Publications by authors named "A Nater"
The naked mole-rat (NMR; ) is a eusocial subterranean rodent with a highly unusual set of physiological traits that has attracted great interest amongst the scientific community. However, the genetic basis of most of these traits has not been elucidated. To facilitate our understanding of the molecular mechanisms underlying NMR physiology and behaviour, we generated a long-read chromosomal-level genome assembly of the NMR.
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- A genomic database encompassing all eukaryotic species on Earth is crucial for scientific advancements, yet most species lack genomic data.
- The Earth BioGenome Project (EBP) was initiated in 2018 by global scientists to compile high-quality reference genomes for approximately 1.5 million recognized eukaryotic species.
- The European Reference Genome Atlas (ERGA) launched a Pilot Project to create a decentralized model for reference genome production by testing it on 98 species, providing valuable insights into scalability, equity, and inclusiveness for genomic projects.
Article Synopsis
- - Japanese encephalitis virus (JEV) is primarily spread by mosquitoes and can lead to severe illness in humans, with the potential for direct transmission observed in pigs, raising concerns about outbreaks in unvaccinated pig populations.
- - Experiments involving JEV passaging in pigs revealed increased viral replication and immune responses, but did not lead to enhanced direct transmission between pigs.
- - Genetic analysis during the experiments identified mutations that may confer advantages to the virus in pigs, highlighting the evolution of viral quasispecies without improving transmission efficiency.
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Nephrol Dial Transplant
August 2024
Article Synopsis
- - The study aimed to investigate the genetic factors involved in kidney stone formation among adults, particularly those with a history of kidney stones, by analyzing the genetic makeup of participants from the Bern Kidney Stone Registry.
- - Whole exome sequencing revealed that 2.9% of kidney stone formers had identifiable Mendelian kidney stone diseases, with cystinuria being the most common, while 8.1% had variants associated with nephrolithiasis.
- - Findings indicated that individuals with Mendelian kidney stone diseases experienced their first stone event at a younger age and exhibited different stone compositions compared to those without genetic diagnoses, highlighting the complexity of genetic contributions to nephrolithiasis.