Publications by authors named "C J Mache"

Conventional thin section electron microscopy of viral pathogens, such as the pandemic SARS-CoV-2, can provide structural information on the virus particle phenotype and its evolution. We recorded about 900 transmission electron microscopy images of different SARS-CoV-2 variants, including Alpha (B.1.

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  • H9N2 influenza A viruses have become common in poultry in the Middle East and Asia, leading to an increase in human infections.
  • A novel strain of H9N2 was found in Egyptian fruit bats, which shares genetic traits with current avian strains, indicating possible recent genetic mixing.
  • Research shows that bat H9N2 can replicate and spread in ferrets, infect human lung tissue, and evade certain antiviral defenses, highlighting its potential risk as a pre-pandemic virus.
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  • Respiratory viral infections can vary significantly in severity, from symptomless cases to fatal outcomes; the mechanisms behind this variability are not fully understood.
  • In a case study, a patient aged 5-15 with hemolytic uremic syndrome died from hemorrhagic pneumonia linked to a high presence of A(H1N1)pdm09 viruses with specific genetic mutations impacting their replication speed.
  • Research showed that these genetic variations helped the virus thrive in the lungs, leading to significant cellular damage and a rapid progression of severe respiratory illness.
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Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent studies have identified variants in DCDC2, encoding doublecortin domain-containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two novel homozygous or compound heterozygous variants in DCDC2.

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This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.

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