Results 181 to 190 of about 1,544,422 (378)
Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes
Animal Research and One Health, EarlyView.The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue +12 morewiley +1 more sourceAnalytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of TP53 Missense Mutation in Prostate Cancer
Clinical Cancer Research, 2017 Liana B. Guedes, Fawaz Almutairi, Michael C. Haffner, G. Rajoria, Zach Liu, Szczepan Klimek, Roberto Zoino, K. Yousefi, Rajni B. Sharma, A. D. De Marzo, G. Netto, W. Isaacs, A. Ross, E. Schaeffer, T. Lotan +14 moresemanticscholar +1 more sourceA transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy [PDF]
, 2003 Umrao R. Monani, Matthew Pastore, Tatiana Gavrilina, Sibylle Jablonka, Thanh T. Le, Catia Andreassi, Jennifer M. DiCocco, Christian L. Lorson, Elliot J. Androphy, Michael Sendtner, Michael Podell, Arthur H.M. Burghes +11 moreopenalex +1 more sourceAmerican College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Arthritis &Rheumatology, EarlyView.Objective
Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson +111 morewiley +1 more sourceDiagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants
Arthritis &Rheumatology, EarlyView.Objective
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez Rojas, Alicia Diaz Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, Gsrsnk Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee +55 morewiley +1 more sourceTwenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]
, 2019 Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P +9 morecore +2 more sourcesDecision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome
Arthritis &Rheumatology, Accepted Article.Objective
To develop evidence‐based criteria to classify SURF patients. Methods
112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto +54 morewiley +1 more source
