Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Amsterdam, Netherlands. In Circ Res, 2014
METHODS AND RESULTS: Parametric linkage analysis combined with exome sequencing in a FH4 family resulted in the identification of the variant p.Glu97Asp in signal transducing adaptor family member 1 (STAP1), encoding signal transducing adaptor family member 1. Sanger sequencing of STAP1 in 400 additional unrelated FH4 probands identified a second p.Glu97Asp carrier and 3 additional missense variants, p.Leu69Ser, p.Ile71Thr, and p.Asp207Asn.
Mucosal plasma cell barrier disruption during intestine transplant rejection.
Pittsburgh, United States. In Transplantation, 2013
RESULTS: Among 107 differentially expressed genes, three B-cell lineage-specific genes, CCR10, STAP1, and IGLL1, were down-regulated during ITx rejection and were selected for and achieved technical quantitative reverse transcription polymerase chain reaction replication.