Zobrazeno 1 - 10
of 32
pro vyhledávání: '"David, Hum"'
Autor:
Fatima Al Ali, Laurent Abel, Jean-François Emile, Davood Mansouri, Mahbuba Rahman, Franck Rapaport, Stéphanie Boisson-Dupuis, Nicholas Hernandez, Taushif Khan, Anna-Lena Neehus, David Hum, Benedetta Bigio, Vivien Béziat, Nico Marr, Jean-Laurent Casanova, Scott Drutman, Jacinta Bustamante, Emmanuelle Jouanguy, Majid Marjani, Robert Fisch, Ruslana Bryk, Nahal Mansouri, Serkan Belkaya, Lazaro Lorenzo-Diaz, Carl Nathan, Seyed Alireza Mahdaviani
Publikováno v:
N Engl J Med
BACKGROUND: Cytomegalovirus (CMV) can cause severe disease in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are prone to multiple infections. It can also rarely cause disease in otherwise healthy persons.
Autor:
Peng Zhang, Katharina Thoma, Bingnan Lyu, Gulbu Uzel, Juan Li, Boualem Hammadi, András N Spaan, Jamila El Baghdadi, Alexandra F. Freeman, Charlotte Cunningham-Rundles, Yu Zhang, Jean-Laurent Casanova, Claire Fieschi, Franck Rapaport, Jérémie Rosain, Vivien Béziat, Simon J. Pelham, Wei-Te Lei, Anne Puel, Maya Chrabieh, Helen C. Su, V. Koneti Rao, David Hum, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Mélanie Migaud, Anne-Sophie Korganow, Qian Zhang, Aurélie Cobat, Steven M. Holland, Laurent Abel, Vishukumar Aimanianda, Bertrand Boisson, Manfred Fliegauf, Benedetta Bigio, Bodo Grimbacher, Yoann Seeleuthner, Takaki Asano, Carol J Saunders, Shen-Ying Zhang, Emmanuelle Jouanguy
Publikováno v:
Journal of Experimental Medicine. 218
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not been demonstrated experimentally and genetically,
Autor:
Capucine Picard, Joëlle Khourieh, Jane Peake, Antoine Guérin, Bertrand Boisson, Aziz Bousfiha, Jamila El Baghdadi, David Hum, Takaki Asano, Jean-Laurent Casanova, Andrew Williams, Simon J. Pelham, Stéphanie Boisson-Dupuis, Peng Zhang, Maya Chrabieh, Luke Droney, Wei-Te Lei, Ilham Fadil, Ji Eun Han, András N Spaan, Qian Zhang, Nevin Hatipoğlu, Franck Rapaport, Anne Puel, Tanwir Habib, Nico Marr, Fatih Celmeli, Vivien Béziat, Joseph Mackie, Biman Saikia, Stuart G. Tangye, Laurent Abel, Tayfun Ozcelik, Juan Li, Sudhir Gupta, Luckshman Ganeshanandan
Publikováno v:
The Journal of Experimental Medicine
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) are heterozygous for rare STAT3 variants. The mechanism of dominance was recently questioned. The authors show that both in-frame and out-of-frame STAT3 variants underlie AD-HIES by n
Autor:
Matthieu Bouaziz, Sirous Zeinali, Vignesh Gunasekharan, Fabienne Jabot-Hanin, Sarah Jill De Jong, Peter Itin, Nessa Aghazadeh, Xavier Rueda Cadena, E. Imahorn, Aurelia D’Amico, Amandine Crequer, Irina Matos, Elaine Fuchs, Bettina Burger, Janet Markle, David Hum, Etienne Patin, Florian Full, Bayaki Saka, Amir Hossein Saeidian, Laurent Abel, James G. Krueger, Nataly Portilla Maya, Claire Q.F. Wang, Jouni Uitto, Emmanuelle Jouanguy, Leila Youssefian, Hassan Vahidnezhad, Armin Ensser, Andrés Augusto Arias, Leslie V. Parise, Tina M. Leisner, Jean-Laurent Casanova, Lou Laimins, Lazaro Lorenzo, Gérard Orth, José Luis Franco
Publikováno v:
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2018, 215 (9), pp.2289-2310. ⟨10.1084/jem.20170308⟩
Journal of Experimental Medicine, 2018, 215 (9), pp.2289-2310. ⟨10.1084/jem.20170308⟩
Journal of Experimental Medicine, Rockefeller University Press, 2018, 215 (9), pp.2289-2310. ⟨10.1084/jem.20170308⟩
Journal of Experimental Medicine, 2018, 215 (9), pp.2289-2310. ⟨10.1084/jem.20170308⟩
International audience; Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of TMC6 (encoding EVER1) or TMC8 (EVER2) are selectively prone to disseminated skin lesions due to keratinocyte-tropic human β-papillomaviruses (
Autor:
Scott B, Drutman, Filomeen, Haerynck, Franklin L, Zhong, David, Hum, Nicholas J, Hernandez, Serkan, Belkaya, Franck, Rapaport, Sarah Jill, de Jong, David, Creytens, Simon J, Tavernier, Katrien, Bonte, Sofie, De Schepper, Jutte, van der Werff Ten Bosch, Lazaro, Lorenzo-Diaz, Andy, Wullaert, Xavier, Bossuyt, Gérard, Orth, Vincent R, Bonagura, Vivien, Béziat, Laurent, Abel, Emmanuelle, Jouanguy, Bruno, Reversade, Jean-Laurent, Casanova
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 116(38)
Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in
Autor:
Sarah Jill De Jong, Sofie De Schepper, Jean-Laurent Casanova, Jutte van der Werff ten Bosch, David Hum, Emmanuelle Jouanguy, Franklin L. Zhong, Vincent R. Bonagura, Scott Drutman, Nicholas Hernandez, David Creytens, Gérard Orth, Katrien Bonte, Andy Wullaert, Franck Rapaport, Filomeen Haerynck, Laurent Abel, Serkan Belkaya, Xavier Bossuyt, Vivien Béziat, Lazaro Lorenzo-Diaz, Bruno Reversade, Simon Tavernier
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 116(38), 19055-19063. National Academy of Sciences
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
Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccc719080bb3cc3a6a38e5db3e92583
https://pure.amc.nl/en/publications/homozygous-nlrp1-gainoffunction-mutation-in-siblings-with-a-syndromic-form-of-recurrent-respiratory-papillomatosis(16988276-9a9b-4487-b87c-baf543687e04).html
https://pure.amc.nl/en/publications/homozygous-nlrp1-gainoffunction-mutation-in-siblings-with-a-syndromic-form-of-recurrent-respiratory-papillomatosis(16988276-9a9b-4487-b87c-baf543687e04).html
Autor:
Gladys Valverde-Franco, Jean-Pierre Pelletier, David Hum, Johanne Martel-Pelletier, Bertrand Lussier, Hassan Fahmi, Koichi Matsuo, Mohit Kapoor
Publikováno v:
The American Journal of Pathology. 185:335-346
Osteoarthritis (OA) is characterized by progressive joint destruction, including synovial membrane alteration. EphB4 and its ligand ephrin-B2 were found in vitro to positively affect OA subchondral bone and cartilage. In vivo in an experimental mouse
Autor:
David Hum, Jean-Pierre Pelletier, Hassan Fahmi, Johanne Martel-Pelletier, Mohit Kapoor, Bertrand Lussier, Gladys Valverde-Franco, Koichi Matsuo
Publikováno v:
Arthritis & Rheumatism. 64:3614-3625
Objective In vitro activation of the receptor EphB4 positively affects human osteoarthritis (OA) articular cell metabolism. However, the specific in vivo role of this ephrin receptor in OA remains unknown. We investigated in mice the in vivo effect o
Autor:
Jean-Pierre Pelletier, David Hum, Ginette Tardif, Johanne Martel-Pelletier, Mohit Kapoor, Hassan Fahmi, Ying-Hua Li
Publikováno v:
Arthritis Research & Therapy
Background The unfolded protein response (UPR) is activated following an endoplasmic reticulum (ER) stress. The aim of this study was to investigate the global expression of UPR genes in human OA chondrocytes in induced (I)-UPR conditions, and to exp
Autor:
Alexander Watson, Joseph P. Bidwell, Ginette Tardif, David Hum, Changshan Geng, Johanne Martel-Pelletier, Jean-Pierre Pelletier, Zhiyong Fan, Martin Lavigne, Christelle Boileau
Publikováno v:
Arthritis & Rheumatism. 54:2471-2480
Objective Matrix metalloprotease 13 (MMP-13) plays a major role in osteoarthritic (OA) processes. We previously identified the AG-rich element (AGRE) regulatory site (GAAAAGAAAAAG) in the proximal promoter of this gene. Electrophoretic mobility shift