Centre for Genomics and Child Health: Recent submissions
Now showing items 41-60 of 835
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Near-fatal and fatal asthma and air pollution: are we missing an opportunity to ask key questions?
(2023-11-10)There is an increasing body of evidence supporting the link between asthma attacks and air pollution in children. To our knowledge, there has only been one reported case of a fatal asthma attack in a child associated with ... -
Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.
(2023-10-23)Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide ... -
Vitamin C activates young LINE-1 elements in mouse embryonic stem cells via H3K9me3 demethylation.
(2023-10-16)BACKGROUND: Vitamin C (vitC) enhances the activity of 2-oxoglutarate-dependent dioxygenases, including TET enzymes, which catalyse DNA demethylation, and Jumonji-domain histone demethylases. The epigenetic remodelling ... -
Severe acute malnutrition promotes bacterial binding over proinflammatory cytokine secretion by circulating innate immune cells.
(2023-11-03)Children with severe acute malnutrition (SAM) have high infectious mortality and morbidity, implicating defects in their immune defenses. We hypothesized that circulating innate immune cells from children (0 to 59 months) ... -
The N-terminus of Stag1 is required to repress the 2C program by maintaining rRNA expression and nucleolar integrity.
(Elsevier, 2023-10-02)Our understanding of how STAG proteins contribute to cell identity and disease have largely been studied from the perspective of chromosome topology and protein-coding gene expression. Here, we show that STAG1 is the ... -
Influence of autozygosity on common disease risk across the phenotypic spectrum.
(2023-09-20)Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (FROH) and common diseases in ... -
A cross-country qualitative analysis of teachers' perceptions of asthma care in sub-Saharan Africa.
(2023-09-23)Asthma is the most common chronic respiratory disease among school-going adolescents worldwide. However, the burden of severe asthma is highest in Sub-Saharan Africa. This study aimed to explore teachers' perceptions of ... -
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
(2023-08)BACKGROUND: People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, ... -
Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models.
(2021-03-11)Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer's disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome ...