Found: 4

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  • A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

    Published in:
    Experimental Dermatology, 2019, v. 28, n. 10, p. 1106, doi. 10.1111/exd.13542
    By:
    • Easton, Jennifer A.;
    • Albuloushi, Ahmad K.;
    • Kamps, Miriam A. F.;
    • Brouns, Gladys H. M. R.;
    • Broers, Jos L. V.;
    • Coull, Barry J.;
    • Oji, Vincent;
    • van Geel, Michel;
    • van Steensel, Maurice A. M.;
    • Martin, Patricia E.
    Publication type:
    Article

  • Birt–Hogg–Dubé syndrome is a novel ciliopathy.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 21, p. 4383, doi. 10.1093/hmg/ddt288
    By:
    • Luijten, Monique N.H.;
    • Basten, Sander G.;
    • Claessens, Tijs;
    • Vernooij, Marigje;
    • Scott, Claire L.;
    • Janssen, Renske;
    • Easton, Jennifer A.;
    • Kamps, Miriam A.F.;
    • Vreeburg, Maaike;
    • Broers, Jos L.V.;
    • van Geel, Michel;
    • Menko, Fred H.;
    • Harbottle, Richard P.;
    • Nookala, Ravi K.;
    • Tee, Andrew R.;
    • Land, Stephen C.;
    • Giles, Rachel H.;
    • Coull, Barry J.;
    • van Steensel, Maurice A.M.
    Publication type:
    Article

  • The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2640, doi. 10.1172/JCI71749
    By:
    • Ming Yan;
    • Gingras, Marie-Claude;
    • Dunlop, Elaine A.;
    • Nouët, Yann;
    • Dupuy, Fanny;
    • Jalali, Zahra;
    • Possik, Elite;
    • Coull, Barry J.;
    • Kharitidi, Dmitri;
    • Bondo Dydensborg, Anders;
    • Faubert, Brandon;
    • Kamps, Miriam;
    • Sabourin, Sylvie;
    • Preston, Rachael S.;
    • Davies, David Mark;
    • Roughead, Taren;
    • Chotard, Laëtitia;
    • van Steensel, Maurice A. M.;
    • Jones, Russell;
    • Tee, Andrew R.
    Publication type:
    Article

  • Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1652, doi. 10.1002/ajmg.a.61264
    By:
    • Vos, Ivo J. H. M.;
    • Wong, Arnette Shi Wei;
    • Welting, Tim J. M.;
    • Coull, Barry J.;
    • Steensel, Maurice A. M.
    Publication type:
    Article