Works matching DE "FRAMESHIFT mutation"

Results: 1092
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    C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

    Published in:
    Acta Neuropathologica, 2023, v. 145, n. 6, p. 793, doi. 10.1007/s00401-023-02565-1
    By:
    • Ervilha Pereira, Pedro;
    • Schuermans, Nika;
    • Meylemans, Antoon;
    • LeBlanc, Pontus;
    • Versluys, Lauren;
    • Copley, Katie E.;
    • Rubien, Jack D.;
    • Altheimer, Christopher;
    • Peetermans, Myra;
    • Debackere, Elke;
    • Vanakker, Olivier;
    • Janssens, Sandra;
    • Baets, Jonathan;
    • Verhoeven, Kristof;
    • Lammens, Martin;
    • Symoens, Sofie;
    • De Paepe, Boel;
    • Barmada, Sami J.;
    • Shorter, James;
    • De Bleecker, Jan L.
    Publication type:
    Article
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    Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 2, p. 277, doi. 10.1007/s00401-019-02094-w
    By:
    • Thomas, Christian;
    • Wefers, Annika;
    • Bens, Susanne;
    • Nemes, Karolina;
    • Agaimy, Abbas;
    • Oyen, Florian;
    • Vogelgesang, Silke;
    • Rodriguez, Fausto J.;
    • Brett, Francesca M.;
    • McLendon, Roger;
    • Bodi, Istvan;
    • Burel-Vandenbos, Fanny;
    • Keyvani, Kathy;
    • Tippelt, Stefan;
    • Poulsen, Frantz R.;
    • Lipp, Eric S.;
    • Giannini, Caterina;
    • Reifenberger, Guido;
    • Kuchelmeister, Klaus;
    • Pietsch, Torsten
    Publication type:
    Article
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    HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

    Published in:
    Acta Neuropathologica, 2017, v. 134, n. 1, p. 163, doi. 10.1007/s00401-017-1724-8
    By:
    • Echaniz-Laguna, Andoni;
    • Lornage, Xavière;
    • Lannes, Béatrice;
    • Schneider, Raphaël;
    • Bierry, Guillaume;
    • Dondaine, Nicolas;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Böhm, Johann;
    • Thompson, Julie;
    • Laporte, Jocelyn;
    • Biancalana, Valérie
    Publication type:
    Article
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    A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1060547
    By:
    • Tricarico, Paola Maura;
    • Gratton, Rossella;
    • André dos Santos-Silva, Carlos;
    • Rodrigues de Moura, Ronald;
    • Ura, Blendi;
    • Sommella, Eduardo;
    • Campiglia, Pietro;
    • Del Vecchio, Cecilia;
    • Moltrasio, Chiara;
    • Berti, Irene;
    • D’Adamo, Adamo Pio;
    • Elsherbini, Ahmed M. A.;
    • Staudenmaier, Lena;
    • Chersi, Karin
    Publication type:
    Article
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    Is HLA type a possible cancer risk modifier in Lynch syndrome?

    Published in:
    International Journal of Cancer, 2023, v. 152, n. 10, p. 2024, doi. 10.1002/ijc.34312
    By:
    • Ahadova, Aysel;
    • Witt, Johannes;
    • Haupt, Saskia;
    • Gallon, Richard;
    • Hüneburg, Robert;
    • Nattermann, Jacob;
    • ten Broeke, Sanne;
    • Bohaumilitzky, Lena;
    • Hernandez‐Sanchez, Alejandro;
    • Santibanez‐Koref, Mauro;
    • Jackson, Michael S.;
    • Ahtiainen, Maarit;
    • Pylvänäinen, Kirsi;
    • Andini, Katarina;
    • Grolmusz, Vince Kornel;
    • Möslein, Gabriela;
    • Dominguez‐Valentin, Mev;
    • Møller, Pål;
    • Fürst, Daniel;
    • Sijmons, Rolf
    Publication type:
    Article
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    Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37277-3
    By:
    • Papadopoulos, Nicolas;
    • Nédélec, Audrey;
    • Derenne, Allison;
    • Şulea, Teodor Asvadur;
    • Pecquet, Christian;
    • Chachoua, Ilyas;
    • Vertenoeil, Gaëlle;
    • Tilmant, Thomas;
    • Petrescu, Andrei-Jose;
    • Mazzucchelli, Gabriel;
    • Iorga, Bogdan I.;
    • Vertommen, Didier;
    • Constantinescu, Stefan N.
    Publication type:
    Article
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    Integrative genetic analysis illuminates ALS heritability and identifies risk genes.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35724-1
    By:
    • Megat, Salim;
    • Mora, Natalia;
    • Sanogo, Jason;
    • Roman, Olga;
    • Catanese, Alberto;
    • Alami, Najwa Ouali;
    • Freischmidt, Axel;
    • Mingaj, Xhuljana;
    • De Calbiac, Hortense;
    • Muratet, François;
    • Dirrig-Grosch, Sylvie;
    • Dieterle, Stéphane;
    • Van Bakel, Nick;
    • Müller, Kathrin;
    • Sieverding, Kirsten;
    • Weishaupt, Jochen;
    • Andersen, Peter Munch;
    • Weber, Markus;
    • Neuwirth, Christoph;
    • Margelisch, Markus
    Publication type:
    Article
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    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

    Published in:
    Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
    By:
    • Napolitano, Filomena;
    • Dell'Aquila, Milena;
    • Terracciano, Chiara;
    • Franzese, Giuseppina;
    • Gentile, Maria Teresa;
    • Piluso, Giulio;
    • Santoro, Claudia;
    • Colavito, Davide;
    • Patanè, Anna;
    • De Blasiis, Paolo;
    • Sampaolo, Simone;
    • Paladino, Simona;
    • Melone, Mariarosa Anna Beatrice
    Publication type:
    Article