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JCI Loss of GalNAc-T14 links O-glycosylation defects to alterations in B cell homing in IgA nephropathy
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JCI Loss of GalNAc-T14 links O-glycosylation defects to alterations in B cell homing in IgA nephropathy
Aberrant O-glycosylation of the IgA1 hinge region is a characteristic finding in patients with IgA nephropathy (IgAN) and is thought to contribute to immune-complex formation and kidney injury. Other studies have suggested that abnormalities in mucosal immunity and lymphocyte homing are major contributors to disease. We identified a family with IgAN segregating a heterozygous predicted loss-of-function (LOF) variant in GALNT14, the gene encoding…
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