Publications by authors named "Nancy J Hall"
Childhood-onset essential hypertension (COEH) is an uncommon form of hypertension that manifests in childhood or adolescence and, in the United States, disproportionately affects children of African ancestry. The etiology of COEH is unknown, but its childhood onset, low prevalence, high heritability, and skewed ancestral demography suggest the potential to identify rare genetic variation segregating in a Mendelian manner among affected individuals and thereby implicate genes important to disease pathogenesis. However, no COEH genes have been reported to date.
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- * Evidence suggests GHRd3 was nearly fixed in ancient human and Neanderthal populations but has recently decreased in frequency in East Asia, possibly due to its role in protecting against severe malnutrition.
- * A novel mouse model showed that calorie restriction leads to changes in gene expression linked to GHRd3, impacting weight and sex characteristics, hinting that its allele frequency has evolved in response to resource availability throughout human history.
Article Synopsis
- Scientists studied how differences in left and right sides during embryo development can lead to birth defects that affect organ placement.
- They looked at the DNA of 323 people with these issues and found some rare gene changes that might be connected to these problems.
- The research suggests that there are many genes involved and it can be really complex, which means more work needs to be done to understand why these defects happen.
Red blood cell (RBC) transfusion remains a critical therapeutic intervention in sickle cell disease (SCD); however, the apparent propensity of some patients to regularly develop RBC alloantibodies after transfusion presents a significant challenge to finding compatible blood for so-called alloimmunization responders. Predisposing genetic loci have long been thought to contribute to the responder phenomenon, but to date, no definitive loci have been identified. We undertook a genome-wide association study of alloimmunization responder status in 267 SCD multiple transfusion recipients, using genetic estimates of ancestral admixture to bolster our findings.
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