Citations
Mayo Clinic
3 citation(s) found for "Paepe, Boél De".
Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry
Hum, Ryan Malcolm , Lamb, Janine A. , Oldroyd, Alexander , Wang, Guochun , Wedderburn, Lucy R, Diederichsen, Louise Pyndt , Schmidt, Jens , Danieli, Maria Giovanna , Oakley, Paula, Griger, Zoltán , Phuong, Thuy Nguyen Thi , Kodishala, Chanakya , Mercado, Mónica Vázquez-Del , Andersson, Helena , Paepe, Boél De , Maurer, Britta , McCann, Liza , Pipitone, Nicolò , McHugh, Neil , New, Robert P, Ollier, William , Krogh, Niels Steen , Lundberg, Ingrid E. , Chinoy, Hector , Registry, MYONET, D’hose, Sophie, Lu, Xin , Tian, Xiaolan , Pleštilová, Lenka, Barochová, Tereza, Kubínová, Kateřina , Gelardi, Chiara, Paladini, Alberto , Piga, Mario Andrea , Jara, Luis J. , Cruz‐Reyes, Claudia , Andrade-Ortega, Lilia, Medrano-Ramírez, Gabriel , Salazar-Páramo, Mario , Chavarría-Ávila, Efrain , Aguilar-Vázquez, Andrea, Anda, Jesús-Aureliano Robles-De , Molberg, Øyvind , Dastmalchi, Maryam, Notarnicola, Antonella , Gheorghe, Karina, Liden, Maria, Hanna, Balsam , Jalal, Awat, Hellström, Helena, Martineus, Jehns Christian, New, Paul, Platt, Hazel, Ahmed, Yasmeen , Armstrong, Raymond, Bernstein, Robert, Black, Carol M., Butler, Robin, Carty, John , Chattopadhyay, Chandra, Chelliah, E G, Clarke, Fiona, Dawes, P. T., Devlin, Joseph, Edwards, Christopher, Emery, Paul , Fordham, J. L. A., Fraser, Alexander, Gaston, Hill, Gordon, Patrick , Griffiths, Bridget , Gunawardena, Harsha , Hall, Frances, Hanna, Michael G. , Harrison, Beverley, Hay, Elaine M. , Hilton‐Jones, David, Horden, Lesley, Jones, Adrian, Kamath, Sanjeet, Kennedy, Thomas J. , Klimiuk, P S, Knights, Sally, Lambert, John, Laxminarayan, Ramasharan, Lecky, Bryan, Marks, Jeffrey M., Martin, Michael F., McGonagle, Dennis , McHugh, Neil, McKenna, Francis, McLaren, John, McMahon, Michael , McRorie, Euan , Merry, P, Miller, James , Nicholls, Anne, Ong, Voon , Over, K. E., Packham, John, Pipitone, Nicolo, Plant, Michael, Pountain, G., Pullar, T, Roberts, Mark, Scott, David A. , Shadforth, M F, Sheeran, Thomas, Srinivasan, Arul, Swinson, David, Teh, Lee‐Suan , Webley, M, Winer, Jonathan M., Wedderburn, Lucy R. , Lilleker, James B , Lamb, Janine A , Oldroyd, Alexander G S , Wedderburn, Lucy R , Griger, Zoltan , Nguyen Thi Phuong, Thuy , Kodishala, Chanakya , Vazquez-Del Mercado, Monica , De Paepe, Boel , McHugh, Neil , Vencovsky, Jiri , Lundberg, Ingrid E , Chinoy, Hector , McCann, Liza J , Bleecker, Jan De , Vencovský, Jiří , Registry, MYONET, Mann, H. , Kryštůfková, Olga , Klein, Martin , Saavedra, Miguel A , Lastra, Olga Lidia Vera , Satoh, Minoru , Petri, Marcelo H. , Rönnelid, Johan , Lan, Nguyễn Thị Ngọc , Padyukov, Leonid , Rothwell, Simon W. , Bernstein, Robert, Bowman, Simon , Bruce, Ian N , Carty, John, Denton, Christopher P. , Edwards, Christopher, Fordham, John, Isaacs, John Dudley , Isenberg, David , Kitas, George D. , Lanyon, Peter , Luqmani, Raashid Ahmed , Machado, Pedro , Marks, Jeffrey, Martin, Michael, McHugh, Neil, Miles, Sarah, Nixon, Jennifer, Ong, Voon, Packham, John, Pipitone, Nicolo, Sanders, Paul W. , Williams, Brian, Winer, Jonathan
Rheumatology | September 11, 2023 | Volume: 63 | Issue: 8 | Pages: 2093-2100
10.1093/rheumatology/kead481
| PMID 37698987
Abstract Objectives To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM. Methods Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1γ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified. Patients with DM sine dermatitis or with discordant dual autoantibody specificities were excluded. Sub-cohorts of patients with ASyS with or without skin involvement were defined based on presence of DM-type rashes (heliotrope rash, Gottron’s papules/sign, violaceous rash, shawl sign, V-sign, erythroderma, and/or periorbital rash). Results In total 1054 patients were included (DM, n = 405; ASyS, n = 649). In the ASyS cohort, 31% (n = 203) had DM-type skin involvement (ASyS-DMskin). A higher frequency of extramuscular manifestations, including Mechanic’s hands, Raynaud’s phenomenon, arthritis, interstitial lung disease and cardiac involvement differentiated ASyS-DMskin from DM (all P < 0.001), whereas higher frequency of any of four DM-type rashes—heliotrope rash (n = 248, 61% vs n = 90, 44%), violaceous rash (n = 166, 41% vs n = 57, 9%), V-sign (n = 124, 31% vs n = 28, 4%), and shawl sign (n = 133, 33% vs n = 18, 3%)—differentiated DM from ASyS-DMskin (all P < 0.005). Cancer-associated myositis (CAM) was more frequent in DM (n = 67, 17%) compared with ASyS (n = 21, 3%) and ASyS-DMskin (n = 7, 3%) cohorts (both P < 0.001). Conclusion DM-type rashes are frequent in patients with ASyS; however, distinct clinical manifestations differentiate these patients from classical DM. Skin involvement in ASyS does not necessitate increased malignancy surveillance. These findings will inform future ASyS classification criteria and patient management.
Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
Rebbeck, Timothy R., Sinilnikova, Olga M., Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie , Chenevix‐Trench, Georgia , Easton, Douglas F. , Antoniou, Antonis C. , Nathanson, Katherine L. , Laitman, Yael , Kushnir, Anya, Berger, Raanan , Zidan, Jamal, Friedman, Eitan , Ehrencrona, Hans , Stenmark‐Askmalm, Marie , Einbeigi, Zakaria , Loman, Niklas, Harbst, Katja , Rantala, Johanna, Melin, Beatrice , Olopade, Olufunmilayo I. , Seldon, Joyce, Ganz, Patricia A. , Chan, Salina, Odunsi, Kunle , Gayther, Simon A. , Lu, Karen H., Mitchell, Gillian, Walsh, Christine , Lester, Jenny, Ross, Eric A. , Daly, Mary B., Whittemore, Alice S. , John, Esther M. , Miron, Alexander, Terry, Mary Beth , Goldgar, David E., Tihomirova, Laima, Dorfling, Cecilia M., Rensburg, Elizabeth J. van , Ding, Yuan Chun , Ejlertsen, Bent , Gerdes, Anne‐Marie , Osório, Ana , Benı́tez, Javier , Godino, Javier, Tejada, María‐Isabel , Durán, M. , Weitzel, Jeffrey N. , Bobolis, Kristie, Sand, Sharon , Fontaine, Annette Campbell, Savarese, Antonella , Pasini, Barbara , Peissel, Bernard , Zaffaroni, Daniela , Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe , Bernard, Loris, Genuardi, Maurizio , Radice, Paolo , Dolcetti, Riccardo , Manoukian, Siranoush , Pensotti, Valeria , Yannoukakos, Drakoulis , Torres, Diana , Rashid, Muhammad Usman , Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D. Gareth , Eeles, Rosalind A. , Davidson, Rosemarie, Eccles, Diana , Cole, Trevor, Brewer, Carole, Hodgson, Shirley, Walker, Lisa, Porteous, Mary, Kennedy, M. John, Izatt, Louise , Adlard, Julian , Donaldson, Alan, Ellis, Steve, Sharma, Priyanka , Schmutzler, Rita K., Wappenschmidt, Barbara , Becker, Alexandra, Rhiem, Kerstin, Hahnen, Eric , Engel, Christoph , Meindl, Alfons , Engert, Stefanie, Ditsch, Nina , Plendl, Hans Jörg, Mundhenke, Christoph , Niederacher, Dieter , Fleisch, Markus C. , Sutter, Christian , Bartram, Claus R., Dikow, Nicola , Wang‐Gohrke, Shan , Gadzicki, Dorothea, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Houdayer, Claude , Belotti, Muriel, Gauthier‐Villars, Marion , Boutry‐Kryza, Nadia, Lasset, Christine, Sobol, Hagay , Peyrat, Jean‐Philippe, Muller, Danièle, Fricker, Jean‐Pierre , Collonge‐Rame, Marie‐Agnès , Mortemousque, Isabelle, Noguès, Catherine , Rouleau, Étienne , Paepe, Anne De , Poppe, Bruce , Claes, Kathleen , Piedmonte, Marion, Rodriguez, Gustavo C. , Wakely, Katie, Boggess, John F., Blank, Stephanie V. , Basil, Jack, Phillips, Kelly‐Anne , Caldés, Trinidad , Hoya, Miguel de la , Romero, Atocha , Aittomäki, Kristiina, Hout, Annemarie H. van der, Hogervorst, Frans B.L., Verhoef, Senno, Collée, J. Margriet, Seynaeve, Caroline, Oosterwijk, Jan C., Gille, Johannes J. P., Gómez, E. , Kets, Carolien M., Ausems, Margreet G.E.M. , Aalfs, Cora M. , Devilee, Peter , Mensenkamp, Arjen R. , Kwong, Ava , Oláh, Edith , Papp, J., Dı́ez, Orland , Darder, Esther , Blanco, Ignacio , Salinas, Mónica, Jakubowska, Anna , Lubiński, Jan , Jaworska–Bieniek, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Huzarski, Tomasz , Byrski, Tomasz , Cybulski, Cezary, Tołoczko‐Grabarek, Aleksandra, Złowocka-Perłowska, Elżbieta , Menkiszak, Janusz , Arason, Aðalgeir , Barkardóttir, Rósa B. , Simard, Jacques , Laframboise, Rachel , Montagna, Marco , Alducci, Elisa, Peixoto, Ana , Teixeira, Manuel R. , Spurdle, Amanda B. , Lee, Min Hyuk , Park, Sue K. , Kim, Sung-Won, Friebel, Tara M. , Lindor, Noralane M. , Guidugli, Lucia, Foretová, Lenka , Vijai, Joseph , Offit, Kenneth, Robson, Mark E. , Rau‐Murthy, Rohini, Kauff, Noah D. , Fink-Retter, A., Singer, Christian F., Gschwantler‐Kaulich, Daphne , Pfeiler, Georg , Tea, Muy‐Kheng M., Berger, Andreas, Greene, Mark H. , Mai, Phuong L., Imyanitov, Evgeny N., Senter, Leigha , Bojesen, Anders , Pedersen, Inge Søkilde , Skytte, Anne‐Bine , Sunde, Lone , Thomassen, Mads , Moeller, Sanne Traasdahl, Kruse, Torben A., Jensen, Uffe Birk , Caligo, Maria A. , Aretini, Paolo , Teo, Soo‐Hwang , Selkirk, Christina G. , Hulick, Peter J. , Andrulis, Irene L. , Lu, Karen H. , Durocher, Francine , Thorne, Heather , Pankratz, Vernon S, Wang, Xianshu , Mitra, Nandita , Wan, Fei , Paluch–Shimon, Shani , Huo, Dezheng , Nussbaum, Robert L. , Domchek, Susan M. , Arun, Banu , Karlan, Beth Y. , Godwin, Andrew K. , Pathak, Harsh B. , Chung, Wendy K. , Buys, Saundra S. , Janavičius, Ramūnas , Tung, Nadine , Steele, Linda Roslyn , Neuhausen, Susan L. , Hansen, Thomas van Overeem , Cajal, Teresa Ramón y , Godino, Javier, Bonanni, Bernardo , Gismondi, Viviana , Fostira, Florentia , Garber, Judy E. , Cook, Jackie A , Morrison, Patrick J. , Kennedy, M. John, Ellis, Steve, Meindl, Alfons , Arnold, Norbert , Steinemann, Doris , Beer, Marit A. de , Weber, Bernhard H. F. , Stoppa‐Lyonnet, Dominique , Houdayer, Claude , Damiola, Francesca , Lasset, Christine , Isaacs, Claudine , Leeneer, Kim De , Azodi, Masoud , Nevanlinna, Heli , Gille, Johannes J. P., Wijnen, Juul , Lázaro, Conxi , Gronwald, Jacek , Agata, Simona , Couch, Fergus J. , Pankratz, V. Shane , Tischkowitz, Marc D. , Singer, Christian F. , Rappaport, Christine , Mai, Phuong L., Toland, Amanda Ewart , Caligo, Maria A , Hulick, Peter J , Spurdle, Amanda B , Teixeira, Manuel R , Teo, Soo H , van Rensburg, Elizabeth J , Eccles, Diana , de la Hoya, Miguel , Diez, Orland , Radice, Paolo , Weitzel, Jeffrey N , Claes, Kathleen B M , Adlard, Julian , Darder, Esther , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Joseph, Vijai , Olopade, Olufunmilayo I , Sunde, Lone , Menkiszak, Janusz , Jakubowska, Anna , Romero, Atocha , Torres, Diana , Nathanson, Katherine L , Arason, Adalgeir , Benitez, Javier , Engel, Christoph , Montagna, Marco , Robson, Mark , Simard, Jacques , Chenevix-Trench, Georgia , Huzarski, Tomasz , Senter, Leigha , Rashid, Muhammad U , Gómez-García, Encarna B , Pasini, Barbara , Yannoukakos, Drakoulis , Devilee, Peter , Manoukian, Siranoush , Lubinski, Jan , Sharma, Priyanka , Phillips, Kelly-Anne , Terry, Mary Beth , Kwong, Ava , Rhiem, Kerstin
JAMA | April 7, 2015 | Volume: 313 | Issue: 13 | Pages: 1347
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
Loeys, Bart , Gerber, Elizabeth E. , Riegert‐Johnson, Douglas L. , Iqbal, Sarah , Whiteman, Pat, McConnell, Vivienne, Chillakuri, Chandramouli , Macaya, Daniela , Coucke, Paul , Paepe, Anne De , Judge, Daniel P. , Wigley, Fredrick M. , Mardon, Helen J., Handford, Penny A. , Keene, Douglas R. , Sakai, Lynn Y. , Dietz, Harry C. , Davis, Elise C. , Judge, Daniel P
Science Translational Medicine | March 17, 2010 | Volume: 2 | Issue: 23 | Pages: No page available
10.1126/scitranslmed.3000488
| PMID 20375004
Stiff skin syndrome, an autosomal dominant congenital form of scleroderma, is caused by mutations in the domain of fibrillin-1 that mediates integrin binding.