Detalhe da pesquisa
1.
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
J Autoimmun
; 144: 103183, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38401466
2.
Update on treatment responses and outcome measure development in chronic nonbacterial osteomyelitis.
Curr Opin Rheumatol
; 35(5): 255-264, 2023 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37433220
3.
Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.
Proc Natl Acad Sci U S A
; 117(25): 14405-14411, 2020 06 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32518111
4.
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.
Proc Natl Acad Sci U S A
; 116(24): 11872-11877, 2019 06 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31138708
5.
Traumatic brain injury results in unique microglial and astrocyte transcriptomes enriched for type I interferon response.
J Neuroinflammation
; 18(1): 151, 2021 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34225752
6.
Comparing children and adults with chronic nonbacterial osteomyelitis.
Curr Opin Rheumatol
; 32(5): 421-426, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32744822
7.
Imaging mimics of chronic recurrent multifocal osteomyelitis: avoiding pitfalls in a diagnosis of exclusion.
Pediatr Radiol
; 50(1): 124-136, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31901992
8.
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
Genet Res (Camb)
; 101: e8, 2019 06 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31190668
9.
Update on the genetics of nonbacterial osteomyelitis in humans.
Curr Opin Rheumatol
; 30(5): 521-525, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29912021
10.
A Common Genetic Variant in TLR1 Enhances Human Neutrophil Priming and Impacts Length of Intensive Care Stay in Pediatric Sepsis.
J Immunol
; 196(3): 1376-86, 2016 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26729809
11.
Importance of recognizing spinal involvement in pediatric patients with chronic recurrent multifocal osteomyelitis.
Pediatr Radiol
; 53(10): 2104-2105, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37246191
12.
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
PLoS Genet
; 11(3): e1005022, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25763846
13.
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.
Curr Rheumatol Rep
; 19(4): 18, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28361334
14.
Chronic Recurrent Multifocal Osteomyelitis (CRMO): Presentation, Pathogenesis, and Treatment.
Curr Osteoporos Rep
; 15(6): 542-554, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29080202
15.
Inflammasome-independent IL-1ß mediates autoinflammatory disease in Pstpip2-deficient mice.
Proc Natl Acad Sci U S A
; 111(3): 1072-7, 2014 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-24395802
16.
The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages.
Blood
; 123(17): 2703-14, 2014 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-24421327
17.
Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans.
PLoS Genet
; 9(7): e1003646, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23874236
18.
Chronic non-bacterial osteomyelitis and autoinflammatory bone diseases.
Clin Immunol
; 216: 108458, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32389739
19.
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Am J Hum Genet
; 88(2): 138-49, 2011 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21276947
20.
Capturing the Range of Disease Involvement in Localized Scleroderma: The Localized Scleroderma Total Severity Scale.
Arthritis Care Res (Hoboken)
; 76(5): 616-626, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38148547