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Human Genetics · 2022 · Vol. 141 · Issue 3-4 · Springer
Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype–phenotype correlation in patients with OTOF mutations is not yet fully under...
Environmental Microbiology · 2014 · Vol. 16 · Issue 2 · Wiley
Summary To elucidate how ancient pathogenic chlamydiae could overcome temperature barriers to adapt to human cells, we characterized a primitive chlamydia found in HS ‐ T3 amoebae ( A canthamoeba ) isolated from a hot spring. Phylogenetic analysis revealed the primitive species to be P rotochlamydia . In situ hybridization staining showed broad distribution into the amoebal cytoplasm, which was supported by transmission electr...