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Proceedings of the National Academy of Sciences of the United States of America|November 5, 2003
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathwayNitza G Shoham, Michael Centola, Elizabeth Mansfield, et al.Human Molecular Genetics|April 25, 2002
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorderCarol A Wise, Joseph D Gillum, Christine E Seidman, et al.Disease Models & Mechanisms|September 1, 2025
The importance of imperfect pre-clinical models in adolescent idiopathic scoliosisDiane S Sepich, Ryan S Gray, Nadav Ahituv, et al.American Journal of Medical Genetics. Part A|August 30, 2007
NAT2 variation and idiopathic talipes equinovarus (clubfoot)Jacqueline T Hecht, Audrey Ester, Allison Scott, et al.JBMR Plus|December 22, 2023
Interrogating Causal Effects of Body Composition and Puberty-Related Risk Factors on Adolescent Idiopathic Scoliosis: A Two-Sample Mendelian Randomization StudyFaegheh Ghanbari, Nao Otomo, Isabel Gamache, et al.JAMA Dermatology|February 22, 2013
Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatmentAlexandra Geusau, Nadine Mothes-Luksch, Hesam Nahavandi, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 2, 2022
Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1Nandina Paria, Aysha Khalid, Bo Shen, et al.American Journal of Human Genetics|October 28, 2008
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutationChristina A Gurnett, Farhang Alaee, Lisa M Kruse, et al.Biorxiv : the Preprint Server for Biology|April 24, 2023
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormalityAki Ushiki, Rory R Sheng, Yichi Zhang, et al.Cell Reports|March 10, 2024
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormalityAki Ushiki, Rory R Sheng, Yichi Zhang, et al.Pageof 8