PPa1 insufficiency drives lysosomal storage disease and inflammatory macrophage expansion in the bone marrow.
Magdalena G. Grzemska, Luming Chen, Jamie L. Russell…·Evan Nair‐Gill
Author
Texas Scottish Rite Hospital for ChildrenORCID 0000-0002-0969-2184Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Magdalena G. Grzemska, Luming Chen, Jamie L. Russell…·Evan Nair‐Gill
Lianlei Wang, Xinyu Yang, Sen Zhao…·Nan Wu
This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.
Aki Ushiki, Rory R. Sheng, Yichi Zhang…·Nadav Ahituv
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.
Hao Qiang Yu, Anas M. Khanshour, Aki Ushiki…·Carol A. Wise
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.
Nadja Makki, Jingjing Zhao, Zhaoyang Liu…·Nadav Ahituv
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.