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Akademický článek

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

Autor: Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson

Publikováno v: PLoS ONE, Vol 12, Iss 3, p e0169687 (2017)

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic for

Externí odkaz: https://doaj.org/article/5b7768faa8c04c93971d033b27e4d226

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

Autor: Yoichiro Iwakura, Alicia K. Olivier, Jesse E. Otero, Suzanne L. Cassel, John R. Janczy, Fayyaz S. Sutterwala, Kim A. Brogden, Yousef Abu-Amer, Polly J. Ferguson, Dmitry M. Shayakhmetov, Shruti P. Wilson, Alexander G. Bassuk, Trudy L. Burns, Xinyu Bing

Publikováno v: Proceedings of the National Academy of Sciences. 111:1072-1077

Chronic recurrent multifocal osteomyelitis (CRMO) is a human autoinflammatory disorder that primarily affects bone. Missense mutation (L98P) of proline-serine-threonine phosphatase-interacting protein 2 (Pstpip2) in mice leads to a disease that is ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c372bd8060c1e14bf712ec1b74bf54
https://doi.org/10.1073/pnas.1318685111

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

Autor: Allison Cox, Polly J. Ferguson, Vinit B. Mahajan, Alexis L. Finer, Ronald M. Laxer, Benjamin W. Darbro, Alexander G. Bassuk, Xinyu Bing, Albert Erives, Gabriel Velez

Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 3, p e0169687 (2017)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11c254efd43e9e349e7c3a1076071a1
https://pubmed.ncbi.nlm.nih.gov/28686717

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Phenotypic variability in Majeed syndrome

Autor: Polly J. Ferguson, Anand Prahalad Rao, Dharmanand Balebail Gopalakrishna, Xinyu Bing

To the Editor: Majeed syndrome (OMIM #609628) is a syndromic form of chronic recurrent multifocal osteomyelitis (CRMO) that presents with early onset, severe CRMO, and a microcytic dyserythropoietic anemia of variable severity. Onset in all reported

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192bf1f513ef9e4f01ebbd4b342beee6
https://europepmc.org/articles/PMC4898189/

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A common genetic variant in TLR1 enhances human neutrophil priming and impacts length of intensive care stay in pediatric sepsis

Autor: Laura C. Whitmore, Polly J. Ferguson, Brieanna M. Hilkin, Xinyu Bing, Jessica G. Moreland, Amanda R. Philiph, Hector R. Wong, Chul Ahn, Jessica S. Hook

Polymorphonuclear leukocytes (PMN) achieve an intermediate or primed state of activation following stimulation with certain agonists. Primed PMN have enhanced responsiveness to subsequent stimuli, which can be beneficial in eliminating microbes but m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead7330dff89dca8cf2e0b3b1826b359
https://europepmc.org/articles/PMC4724530/

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

Autor: Lorraine T. Tygrett, Annette J. Schlueter, Xinyu Bing, Hatem El-Shanti, Mohammed A. Vasef, Polly J. Ferguson, Luis A. Ochoa, Thomas J. Waldschmidt, Amar Mahgoub

Publikováno v: Bone. 38:41-47

Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder that primarily affects bone but is often accompanied by inflammation of the skin and/or gastrointestinal tract. The etiology is unknown but evidence suggests a genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba5a5b4ce4cfc3d125aa9cd66223f7c
https://doi.org/10.1016/j.bone.2005.07.009

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

Autor: Christine M. Seroogy, Polly J. Ferguson, Xinyu Bing, Anna Huttenlocher, Jason M. Bellak, Jens C. Eickhoff, Daniel C. Grahf, David A. Bennin, Taylor W. Starnes

PSTPIP1 is a cytoskeletal adaptor and F-BAR protein that has been implicated in autoinflammatory disease, most notably in the PAPA syndrome: pyogenic sterile arthritis, pyoderma gangrenosum, and acne. However, the mechanism by which PSTPIP1 regulates

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4479e688e4c322ecc763cea046e384
https://europepmc.org/articles/PMC3999755/

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Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease

Autor: Polly J. Ferguson, Elizabeth Campbell, Joseph A. Church, Xinyu Bing, Andreas Reiff, Alexander G. Bassuk

We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed hom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c169682b13cd9f822d77e80275adc01
https://europepmc.org/articles/PMC3873094/

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