Number Variations
Copy number variations (CNVs) comprise deletions, duplications and insertions found within the genome larger than 50bp in size. CNVs are …
Article scientifique
Milk Composition for Admixed Dairy Cattle in Tanzania
It is well established that milk composition is affected by the breed and genotype of a cow. The present study …
Article scientifique
Disruption of Claudin-1 Expression by miRNA-182 Alters the Susceptibility to Viral Infectivity in HCV Cell Models
HCV entry involves a complex interplay between viral and host molecules. During post-binding interactions, the viral E2 complexes with CD81 …
Article scientifique
Genetic Diversity and Population Structure of F3:6 Nebraska Winter Wheat Genotypes Using Genotyping-By-Sequencing
The availability of information on the genetic diversity and population structure in wheat (Triticum aestivum L.) breeding lines can help …
Article scientifique
Transcriptional Innate Immune Response of the Developing Chicken Embryo to Newcastle Disease Virus Infection
Traditional approaches to assess the immune response of chickens to infection are through animal trials, which are expensive, require enhanced …
Article scientifique
First Chromosomal Analysis in Hepsetidae (Actinopterygii, Characiformes): Insights into Relationship between African and Neotropical Fish Groups
Hepsetidae is a small fish family with only the genus Hepsetus, with six described species distributed throughout the South, Central …