Výsledky vyhledávání

A locus on chromosome 9p predisposes to a specific disease manifestation, acute anterior uveitis, in ankylosing spondylitis, a genetically complex, multisystem, inflammatory disease

Autor: N. Kevin Wade, Muhammad Asim Khan, Li Jin, Ge Zhang, Justine R. Smith, Matthias D. Becker, James T. Rosenbaum, H. Ralph Schumacher, John D. Reveille, Tammy M. Martin, Ralph D. Levinson, J.E. Coffman, Friederike Mackensen, J. Luo, T. M. Doyle, Barbara M. Rajska

Publikováno v: Arthritis & Rheumatism. 52:269-274

Objective Uveitis or intraocular inflammation is a major cause of visual loss. Acute anterior uveitis (AAU) affects ∼40% of patients with ankylosing spondylitis (AS) but also affects patients with no evidence of spondylarthritis. We sought to deter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc95da21ad1feac40451e970bd73e963
https://doi.org/10.1002/art.20777

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Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family

Autor: Michael L. Klein, Vesna Persun, Richard G. Weleber, Tammy M. Martin, T. M. Doyle, Vasavi Vittal, Andrea J. Humpert, Alison Mahan, Peter J. Francis, Mitchell Schain, Christina W. Luzier, Ted S. Acott, Maria A. Cassera, Charles Runckel, Dennis W. Schultz

Publikováno v: Human Molecular Genetics. 12:3315-3323

Age-related macular degeneration (AMD) is a common cause of severe vision loss. Identification of the genes involved in AMD will lead to a better understanding of this disease at the molecular level, which will eventually lead to early detection, pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be5be38cb8a27e922ad6e2b09926168
https://doi.org/10.1093/hmg/ddg348

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Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree

Autor: Tammy M. Martin, Frank T. Saulsbury, Carlos D. Rose, Kelly A. Goodwin, Carrie R. Austin, Carine Wouters, T. M. Doyle

Publikováno v: Arthritis and rheumatism. 60(6)

Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family membe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5455f55e58f43ec027c96423daed0198
https://pubmed.ncbi.nlm.nih.gov/19479836

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Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

Autor: Carlos D. Rose, Tammy M. Martin, T. M. Doyle, Mara L. Becker

Publikováno v: Arthritis and rheumatism. 56(4)

This is the first report of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d794117d3ab88259f634cfd15fd305e9
https://pubmed.ncbi.nlm.nih.gov/17393391

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Infantile onset panniculitis with uveitis and systemic granulomatosis: a new clinicopathologic entity

Autor: Carlos D. Rose, T. M. Doyle, Carine Wouters, Pierre Quartier, Dorothee Stichweh, Marilynn Punaro, Tammy M. Martin, Jinnell A. Lewis

Publikováno v: The Journal of pediatrics. 151(6)

We report four children with infantile onset lobular panniculitis, high fever, uveitis, and systemic granulomatous inflammation, recruited through the International Registry of Pediatric Granulomatous Arthritis (PGA)-. Neither CARD15 nor CIAS1 mutati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b435378b14794b7026e738e9841725af
https://pubmed.ncbi.nlm.nih.gov/18035159

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Pediatric granulomatous arthritis: an international registry

Autor: James T. Rosenbaum, Tammy M. Martin, Carine Wouters, Carlos D. Rose, Silvia Meiorin, Michael P. Davey, T. M. Doyle

Publikováno v: Arthritis and rheumatism. 54(10)

Objective Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50–90% of cases. We chose t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9490750bff5acfa1fce6c923d979e87c
https://pubmed.ncbi.nlm.nih.gov/17009307

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Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15)

Autor: Justine R. Smith, Tammy M. Martin, Denis Dinulescu, James T. Rosenbaum, T. M. Doyle, K. Rust

Publikováno v: American journal of ophthalmology. 136(5)

Purpose Mutations in NOD2 are responsible for Blau syndrome, a systemic disease triad involving the uvea, joints, and skin. NOD2 mutations are also associated with Crohn disease. Both Blau syndrome and Crohn disease involve granulomatous inflammation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7cceb223fcf38665f53a6ca91cc387
https://pubmed.ncbi.nlm.nih.gov/14597055

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