Publications by authors named "L E Bird"

sp. CBR-F is a bacterial species isolated from a water treatment plant targeting for per- and poly-fluoroalkyl substances, a difficult-to-degrade family of anthropogenic compounds. Here, we report a complete genome for sp.

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  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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  • Angelman syndrome (AS) is a rare genetic disorder impacting neurodevelopment, with an estimated prevalence of 1 in 20,000, but lacks comprehensive data on life expectancy and death rates due to a lack of diagnostic codes until 2018.
  • A social media initiative by AS caregivers gathered data on 220 deaths, revealing respiratory illness as the leading cause, followed by accidents and seizures, with sudden unexpected death in sleep (SUDS) also being a notable concern.
  • The study found that 91% of individuals with AS have epilepsy, suggesting that some SUDS cases could relate to sudden unexpected deaths in epilepsy (SUDEP), and highlights the need for more research despite limitations
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