Not logged in Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome Waich, Stephanie; Kreidl, Karin; Vodopiutz, Julia; Demir, Arzu Meltem; Pollio, Adam R.; Dostal, Vojtech; Pfaller, Kristian; Parlato, Marianna; Cerf-Bensussan, Nadine; Adam, Ruediger; Vogel, Georg F.; Uhlig, Holm H.; Ruemmele, Frank M.; Mueller, Thomas; Hess, Michael W.; Janecke, Andreas R.; Huber, Lukas A.; Valovka, Taras Share Save
Share Save
Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A Revenu, Celine; Lebreton, Corinne; Serio, Magda Cannata; Rosello, Marion; Duclaux-Loras, Remi; Duroure, Karine; Nicolle, Ophelie; Eggeler, Fanny; Prosperi, Marie-Therese; Stoufflet, Julie; Vougny, Juliette; Lepine, Priscilla; Michaux, Gregoire; Cerf-Bensussan, Nadine; Coudrier, Evelyne; Perez, Franck; Parlato, Marianna; Del Bene, Filippo Share Save
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis Ghasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M. Share Save
Share Save
Share Save
The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms (vol 36, pg 1720, 2022) Alaggio, Rita; Amador, Catalina; Anagnostopoulos, Ioannis; Attygalle, Ayoma D.; de Oliveira Araujo, Iguaracyra Barreto; Berti, Emilio; Bhagat, Govind; Borges, Anita Maria; Boyer, Daniel; Calaminici, Mariarita; Chadburn, Amy; Chan, John K. C.; Cheuk, Wah; Chng, Wee-Joo; Choi, John K.; Chuang, Shih-Sung; Coupland, Sarah E.; Czader, Magdalena; Dave, Sandeep S.; de Jong, Daphne; Di Napoli, Arianna; Du, Ming-Qing; Elenitoba-Johnson, Kojo S.; Ferry, Judith; Geyer, Julia; Gratzinger, Dita; Guitart, Joan; Gujral, Sumeet; Harris, Marian; Harrison, Christine J.; Hartmann, Sylvia; Hochhaus, Andreas; Jansen, Patty M.; Karube, Kennosuke; Kempf, Werner; Khoury, Joseph; Kimura, Hiroshi; Klapper, Wolfram; Kovach, Alexandra E.; Kumar, Shaji; Lazar, Alexander J.; Lazzi, Stefano; Leoncini, Lorenzo; Leung, Nelson; Leventaki, Vasiliki; Li, Xiao-Qiu; Lim, Megan S.; Liu, Wei-Ping; Louissaint, Abner, Jr.; Marcogliese, Andrea; Medeiros, L. Jeffrey; Michal, Michael; Miranda, Roberto N.; Mitteldorf, Christina; Montes-Moreno, Santiago; Morice, William; Nardi, Valentina; Naresh, Kikkeri N.; Natkunam, Yasodha; Ng, Siok-Bian; Oschlies, Ilske; Ott, German; Parrens, Marie; Pulitzer, Melissa; Rajkumar, S. Vincent; Rawstron, Andrew C.; Rech, Karen; Rosenwald, Andreas; Said, Jonathan; Sarkozy, Clementine; Sayed, Shahin; Saygin, Caner; Schuh, Anna; Sewell, William; Siebert, Reiner; Sohani, Aliyah R.; Suzuki, Ritsuro; Tooze, Reuben; Traverse-Glehen, Alexandra; Vega, Francisco; Vergier, Beatrice; Wechalekar, Ashutosh D.; Wood, Brent; Xerri, Luc; Xiao, Wenbin; Akinola, Norah Olubunmi; Akkari, Yassmine; Allende, Luis M.; Aozasa, Katsuyuki; Araujo, Iguaracyra; Arcaini, Luca; Ardeshna, Kirit M.; Asano, Naoko; Attarbaschi, Andishe; Bacon, Chris M.; Barrans, Sharon Louise; Batchelor, Tracy; Battistella, Maxime; Baughn, Linda B.; Behdad, Amir; Berentsen, Sigbjorn; Bianchi, Giada; Bledsoe, Jacob; Borchmann, Peter; Bower, Mark; Buldini, Barbara; Burger, Jan Andreas; Burkhardt, Birgit; Cassaday, Ryan D.; Cazzaniga, Giovanni; Cerf-Bensussan, Nadine; Cesarman, Ethel; Chandy, Mammen; Chapman, Jennifer R.; Chapuy, Bjorn; Chen, Xueyan; Cheng, Chee Leong; Chiattone, Carlos; Chiorazzi, Nicholas; Cook, Lucy B.; Cooper, Wendy A.; Corboy, Gregory Philip; Cowan, Andrew John; Cozzolino, Immacolata; Cree, Ian A.; d'Amore, Emanuele S. G.; Davies, Andrew John; Deckert, Martina; Delabie, Jan; Demicco, Elizabeth G.; Deshpande, Vikram; Diepstra, Arjan; Dierickx, Daan; Dunleavy, Kieron; Eichhorst, Barbara; Ennishi, Daisuke; Fajgenbaum, David C.; Farinha, Pedro; Fernandez de Larrea, Carlos; Fisher, Kevin E.; Fitzgibbon, Jude; Flanagan, Melina; Fromm, Jonathan; Garcia, Juan F.; Geddie, William Robert; Gertz, Morie; Gopal, Ajay; Gopal, Satish; Greipp, Patricia Theresa; Gru, Alejandro; Gupta, Ritu; Hansmann, Martin-Leo; Hebeda, Konnie M.; Herfarth, Klaus; Herling, Marco; Hermine, Olivier; Khe Hoang-Xuan; Hodge, Jennelle; Hu, Shimin; Huang, Yuhua; Hung, Yin Pun; Hunger, Stephen; Inaba, Hiroto; Inagaki, Hiroshi; Iqbal, Javeed; Ishitsuka, Kenji; Iwaki, Noriko; Iwatsuki, Keiji; Jain, Nitin; Jeon, Yoon Kyung; Kadin, Marshall; Kaji, Sachiko; Kakkar, Aanchal; Karadimitris, Anastasios; Kataoka, Keisuke; Kato, Seiichi; Kersten, Marie Jose; Ketterling, Rhett P.; Kim, Ji Eun; Kratz, Christian P.; Kridel, Robert; Kristinsson, Sigurdur; Kuppers, Ralf; Kuzu, Isinsu; Yok-Lam; Lacasce, Ann; Lamant-Rochaix, Laurence; Lamy, Thierry; Landgren, Ola; Laskar, Siddhartha; Laskin, William Bradlyn; Lenz, Georg; Li, Shaoying; Di Li, Gan; Lin, Pei; Locatelli, Franco; Lorsbach, Robert Brian; Lossos, Izidore; Loughran, Thomas P. Jr; Macon, William R.; Maleszewski, Joseph J.; Malhotra, Pankaj; Marafioti, Teresa; Maruyama, Dai; Marx, Alexander; Mbulaiteye, Sam M.; Meignin, Veronique; Mejstrikova, Ester; Michelow, Pamela; Miettinen, Markku; Miles, Rodney R.; Miyoshi, Hiroaki; Molina, Thierry Jo; Mollejo, Manuela; Momose, Shuji; Mori, Tetsuya; Morice, William G.; Nadel, Bertrand; Nagai, Hirokazu; Nagane, Motoo; Nair, Reena; Nakamura, Naoya; Nakazawa, Atsuko; Nasr, Samih; Nicholson, Andrew Gordon; Nicolae, Alina; Ohgami, Robert Shigeo; Oishi, Naoki; Olson, Timothy S.; Ortonne, Nicolas; Paiva, Bruno; Pan-Hammarstrom, Qiang; Parihar, Mayur; Paulli, Marco; Petersen, Andrea; Picarsic, Jennifer; Pileri, Alessandro; Pimpinelli, Nicola; Plaza, Jose A.; Rabin, Karen R.; Raderer, Markus; Rai, Kanti; Randen, Ulla; Rao, Huilan; Robson, Alistair; Rochford, Rosemary; Rosenquist, Richard; Rossi, Davide; Rossi, Esther D.; Rule, Simon; Rymkiewicz, Grzegorz; Sabattini, Elena; Saha, Vaskar; Sakata-Yanagimoto, Mamiko; Sander, Christian A.; Sangueza, J. Martin; Sangueza, Omar P.; Santucci, Marco; Sato, Yasuharu; Satou, Akira; Schafernak, Kristian Theo; Schmitt, Fernando; Semenzato, Gianpietro; Sengar, Manju; Shanafelt, Tait; Shimada, Kazuyuki; Slack, Graham W.; Slager, Susan; Soffietti, Riccardo; Solomon, David A.; Stamatopoulos, Kostas; Steidl, Christian; Stilgenbauer, Stephan; Sukswai, Narittee; Takeuchi, Kengo; Tallini, Giovanni; Tamaru, Junichi; Tan, Soo-Yong; Tembhare, Prashant; Tiacci, Enrico; Tokura, Yoshiki; Tournilhac, Olivier; Treon, Steven; Truemper, Lorenz; Tsukasaki, Kunihiro; van Rhee, Frits; Varghese, Abraham; Vermeer, Maarten H.; Vielh, Philippe; Walker, Brian; Wang, Michael; Wang, Huan-You; Wang, Zhe; Watanabe, Takashi; Weigert, Oliver; Wein-Stock, David; Whittaker, Sean J.; Willemze, Rein; Woessmann, Wilhelm; Wu, Catherine J.; Yamaguchi, Motoko; Yamamoto, Hidetaka; Yamashita, Daisuke; Yang, Shenmiao; Yang, David T.; Yasuda, Takahiko; Yin, Wei-Hua; Zen, Yoh; Zhao, Sha; Zhao, Wei-Li Share Save
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options Rodari, Marco M. M.; Cazals-Hatem, Dominique; Uzzan, Mathieu; Martin Silva, Nicolas; Khiat, Anis; Ta, Minh Chau; Lhermitte, Ludovic; Touzart, Aurore; Hanein, Sylvain; Rouillon, Clea; Joly, Francisca; Elmorjani, Adrienne; Steffann, Julie; Cerf-Bensussan, Nadine; Parlato, Marianna; Charbit-Henrion, Fabienne Share Save
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy Charbit-Henrion, Fabienne; Haas, Manon; Chaussade, Stanislas; Cellier, Christophe; Cerf-Bensussan, Nadine; Malamut, Georgia; Khater, Sherine; Khiat, Anis; Cording, Sascha; Parlato, Marianna; Dragon-Durey, Marie-Agnes; Beuvon, Frederic; Brousse, Nicole; Terris, Benoit; Picard, Capucine; Fusaro, Mathieu; Rieux-Laucat, Frederic; Stolzenberg, Marie-Claude; Jannot, Anne-Sophie; Mathian, Alexis; Allez, Matthieu; Malphettes, Marion; Fieschi, Claire; Aubourg, Alexandre; Zallot, Camille; Roblin, Xavier; Abitbol, Vered; Belle, Arthur; Wils, Pauline; Cheminant, Morgane; Matysiak-Budnik, Tamara; Vuitton, Lucine; Pouderoux, Philippe; Abramowitz, Laurent; Castelle, Martin; Suarez, Felipe; Hermine, Olivier; Ruemmele, Frank; Mouthon, Luc Share Save
Share Save
Share Save
Share Save
Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France Hamon, Annick; Cazals-Hatem, Dominique; Stefanescu, Carmen; Uzzan, Mathieu; Treton, Xavier; Sauvanet, Alain; Panis, Yves; Monsinjon, Marie; Bonvalet, Fanny; Corcos, Olivier; Azouguene, Emilie; Cerf-Bensussan, Nadine; Bouhnik, Yoram; Charbit-Henrion, Fabienne Share Save
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking Duclaux-Loras, Remi; Lebreton, Corinne; Berthelet, Jeremy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; de Courtils, Celine Revenu; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Julia; Mahe, Maxime M.; Hess, Michael W.; Durel, Beatrice; Lefort, Nathalie; Banal, Celine; Parisot, Melanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F.; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R.; Mueller, Thomas; Huber, Lukas A.; Rodrigues-Lima, Fernando; Ruemmele, Frank M.; Uhlig, Holm H.; Bene, Filippo Del; Michaux, Gregoire; Cerf-Bensussan, Nadine; Parlato, Marianna Share Save
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency Seguier, Julie; Briantais, Antoine; Ebbo, Mikael; Meunier, Benoit; Aurran, Therese; Coze, Stephanie; Kaphan, Elsa; De Sainte Marie, Benjamin; Sbihi, Zineb; Latour, Sylvain; Cerf-Bensussan, Nadine; Picard, Capucine; Vely, Frederic; Barlogis, Vincent; Schleinitz, Nicolas Share Save
Share Save
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis Joosse, Maria E.; Charbit-Henrion, Fabienne; Boisgard, Remy; Raatgeep, Rolien (H) C.; Lindenbergh-Kortleve, Dicky J.; Costes, Lea M. M.; Nugteren, Sandrine; Guegan, Nicolas; Parlato, Marianna; Veenbergen, Sharon; Malan, Valerie; Nowak, Jan K.; Hollink, Iris H. I. M.; Mearin, M. Luisa; Escher, Johanna C.; Cerf-Bensussan, Nadine; Samsom, Janneke N. Share Save
Share Save
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna Share Save
Feline low-grade intestinal T cell lymphoma: a unique natural model of human indolent T cell lymphoproliferative disorder of the gastrointestinal tract Freiche, Valerie; Cordonnier, Nathalie; Paulin, Mathieu Victor; Huet, Helene; Turba, Maria Elena; Macintyre, Elizabeth; Malamut, Georgia; Cerf-Bensussan, Nadine; Molina, Thierry Jo; Hermine, Olivier; Bruneau, Julie; Couronne, Lucile Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}