2021-06-14

Highly specific monoclonal antibodies and epitope identification against SARS-CoV-2 nucleocapsid protein for antigen detection tests

The ongoing coronavirus disease 2019 (COVID-19) pandemic is a major global public health concern. Although rapid point-of-care testing for detecting viral antigen is important for management of the outbreak, the current antigen tests are less sensitive than nucleic acid testing.
2021-05-14

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning

Although the American College of Medical Geneticsand Genomics/Association for Molecular Pathology (ACMG/AMP)guidelines for variant interpretation are used widely in clinical ge-netics, there is room for improvement of these knowledge-basedguidelines.
2021-05-07

Sustained Neutralizing Antibodies 6 Months Following Infection in 376 Japanese COVID-19 Survivors

There is scarce evidence regarding the long-term persistence of neutralizing antibodies among coronavirus disease 2019 (COVID-19) survivors. This study determined neutralizing antibody titers (NT50) and antibodies against spike protein (SP) or nucleocapsid protein (NP) antigens approximately 6 months after the diagnosis of COVID-19.
2021-04-02

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

UBA1 was examined in 13 of the 14 patients; 73% (8/11) of the male patients had somatic UBA1 variants (c.121A>C, c.121A>G or c.122T>C resulting in p.Met41Leu, p.Met41Val or p.Met41Thr, respectively). All the variant-positive patients had systemic symptoms, including a significantly high prevalence of skin lesions. ddPCR detected low prevalence (0.14%) of somatic variant (c.121A>C) in one female patient, which was subsequently confirmed by PNA-clamping PCR.