An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson, +38

New England Journal of Medicine

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Polly J. Ferguson, Xinyu Bing, M A Vasef, +6

Bone

InflammationAutoimmune DiseaseDisease MechanismMissense MutationPathogenesis +4

Efficacy of anti-IL-1 treatment in Majeed syndrome

Troels Herlin, Bente Fiirgaard, Mette Bjerre, +4

Annals of the Rheumatic Diseases

Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice

Suzanne L. Cassel, John R. Janczy, Xinyu Bing, +11

Proceedings of the National Academy of Sciences

Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype

Polly J. Ferguson, Mary A. Lokuta, Hatem El‐Shanti, +3

Arthritis & Rheumatism

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Allison Cox, Benjamin W. Darbro, Ronald M. Laxer, +7

PLoS ONE

SclerostinGeneticsPathologyDisease Gene IdentificationCrmo Murine Model +16

The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages

Taylor W. Starnes, David A. Bennin, Xinyu Bing, +6

Blood

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

Levi P. Sowers, Lipin Loo, Ying Cheng Wu, +18

Molecular Psychiatry

Synaptic PlasticityHippocampal Synaptic DysfunctionMolecular NeuroscienceDevelopmental BiologyDevelopmental Cognitive Neuroscience +12

Effect of treatment of diabetic rats with dehydroepiandrosterone on vascular and neural function

Mark A. Yorek, Lawrence J. Coppey, Jill S. Gellett, +4

American Journal of Physiology-Endocrinology and Metabolism

Mutations in Extracellular Matrix Genes<i>NID1</i>and<i>LAMC1</i>Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, +23

Human Mutation

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationMendelian Disorder +16