Carol A. Wise

Identification and evaluation of 41 risk loci for juvenile idiopathic arthritis informs precision medicine: mechanistic implications of DNA topology and an HLA-A*02:01-ERAP2 interaction

This paper identifies 41 risk loci for juvenile idiopathic arthritis, including 14 novel ones, and presents a polygenic risk score associated with age of onset, along with functional mechanisms involving DNA topology and an HLA-A*02:01-ERAP2 interaction.

EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis

This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

The paper identifies a female-biased tail abnormality caused by deletion of Pax1 regulatory elements in mice, linking it to estrogen signaling and AIS susceptibility.

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome

This study identifies AIS-associated genes and regulatory elements through RNA-seq and ChIP-seq in human and mouse tissues, revealing pathways involved in chondrogenesis and connective tissue maintenance.