Works about GAIN-of-function mutations

Results: 1002
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    Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.

    Published in:
    Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01907-w
    By:
    • Diab, Farah;
    • Louvrier, Camille;
    • Fabre, Marc;
    • Lin, Christine;
    • Rabbaa, Mira;
    • Assrawi, Eman;
    • Daskalopoulou, Aphrodite;
    • Mani, Rahma;
    • Dastot Le Moal, Florence;
    • Piterboth, William;
    • Legendre, Marie;
    • Amselem, Serge;
    • Karabina, Sonia Athina;
    • Giurgea, Irina
    Publication type:
    Article
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    Amitriptyline use in individuals with KCNQ2/3 gain‐of‐function variants: A retrospective cohort study.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 5, p. 1628, doi. 10.1111/epi.18310
    By:
    • De Wachter, Matthias;
    • Millevert, Charissa;
    • Nicolai, Joost;
    • Cats, Elisabeth;
    • Kluger, Gerhard;
    • Milh, Mathieu;
    • Cloarec, Robin;
    • Syrbe, Steffen;
    • Arts, Katrijn;
    • Jansen, Katrien;
    • Krygier, Magdalena;
    • Smigiel, Robert;
    • Auvin, Stephane;
    • Olofson, Kern;
    • Gjerulfsen, Cathrine Elisabeth;
    • Ceulemans, Berten;
    • Møller, Rikke S.;
    • Bayat, Allan;
    • Weckhuysen, Sarah
    Publication type:
    Article
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    Memantine inhibits calcium-permeable AMPA receptors.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60543-5
    By:
    • Carrillo, Elisa;
    • Montaño Romero, Alejandra;
    • Gonzalez, Cuauhtemoc U.;
    • Turcu, Andreea L.;
    • Vázquez, Santiago;
    • Twomey, Edward C.;
    • Jayaraman, Vasanthi
    Publication type:
    Article
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    Celia's Encephalopathy (BSCL2 -Gene-Related): Current Understanding.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 7, p. 1435, doi. 10.3390/jcm10071435
    By:
    • Sánchez-Iglesias, Sofía;
    • Fernández-Pombo, Antía;
    • Cobelo-Gómez, Silvia;
    • Hermida-Ameijeiras, Álvaro;
    • Alarcón-Martínez, Helena;
    • Domingo-Jiménez, Rosario;
    • Ruíz Riquelme, Alejandro Iván;
    • Requena, Jesús R.;
    • Araújo-Vilar, David;
    • Collier, Andrew
    Publication type:
    Article
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    A Potential Theragnostic Regulatory Axis for Arthrofibrosis Involving Adiponectin (ADIPOQ) Receptor 1 and 2 (ADIPOR1 and ADIPOR2), TGFβ1, and Smooth Muscle α-Actin (ACTA2).

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3690, doi. 10.3390/jcm9113690
    By:
    • Bayram, Banu;
    • Owen, Aaron R.;
    • Dudakovic, Amel;
    • Dagneaux, Louis;
    • Turner, Travis W.;
    • Bettencourt, Jacob W.;
    • Limberg, Afton K.;
    • Tibbo, Meagan E.;
    • Morrey, Mark E.;
    • Sanchez-Sotelo, Joaquin;
    • Berry, Daniel J.;
    • Kocher, Jean-Pierre A.;
    • Wijnen, Andre J. van;
    • Abdel, Matthew P.
    Publication type:
    Article
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    Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 10, p. 3335, doi. 10.3390/jcm9103335
    By:
    • Tessarin, Giulio;
    • Rossi, Stefano;
    • Baronio, Manuela;
    • Gazzurelli, Luisa;
    • Colpani, Michael;
    • Benvenuto, Alessio;
    • Zunica, Fiammetta;
    • Cardinale, Fabio;
    • Martire, Baldassarre;
    • Brescia, Letizia;
    • Costagliola, Giorgio;
    • Luti, Laura;
    • Casazza, Gabriella;
    • Menconi, Maria Cristina;
    • Saettini, Francesco;
    • Palumbo, Laura;
    • Girelli, Maria Federica;
    • Badolato, Raffaele;
    • Lanzi, Gaetana;
    • Chiarini, Marco
    Publication type:
    Article
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    Defining function of wild-type and three patient-specific TP53 mutations in a zebrafish model of embryonal rhabdomyosarcoma.

    Published in:
    eLife, 2023, p. 1, doi. 10.7554/eLife.68221
    By:
    • Jiangfei Chen;
    • Baxi, Kunal;
    • Lipsitt, Amanda E.;
    • Hensch, Nicole Rae;
    • Long Wang;
    • Sreenivas, Prethish;
    • Paulomi Modi;
    • Xiang Ru Zhao;
    • Baudin, Antoine;
    • Robledo, Daniel G.;
    • Bandyopadhyay, Abhik;
    • Sugalski, Aaron;
    • Challa, Anil K.;
    • Kurmashev, Dias;
    • Gilbert, Andrea R.;
    • Tomlinson, Gail E.;
    • Houghton, Peter;
    • Yidong Chen;
    • Hayes, Madeline N.;
    • Chen, Eleanor Y.
    Publication type:
    Article
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    Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

    Published in:
    Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1279171
    By:
    • María García-Aznar, José;
    • Maneiro Pampín, Emilia;
    • García Ramos, Maite;
    • Acuña Pérez, María José;
    • Paz Gandiaga, Nerea;
    • Minguell Domingo, Laura;
    • Calavia, Olga;
    • Soler-Palacin, Pere;
    • Colobran, Roger;
    • Novoa Bolívar, Erika M.;
    • Ocejo Vinyals, Javier Gonzalo
    Publication type:
    Article
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    A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56995-4
    By:
    • El Masri, Rana;
    • Iannuzzo, Alberto;
    • Kuentz, Paul;
    • Tacine, Rachida;
    • Vincent, Marie;
    • Barbarot, Sébastien;
    • Morice-Picard, Fanny;
    • Boralevi, Franck;
    • Oillarburu, Naia;
    • Mazereeuw-Hautier, Juliette;
    • Duffourd, Yannis;
    • Faivre, Laurence;
    • Sorlin, Arthur;
    • Vabres, Pierre;
    • Delon, Jérôme
    Publication type:
    Article
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