Ontology highlight
ABSTRACT:
SUBMITTER: Venkateswaran S
PROVIDER: S-EPMC6591305 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Venkateswaran Suresh S Denson Lee A LA Jurickova Ingrid I Dodd Anne A Zwick Michael E ME Cutler David J DJ Kugathasan Subra S Okou David T DT
Scientific reports 20190624 1
Neutrophil dysfunction and GM-CSF auto-antibodies are observed in pediatric and adult patients with Crohn's disease (CD). We associated damaging coding variants with low GM-CSF induced STAT5 stimulation index (GMSI) in pediatric CD patients and implicated variation of neutrophil GM-CSF signaling in cell function and disease complications. Because many CD patients with low GMSI do not carry damaging coding mutations, we sought to test the hypothesis that non-coding variants contribute to this phe ...[more]