HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

Autor: Reem Kais Jan, Daniel L. Kastner, Francesco Boin, Chris T. Derk, Kathleen D. Kolstad, Vivien Hsu, Heather Gladue, Virginia D. Steen, Avram Goldberg, Paula S. Ramos, Victoria K. Shanmugam, Dinesh Khanna, Lorinda Chung, Ayo P. Doumatey, Richard M. Silver, Elana J. Bernstein, Amy R. Bentley, Pravitt Gourh, Nadia D. Morgan, Ami A. Shah, Maureen D. Mayes, Lesley Ann Saketkoo, Fredrick M. Wigley, Steven E. Boyden, Brynn Kron, Elena Schiopu, Benjamin D. Korman, Lindsey A. Criswell, Peter J. Steinbach, S. Louis Bridges, Suzanne Kafaja, Thomas A. Medsger, Daniel Shriner, James C. Mullikin, Settara C. Chandrasekharappa, Jessica K. Gordon, Robyn T. Domsic, Elaine F. Remmers, John Varga, Adebowale Adeyemo, Sarah A. Safran, Theresa Alexander, Marcin Trojanowski, Charles N. Rotimi

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, vol 117, iss 1

Significance HLA alleles have previously been implicated with scleroderma risk, but, in this study, using a European American ancestral cohort and a newly recruited large cohort of African Americans, we comprehensively define the HLA alleles and amin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a93c337973c75c6b198b9d9bb23399b
https://doi.org/10.1073/pnas.1906593116

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy.

Autor: Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P. C. Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C. Broen, Madelon C. Vonk, Carmen P. Simeon, Behrooz Z. Alizadeh, Marieke J. H. Coenen, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Piet L. C. M. van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A. Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A. González-Gay, Francisco J. García-Hernández, María F. González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G. Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A. Lie, Anna-Maria Hoffmann-Vold, Øyvind Palm, Paloma García de la Peña, Patricia Carreira, John Varga, Monique Hinchcliff, Annette T. Lee, Pravitt Gourh, Christopher I. Amos, Frederick M. Wigley, Laura K. Hummers, J. Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P. Denton, Peter K. Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K. Tan, Frank C. Arnett, Timothy R. D. J. Radstake, Maureen D. Mayes, Javier Martin

Publikováno v: PLoS Genetics, Vol 7, Iss 8 (2011)

Externí odkaz: https://doaj.org/article/4d5606e9cb53448b8c0723d7f6339f4c

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Autor: Michael T. Collins, Mary Scott Ramnitz, Raphaela Goldbach-Mansky, Beth A Brillante, Michael J. Econs, Theo Heller, Alfredo A. Molinolo, Lori C. Guthrie, Marcus Y. Chen, Pravitt Gourh, Jaydira Del Rivero, Rachel I. Gafni, Malaka B. Jackson, Sarah Hatab, Patricia Seo-Mayer, Kenneth E. White, Bita Arabshahi, Edward F. McCarthy, Shoji Ichikawa, Felasfa M. Wodajo

Publikováno v: Journal of Bone and Mineral Research. 31:1845-1854

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::13f77db305a665fa2d693b9a364eb577
https://doi.org/10.1002/jbmr.2870

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Autor: Mary Scott, Ramnitz, Pravitt, Gourh, Raphaela, Goldbach-Mansky, Felasfa, Wodajo, Shoji, Ichikawa, Michael J, Econs, Kenneth E, White, Alfredo, Molinolo, Marcus Y, Chen, Theo, Heller, Jaydira, Del Rivero, Patricia, Seo-Mayer, Bita, Arabshahi, Malaka B, Jackson, Sarah, Hatab, Edward, McCarthy, Lori C, Guthrie, Beth A, Brillante, Rachel I, Gafni, Michael T, Collins

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(10)

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::86dab31e7744af17c9b12a3c0b20337c
https://pubmed.ncbi.nlm.nih.gov/27164190

Systemic sclerosis and lupus: Points in an interferon-mediated continuum

Autor: Damien Chaussabel, Julio Charles, Terry A. McNearney, Frank C. Arnett, Maureen D. Mayes, John D. Reveille, Nancy Oommen, Pravitt Gourh, Michael Fischbach, Filemon K. Tan, Sandeep K. Agarwal, Shervin Assassi, Kairav R. Shah, Virginia Pascual

Publikováno v: Arthritis & Rheumatism. 62:589-598

Systemic sclerosis (SSc) is a multisystem autoimmune disease of connective tissue characterized by immune dysregulation, obliterative vasculopathy, and fibrosis of skin and internal organs (1–3). Using microarrays, 4 previous studies have investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ba976ca9ae67d6a0a354663eb6feb2
https://doi.org/10.1002/art.27224