未登录 Cytokine-Driven Janus Kinase Signal Transducer and Activator of Transcription Pathway Hyperactivity Predicts Disease Severity in Pediatric FSGS Shen, Carol L.; Richardson, Ashley; Martin-Fernandez, Marta; Malle, Louise; Buta, Sofija; Patel, Aum; Rosberger, Haylen; Lim, Jean; Horesh, Michael; Saland, Jeffrey; Bogunovic, Dusan 分享 收藏
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024) Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis 具有JAK1变体的个体受包括自身免疫、特应性、结肠炎和皮炎在内的综合征特征的影响 Horesh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
A novel pediatric polycystic lung disease caused by CCR2 deficiency Neehus, Anna-Lena; Landekic, Marija; Rinchai, Darawan; Panikulam, Patricia; Philippot, Quentin; Le Voyer, Tom; Ogishi, Masato; Rosain, Jeremie; Momenilandi, Mana; Franco, Carlos Andres Arango; Martin-Fernandez, Marta; Khan, Taushif; Bohlen, Jonathan; Manry, Jeremy; Han, Ji Eun; Deslys, Alexandre; Gajardo-Carrasco, Tania; Soudee, Camille; Migaud, Melanie; Seeleuthner, Yoann; Nikolouli, Eirini; Seyedpour, Simin; Begueret, Hugues; Brouzes, Chantal; Vargas, Pablo; Lachmann, Nico; Boire, Raphael; Marr, Nico; Bugonovic, Dusan; Modaresi, Mohammadreza; Nogee, Larry; Craven, Daniel; Mohamadzadeh, Iraj; Rezai, Nima; Shahrooei, Mohammad; Boisson-Dupuis, Stephanie; Sepulveda, Fernando; Beziat, Vivien; Aladjidi, Nathalie; Abel, Laurent; Gros, Philippe; Malo, Danielle; Young, Lisa; Deterding, Robin; Deutsch, Gail; Carey, Brenna; Trapnell, Bruce; Casanova, Jean-Laurent; Bustamante, Jacinta 分享 收藏
Human IL-23 is essential for IFN-y-dependent immunity to mycobacteria Philippot, Quentin; Ogishi, Masato; Bohlen, Jonathan; Puchan, Julia; Arias, Andres Augusto; Nguyen, Tina; Martin-Fernandez, Marta; Conil, Clement; Rinchai, Darawan; Momenilandi, Mana; Mandaviani, Seyed Alireza; Keramatipour, Mohammad; Rosain, Jeremie; Yang, Rui; Khan, Taushif; Neehus, Anna-Lena; Materna, Marie; Han, Ji Eun; Peel, Jessica; Mele, Federico; Weisshaar, Marc; Jovic, Sandra; Bastard, Paul; Levy, Romain; Le Voyer, Tom; Zhang, Peng; Renkilaraj, Majistor Raj Luxman Maglorius; Arango-Franco, Carlos A.; Pelham, Simon; Seeleuthner, Yoann; Pochon, Mathieu; Ata, Manar Mahmoud Ahmad; Al Ali, Fatima; Migaud, Melanie; Soudee, Camille; Kochetkov, Tatiana; Molitor, Anne; Carapito, Raphael; Bahram, Seiamak; Boisson, Bertrand; Fieschi, Claire; Mansouri, Davood; Marr, Nico; Okada, Satoshi; Shahrooei, Mohammad; Parvaneh, Nima; Chavoshzadeh, Zahra; Cobat, Aurelie; Bogunovic, Dusan; Abel, Laurent; Tangye, Stuart G.; Ma, Cindy S.; Beziat, Vivien; Sallusto, Federica; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Casanova, Jean-Laurent; Puel, Anne 分享 收藏
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ISG15 deficiency restricts HIV-1 infection Jurczyszak, Denise; Manganaro, Lara; Buta, Sofija; Gruber, Conor; Martin-Fernandez, Marta; Taft, Justin; Patel, Roosheel; Cipolla, Melissa; Alshammary, Hala; Mulder, Lubbertus C. F.; Sachidanandam, Ravi; Bogunovic, Dusan; Simon, Viviana 分享 收藏
A partial form of inherited human USP18 deficiency underlies infection and inflammation Martin-Fernandez, Marta; Buta, Sofija; Le Voyer, Tom; Li, Zhi; Dynesen, Lasse Toftdal; Vuillier, Francoise; Franklin, Lina; Ailal, Fatima; Muglia Amancio, Alice; Malle, Louise; Gruber, Conor; Benhsaien, Ibtihal; Altman, Jennie; Taft, Justin; Deswarte, Caroline; Roynard, Manon; Nieto-Patlan, Alejandro; Moriya, Kunihiko; Rosain, Jeremie; Boddaert, Nathalie; Bousfiha, Aziz; Crow, Yanick J.; Jankovic, Dragana; Sher, Alan; Casanova, Jean-Laurent; Pellegrini, Sandra; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
Rapid identification of neutralizing antibodies against SARS-CoV-2 variants by mRNA display Tanaka, Shiho; Olson, C. Anders; Barnes, Christopher O.; Higashide, Wendy; Gonzalez, Marcos; Taft, Justin; Richardson, Ashley; Martin-Fernandez, Marta; Bogunovic, Dusan; Gnanapragasam, Priyanthi N. P.; Bjorkman, Pamela J.; Spilman, Patricia; Niazi, Kayvan; Rabizadeh, Shahrooz; Soon-Shiong, Patrick 分享 收藏
Glioma stem cells invasive phenotype at optimal stiffness is driven by MGAT5 dependent mechanosensing Marhuenda, Emilie; Fabre, Christine; Zhang, Cunjie; Martin-Fernandez, Marta; Iskratsch, Thomas; Saleh, Ali; Bauchet, Luc; Cambedouzou, Julien; Hugnot, Jean-Philippe; Duffau, Hugues; Dennis, James W.; Cornu, David; Bakalara, Norbert 分享 收藏
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions Martin-Fernandez, Marta; Bravo Garcia-Morato, Maria; Gruber, Conor; Murias Loza, Sara; Malik, Muhammad Nasir Hayat; Alsohime, Fahad; Alakeel, Abdullah; Valdez, Rita; Buta, Sofija; Buda, Guadalupe; Marti, Marcelo A.; Larralde, Margarita; Boisson, Bertrand; Rodriguez, Marta Feito; Qiu, Xueer; Chrabieh, Maya; Al Ayed, Mohammed; Al Muhsen, Saleh; Desai, Jigar, V; Ferre, Elise M. N.; Rosenzweig, Sergio D.; Amador-Borrero, Blanca; Bravo-Gallego, Luz Yadira; Olmer, Ruth; Merkert, Sylvia; Bret, Montserrat; Sood, Amika K.; Al-rabiaah, Abdulkarim; Temsah, Mohamad Hani; Halwani, Rabih; Hernandez, Michelle; Pessler, Frank; Casanova, Jean-Laurent; Bustamante, Jacinta; Lionakis, Michail S.; Bogunovic, Dusan 分享 收藏
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Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy Gruber, Conor; Martin-Fernandez, Marta; Ailal, Fatima; Qiu, Xueer; Taft, Justin; Altman, Jennie; Rosain, Jeremie; Buta, Sofija; Bousfiha, Aziz; Casanova, Jean-Laurent; Bustamante, Jacinta; Bogunovic, Dusan 分享 收藏
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency Alsohime, Fahad; Martin-Fernandez, Marta; Temsah, Mohamad-Hani; Alabdulhafid, Majed; Le Voyer, Tom; Alghamdi, Malak; Qiu, Xueer; Alotaibi, Najla; Alkahtani, Areej; Buta, Sofija; Jouanguy, Emmanuelle; Al-Eyadhy, Ayman; Gruber, Conor; Hasan, Gamal M.; Bashiri, Fahad A.; Halwani, Rabih; Hassan, Hamdy H.; Al-Muhsen, Saleh; Alkhamis, Nouf; Alsum, Zobaida; Casanova, Jean-Laurent; Bustamante, Jacinta; Bogunovic, Dusan; Alangari, Abdullah A. 分享 收藏
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Myotube elasticity of an amyotrophic lateral sclerosis mouse model Varga, Bela; Martin-Fernandez, Marta; Hilaire, Cecile; Sanchez-Vicente, Ana; Areias, Julie; Salsac, Celine; Cuisinier, Frederic J. G.; Raoul, Cedric; Scamps, Frederique; Gergely, Csilla 分享 收藏
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