Publications by authors named "C A Specht"

Premise: There is a general lack of consensus on the best practices for filtering of single-nucleotide polymorphisms (SNPs) and whether it is better to use SNPs or include flanking regions (full "locus") in phylogenomic analyses and subsequent comparative methods.

Methods: Using genotyping-by-sequencing data from 22 species, we assessed the effects of SNP vs. locus usage and SNP retention stringency.

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Article Synopsis
  • Mutations causing premature termination codons (PTCs) in protein-coding genes lead to severe, often life-threatening genetic diseases that currently lack approved treatments.
  • Scientists are exploring suppressor tRNAs (sup-tRNAs) that could potentially translate these PTCs and restore protein synthesis, but developing efficient and specific sup-tRNAs is challenging.
  • This research introduces a new approach using a naturally occurring pyrrolysine tRNA (tRNAPyl) to create a series of engineered suppressor tRNAs (PASS-tRNAs), which successfully restored protein synthesis in both bacterial and human cells, showing promise for treating genetic disorders like BRCA1 mutations in cancer.
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Eperua is a genus of Neotropical trees that forms a major component of tropical lowland forests in Amazonia, especially in the Guiana Shield and on white-sand forests. One species occurs in the Cerrado-Caatinga ecotone, and the genus also inhabits riverine and terra firme forests. Species in Eperua exhibit one of two drastically different floral architectures and inflorescence types, each associated with distinct pollinators.

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A 64-year-old female presented with extensive osseous erosion of the central skull base from a large tumor, which was evaluated with a combination of CT and MRI. Susceptibility-weighted imaging (SWI) aided the correct preoperative diagnosis of giant skull base schwannoma by demonstrating intratumoral microhemorrhages, later confirmed on histology. Other imaging features on CT and MRI were not helpful to identify the schwannoma in this case.

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