Genomes and Genes
Polly J Ferguson
Affiliation: University of Iowa
- A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitisPolly J Ferguson
Department of Pediatrics, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Bone 38:41-7. 2006..These data suggest that mutations in pstpip2 may be the genetic explanation for the autoinflammatory phenotype seen in the cmo mouse...
- Efficacy of anti-IL-1 treatment in Majeed syndromeTroels Herlin
Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark
Ann Rheum Dis 72:410-3. 2013..Long-term outcome is poor. This is the first report detailing the treatment of Majeed syndrome with biological agents and demonstrates clinical improvement with IL-1blockade...
- Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitisPolly J Ferguson
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52240, USA
Curr Rheumatol Rep 14:130-41. 2012..This review briefly summarizes the main clinical and radiologic aspects of the disease and then focuses on genetics and pathophysiology and provides an update on treatment...
- Papular xanthomas and erosive arthritis in a 3 year old girl, is this a new MRH variant?Catalina Matiz
Division of Pediatric Rheumatology, Penn State Milton S Hershey Medical Center, Hershey, Pennsylvania, USA
Pediatr Rheumatol Online J 7:15. 2009..We review the different diagnoses that should be considered in children with xanthomas and arthritis as well as the different pharmacologic therapies used in children with multicentric reticulohistiocytosis...
- Autoinflammatory bone disordersPolly J Ferguson
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
Curr Opin Rheumatol 19:492-8. 2007..This review provides an update on clinical, genetic, and immunologic aspects of the autoinflammatory bone disorders...
- Shrinking lung syndrome in a 14-year-old boy with systemic lupus erythematosusPolly J Ferguson
Department of Pediatrics, Children s Hospital of Iowa, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
Pediatr Pulmonol 41:194-7. 2006..Shrinking lung syndrome should be included in the differential diagnosis of dyspnea in both children and adults with systemic lupus erythematosus...
- Chronic recurrent multifocal osteomyelitis: a concise review and genetic updateHatem I El-Shanti
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
Clin Orthop Relat Res 462:11-9. 2007..We emphasize the need to validate diagnostic clinical criteria and develop new pathogenesis-based targeted therapy...
- Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka
Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America
PLoS Genet 11:e1005022. 2015..These studies point to a new target for anti-seizure therapy and illustrate the translational power of studying diseases in species across the evolutionary spectrum. ..
- Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient miceSUZANNE L CASSEL
Inflammation Program, Department of Internal Medicine, Graduate Program in Immunology, Department of Pediatrics, Department of Pathology, Department of Orthopedics, Dows Institute for Dental Research and Department of Periodontics, College of Dentistry, and Department of Epidemiology, University of Iowa, Iowa City, IA 52242
Proc Natl Acad Sci U S A 111:1072-7. 2014..These data provide a rationale for directly targeting IL-1RI or IL-1β as a therapeutic strategy in CRMO. ..
- PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersLily Paemka
The University of Iowa, Iowa City, Iowa, United States of America Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America
PLoS ONE 8:e80737. 2013..Taken together, these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles. ..
- Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggersManisha Sharma
Divisions of Rheumatology in Internal Medicine and Pediatrics, University of Iowa, Iowa City, Iowa 52240, USA
Curr Opin Rheumatol 25:658-64. 2013..To provide an update on the genetics and immunologic basis of autoinflammatory bone disorders including chronic recurrent multifocal osteomyelitis including the monogenic forms of the disease...
- Primary multifocal osseous lymphoma in a childTakashi S P Sato
Carver College of Medicine, University of Iowa, Iowa City, IA, USA
Pediatr Radiol 38:1338-41. 2008..We hope that awareness of this entity will help radiologists achieve timely diagnosis and intervention...
- A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Am J Hum Genet 83:572-81. 2008..PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy...
- Presence of epilepsy-associated variants in large exome databasesNatalya S Cherepanova
Department of Pediatrics, The University of Iowa, Iowa City, Iowa, USA
J Neurogenet 27:1-4. 2013..These databases also elucidate the array of genetic variation in putative epilepsy genes in the general population...
- A splice site mutation confirms the role of LPIN2 in Majeed syndromeZakiya S Al-Mosawi
Salmanyia Medical Complex, Manama, Kingdom of Bahrain
Arthritis Rheum 56:960-4. 2007..2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome...
- Genetic Basis of chronic Multifocal OsteomyelitisPolly Ferguson; Fiscal Year: 2007..abstract_text> ..