Publications by authors named "Kerstin Knies"

Article Synopsis
  • A study conducted from November 2020 to June 2023 assessed the performance of SARS-CoV-2 rapid antigen tests (RDTs) compared to standard RT-qPCR testing among a large group of patients and staff in a hospital setting.
  • The analysis of nearly 78,800 paired results revealed that RDTs had a sensitivity of 34.5% and a specificity of 99.6%, with sensitivity decreasing as fewer symptomatic infections occurred over the course of the pandemic.
  • The findings suggest that RDTs are still effective for diagnosing COVID-19 in symptomatic patients and could be useful for identifying other respiratory infections in the future, despite their declining sensitivity linked to vaccination and the spread of the Omicron variant
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Article Synopsis
  • A study examined 20 severe SARS-CoV-2 clusters at a hospital from the start of the pandemic to July 2021.
  • After the second wave, fewer clusters were observed as vaccination rates rose, but community infections began to rise again.
  • The results highlight the importance of healthcare workers engaging in vaccination efforts to control the virus.
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  • A study in Germany found that 67.9% of children with acute respiratory infections tested positive for various respiratory viruses using oropharyngeal swabs.
  • Rhinovirus was the most common (48.8%), while adenovirus (14.3%), endemic coronaviruses (14.9%), SARS-CoV-2, and influenza virus were found infrequently.
  • The results suggest that pandemic infection control measures have significantly affected the transmission of different respiratory viruses.
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The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA.

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RFWD3 is a recently identified Fanconi anemia protein FANCW whose E3 ligase activity toward RPA is essential in homologous recombination (HR) repair. However, how RPA ubiquitination promotes HR remained unknown. Here, we identified RAD51, the central HR protein, as another target of RFWD3.

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Fanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). Fifteen FA-associated genes have been identified, but the genetic basis in some individuals still remains unresolved.

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Article Synopsis
  • Fanconi anemia (FA) is a rare genetic disorder caused by mutations in one of at least 15 genes involved in repairing DNA damage, leading to symptoms that help confirm the diagnosis through cellular hypersensitivity to DNA crosslinking agents.* -
  • Whole Exome Sequencing (WES) was used in a study of four FA patients to assess its effectiveness for identifying genetic mutations, and it successfully detected pathogenic mutations while providing information for complementation group assignment in a single test.* -
  • Although WES showed promise as a modern diagnostic tool, challenges such as database errors and pseudogenes can complicate data interpretation, yet it remains a competitive alternative to traditional genetic testing for FA.*
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Article Synopsis
  • Fanconi anemia (FA) is a rare genetic disorder that leads to issues like bone marrow failure and increased cancer risk due to mutations in one of 15 FA genes involved in DNA repair.
  • In a case study, whole exome sequencing identified two new mutations in the SLX4/FANCP gene of a patient, including a nonsense mutation and a splice site mutation that disrupt protein function.
  • Despite the absence of SLX4 protein and its associated interactions, the patient's clinical symptoms were not more severe compared to other known cases of FA-P, showcasing the effectiveness of whole exome sequencing in identifying mutations in complex disorders.
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