A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.02.009
Abstract: We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. They presented with refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of… read more here.
Keywords: early onset; piga; onset epileptic; novel germline ... See more keywords
Secret(ory) revealed: the long-awaited structures of secretory IgA
Sign Up to like & getrecommendations! Published in 2020 at "Cell Research"
DOI: 10.1038/s41422-020-0351-4
Abstract: Secretory IgA (SIgA) is a specialized form of antibody present at high concentrations in mucosal secretions, where it acts as the first line of defense of the immune system. In a recent paper published in… read more here.
Keywords: chain; iga; piga; form ... See more keywords
Leveraging Whole Genome Sequencing to Define the Mutational Landscape in Paroxysmal Nocturnal Hemoglobinuria
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DOI: 10.1182/blood-2020-139335
Abstract: Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a prototypic disorder of hematopoietic stem cells leading to recurrent complement-mediated intravascular hemolysis. The development of PNH has been linked to somatic mutations in the PIGA gene, coding for… read more here.
Keywords: clone size; pathogenesis; pnh; piga ... See more keywords
Detection of virus-specific polymeric immunoglobulin A in acute hepatitis A, C, E virus serum samples using novel chimeric secretory component
Sign Up to like & getrecommendations! Published in 2018 at "BMC Research Notes"
DOI: 10.1186/s13104-018-3799-2
Abstract: ObjectiveTo conduct a proof-of-concept study on preferential binding of polymeric IgA (pIgA) using a novel recombinant rabbit/human chimeric secretory component (cSC) and preliminary assessment of the diagnostic potential of virus-specific pIgA in discriminating acute hepatitis… read more here.
Keywords: piga; hcv; chimeric secretory; using novel ... See more keywords