Results 1 to 10 of about 4,798,414 (293)

Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease [PDF]

EMBO Molecular Medicine
Genome sequencing is the first-line diagnostic method for primary mitochondrial diseases (PMDs), yet its effectiveness is limited by variants of uncertain significance or unresolved genetic findings.
Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, Jessica C Lee, Kaz M Knight, Tonia E Donovan, Lori Silveira, Rebecca D Ganetzky, Michio Hirano, Jose Abdenur, Merlin G Butler, David Cassiman, Bruce H Cohen, Sarah H Elsea, Gregory M Enns, William A Gahl, Ralitza Gavrilova, Gabrielle C Geddes, Emma E Glamuzina, Amy Goldstein, Richard H Haas, Aneal Khan, Kimberly A Kripps, Austin A Larson, April N Lehman, Uta Lichter-Konecki, Johannes A Mayr, Eva Morava, James T Peterson, Jill A Rosenfeld, Russell P Saneto, Fernando Scaglia, Emily Shelkowitz, Mariella Simon, Joél E G Smet, Wendy E Smith, Claudia Soler-Alfonso, Mark Tarnopolsky, Rudy N A Van Coster, Arnaud V Vanlander, Pieter Vermeersch, Jerry Vockley, Kristen Wigby, Lynne A Wolfe, Saskia B Wortmann, Jennifer H Yang   +45 more
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An Optimized and Standardized Rapid Flow Cytometry Functional Method for Heparin-Induced Thrombocytopenia

Biomedicines, 2021
Heparin-induced thrombocytopenia (HIT) is a thrombocytopenia caused by heparin and mediated by an atypical immune mechanism leading to a paradoxical high thrombotic risk, associated with severe morbidity or death. The diagnosis of HIT combines a clinical
Anne Runser, Caroline Schaning, Frédéric Allemand, Jean Amiral   +3 more
doaj   +2 more sources

Functional drug susceptibility testing using single-cell mass predicts treatment outcome in patient-derived cancer neurosphere models

Cell Reports, 2021
Summary: Functional precision medicine aims to match individual cancer patients to optimal treatment through ex vivo drug susceptibility testing on patient-derived cells.
Max A. Stockslager, Seth Malinowski, Mehdi Touat, Jennifer C. Yoon, Jack Geduldig, Mahnoor Mirza, Annette S. Kim, Patrick Y. Wen, Kin-Hoe Chow, Keith L. Ligon, Scott R. Manalis   +10 more
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Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden [PDF]

Journal of Translational Medicine
Background Splice-altering variants (SAVs), particularly those outside canonical splice sites, are an underappreciated contributor to inherited cardiovascular diseases.
Rudy Celeghin, Giulia Tosato, Serena Pinci, Francesca Dalla Zanna, Maria Bueno Marinas, Marco Cason, Cristina Basso, Kalliopi Pilichou   +7 more
doaj   +2 more sources

Crucial role of telomere maintenance-related genes in survival prediction and subtype identification in colorectal cancer [PDF]

Frontiers in Molecular Biosciences
BackgroundTelomere maintenance-related genes (TMRGs) are implicated in Colorectal cancer (CRC) development, but their prognostic value and clinical relevance remain insufficiently explored.
Feng Huang, Jung-Yin Fong, Chin Tat Ng, Karthikkumar Venkatachalam, Mohammed Abdullah Alshawsh, Mohammed Abdullah Alshawsh, Chun-Wai Mai, Yik-Ling Chew, Malarvili Selvaraja, Malarvili Selvaraja   +9 more
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ORGAVADS: establishment of tumor organoids from head and neck squamous cell carcinoma to assess their response to innovative therapies

BMC Cancer, 2023
Background Radiotherapy is one of the cornerstones of the treatment of Head and Neck Squamous Cell Carcinomas (HNSCC). However, radioresistance is associated with a high risk of recurrence.
Marion Perréard, Romane Florent, Jordane Divoux, Jean-Michel Grellard, Justine Lequesne, Mélanie Briand, Bénédicte Clarisse, Nathalie Rousseau, Esther Lebreton, Brice Dubois, Valentin Harter, Audrey Lasne-Cardon, Julien Drouet, Alisson Johnson, Anne-Laure Le Page, Céline Bazille, Corinne Jeanne, Martin Figeac, Nicolas Goardon, Dominique Vaur, Emmanuel Micault, Maxime Humbert, Juliette Thariat, Emmanuel Babin, Laurent Poulain, Louis-Bastien Weiswald, Vianney Bastit   +26 more
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The TRIPLEX study: use of patient-derived tumor organoids as an innovative tool for precision medicine in triple-negative breast cancer

BMC Cancer, 2023
Background Triple negative breast cancers (TNBC) account for approximately 15% of all breast cancers and are associated with a shorter median survival mainly due to locally advanced tumor and high risk of metastasis. The current neoadjuvant treatment for
Jordane Divoux, Romane Florent, Margaux Jacobs, Justine Lequesne, Jean-Michel Grellard, Chankannira San, Sara Grossi, Katia Kerdja, Bénédicte Clarisse, Gwenaelle Boudier, François Cherifi, Mélanie Briand, Enora Dolivet, Alisson Johnson, Brice Dubois, Valentin Harter, Joëlle Lacroix, Charlotte Raboutet, Brigitte Marie, Nathalie Rousseau, Cécile Blanc-Fournier, Dominique Vaur, Martin Figeac, Laurent Poulain, Louis-Bastien Weiswald, George Emile   +25 more
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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

npj Genomic Medicine, 2022
Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the results has been ...
Edwin S. Iversen, Gary Lipton, Steven N. Hart, Kun Y. Lee, Chunling Hu, Eric C. Polley, Tina Pesaran, Amal Yussuf, Holly LaDuca, Elizabeth Chao, Rachid Karam, David E. Goldgar, Fergus J. Couch, Alvaro N. A. Monteiro   +13 more
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The role of patient-derived ovarian cancer organoids in the study of PARP inhibitors sensitivity and resistance: from genomic analysis to functional testing

Journal of Experimental & Clinical Cancer Research, 2021
Epithelial ovarian cancer (EOC) harbors distinct genetic features such as homologous recombination repair (HRR) deficiency, and therefore may respond to poly ADP-ribose polymerase inhibitors (PARPi).
Mengyu Tao, Xia Wu
doaj   +1 more source

Sensitivity of three thyrotropin receptor antibody assays in thyroid-associated orbitopathy [PDF]

Journal of Medical Biochemistry, 2022
Background: Thyrotropin receptor autoantibodies (TSH-RAb) are indispensable biomarkers in the laboratory assessment of thyroid-associated orbitopathy (TAO).
Sarić-Matutinović Marija, Diana Tanja, Nedeljković-Beleslin Biljana, Ćirić Jasmina, Žarković Miloš, Perović-Blagojević Iva, Kahaly George J., Ignjatović Svetlana   +7 more
doaj   +1 more source