Results 101 to 110 of about 161,284 (313)
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou +122 morewiley +1 more sourceBone marrow eosinophils in plasma cell disorders
, 2018 In experimental studies, eosinophils have been shown to promote the survival, proliferation, and retention of plasma cells in the bone marrow (BM). The clinical significance of eosinophils in plasma cell disorders (PCDs) in humans is largely unknown ...Hansson, Markus, Åsa Johansson, Stina Wichert, Markus Hansson, Pettersson, Åsa, Johansson, Åsa, Hellmark, Thomas, Åsa Pettersson, Wichert, Stina, Thomas Hellmark +9 morecore +2 more sourcesEosinophils promote epithelial to mesenchymal transition of bronchial epithelial cells.
PLoS ONE, 2013 Eosinophilic inflammation and remodeling of the airways including subepithelial fibrosis and myofibroblast hyperplasia are characteristic pathological findings of bronchial asthma.Atsushi Yasukawa, Koa Hosoki, Masaaki Toda, Yasushi Miyake, Yuki Matsushima, Takahiro Matsumoto, Daniel Boveda-Ruiz, Paloma Gil-Bernabe, Mizuho Nagao, Mayumi Sugimoto, Yukiko Hiraguchi, Reiko Tokuda, Masahiro Naito, Takehiro Takagi, Corina N D'Alessandro-Gabazza, Shigeru Suga, Tetsu Kobayashi, Takao Fujisawa, Osamu Taguchi, Esteban C Gabazza +19 moredoaj +1 more sourceEosinophils in Autoimmune Diseases [PDF]
, 2017 Eosinophils are multifunctional granulocytes that contribute to initiation and modulation of inflammation. Their role in asthma and parasitic infections has long been recognized. Growing evidence now reveals a role for eosinophils in autoimmune diseases. Nicola L. Diny, Noel R. Rose, Daniela Čiháková, Diny, Nicola L., Rose, Noel, Čiháková, Daniela +5 morecore +1 more sourceActivated eosinophil plays a role in promoting fibrosis in endometriotic lesion
Scientific ReportsThe fibrosis mechanism in endometriosis is not elucidated. We investigated the role of eosinophil in fibrosis of endometriosis. The endometriotic stromal cells (ESCs) and endometrial epithelial cells (EECs) were subjected to in vitro experiments.Yosuke Ono, Kota Tanaka, Erina Sato, Masami Ito, Di Zhang, Masako Honda, Tatsuyuki Ogawa, Hikaru Tagaya, Tomohiko Fukuda, Youichi Shinozaki, Kazuyoshi Kato, Schuichi Koizumi, Osamu Yoshino +12 moredoaj +1 more sourceRationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background
Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.Ramón Moreno‐Luna, Carmen Palma‐Martínez, Serafin Sánchez‐Gómez, Isam Alobid, Daniel Martin‐Jimenez, José Miguel Villacampa‐Aubá, Christian Calvo‐Henríquez, Alfonso Del Cuvillo, Alfonso Santamaría‐Gadea, Jaime González‐García, Richard J. Harvey, John M. DelGaudio +11 morewiley +1 more sourceHuman eosinophil-lymphocyte interactions
Memorias do Instituto Oswaldo Cruz, 1997 While the eosinophil's effector functions clearly can contribute to the pathogenesis of allergic diseases, the evolutionary benefit to having eosinophils as a distinct class of leukocytes is not clear, especially if one must reconsider the nominally ...Weller Peter F, Lim Kaiserdoaj Eosinophil Depletion with Benralizumab for Eosinophilic Esophagitis
New England Journal of MedicineBenralizumab is an eosinophil-depleting anti-interleukin-5 receptor α monoclonal antibody. The efficacy and safety of benralizumab in patients with eosinophilic esophagitis are unclear.In a phase 3, multicenter, double-blind, randomized, placebo-controlled trial, we assigned patients 12 to 65 years of age with symptomatic and histologically active ...Marc E Rothenberg 1, Evan S Dellon 1, Margaret H Collins 1, Albert J Bredenoord 1, Ikuo Hirano 1, Kathryn A Peterson 1, Laura Brooks 1, Julie M Caldwell 1, Harald Fjällbrant 1, Hanna Grindebacke 1, Calvin N Ho 1, Matthew Keith 1, Christopher McCrae 1, Dominic Sinibaldi 1, Wendy I White 1, Catherine J Datto 1, MESSINA Trial Investigators: Fabio Almerigogna, Ignacio Antepara Ercoreca, Ana María Alonso Llamazares, Laurent Alric, Dhandapani Ashok, Kevin Bax, Lindsey McLeish, María Basagaña Torrentó, Amir Ben Tov, Adi Anafy, Dmitry S Bordin, Elen R Valitova, Albert J Bredenoord, M Laura Haasnoot, Aaltje Lei, Marco Caminati, Mirna Chehade, Constanza Ciriza de Los Ríos, Steven Clayton, Anca Mihaela Safta, Prerana Williamson, Elżbieta Czkwianianc, Wit Danilkiewicz, Nicola De Bortoli, Santino Marchi, Evan Dellon, Anjan Dhar, Rafael Firszt, Natalia Filipof, Ronald Fogel, Yasuhiro Fujiwara, Beata Gawdis-Wojnarska, Maciej Gonciarz, Nirmala Gonsalves, Frédéric Gottrand, Matthieu Antoine, Ian M Gralnek, Matthieu Groh, Catherine Nizou, Mar Guilarte Clavero, Laura Company-Sapiña, Ingrid Johana Gil, Paula Galván-Blasco, Thirumazhisai Gunasekaran, Jamal Hayat, Samantha Baillie, Attah Ocholi, Abigail Seward, Enrico Heffler, Alessandro Repici, Gaia Pellegatta, Francesca Racca, Navneet Hundal, Norihisa Ishimura, Eiko Okimoto, Anand S Jain, Halley Fowler, Maria Janiak, Jayaprakash Kamath, Showkat Hossain, Sergey Kashin, Jun Kato, Sibylle Koletzko, Hannes Leon, Tobias Schwerd, Bartosz Korczowski, Michał Korczowski, Natalya Krasnopeeva, Santhosh Kumar, Guillaume Lefevre, Jaroslaw Leszczyszyn, John Leung, Evan Cunningham, Joel Liem, Lindsay Douglas, Tracey Bondy, Delina Copland, Amanda Vieira, Maxime Luu, Kristle Lee Lynch, Jonathan Matz, François Mion, Sabine Roman, Ziva Mrevlje-Roman, Zdenka Cipinova, Rosa Muñoz-Cano, Gemma Lopez, Jason Ohayon, Sibgha Rehman, Vaidehi Bhatt, Gurnoor Walia, Robert Pesek, Erin Thomas, Safin Attwal, Kathryn Peterson, Amy Holman, Mohammed Mannan, Anupama Ravi, Imad Absah, Puanani Hopson, Yehuda Ringel, Marc Rothenberg, Kara Kliewer, Cristin Murray Petzold, Vincent Mukkada, Phil Putnam, Scott Bolton, Justin Schwartz, Pablo Abonia, Erinn Kellner, Ashley Devonshire, Frederick Ruthardt, Cecilio Santander Vaquero, Sergio Casabona Francés, Teresa Pérez Fernandez, Verónica Martin Domínguez, Pedro Majano Rodriguez, Francisca Molina Jiménez, Jennifer Fernandez Pacheco, Ellen Sher, Gary Gross, Jacqueline Ross, Ulyana Trytko, Peter Siersema, Dareen Siri, María Luisa Somoza Álvarez, Kathrin Sprinzl, Anna Stanziola, Miguel Stein, Robert Szalewski, Vinay Mehta, Alexander Trukhmanov, Vladimir Ivashkin, Tatiana Lapina, Toshio Uraoka, Christoph Schlag, Simon Weidlich, Jörg Ulrich, Bas Weusten, Phillip Woodland, William Yang, Patrizia Zentilin, Manuele Furnari, Elisabetta Giuliana, Giorgia Bodini, Elisa Marabotto, Frank Zerbib, Noam Zevit, Maciej Żymła +164 moreopenaire +5 more sources
