Works matching Skeletal abnormalities

Results: 2541
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    Inhibition of xanthine oxidase in the acute phase of myocardial infarction prevents skeletal muscle abnormalities and exercise intolerance.

    Published in:
    Cardiovascular Research, 2021, v. 117, n. 3, p. 805, doi. 10.1093/cvr/cvaa127
    By:
    • Nambu, Hideo;
    • Takada, Shingo;
    • Maekawa, Satoshi;
    • Matsumoto, Junichi;
    • Kakutani, Naoya;
    • Furihata, Takaaki;
    • Shirakawa, Ryosuke;
    • Katayama, Takashi;
    • Nakajima, Takayuki;
    • Yamanashi, Katsuma;
    • Obata, Yoshikuni;
    • Nakano, Ippei;
    • Tsuda, Masaya;
    • Saito, Akimichi;
    • Fukushima, Arata;
    • Yokota, Takashi;
    • Nio-Kobayashi, Junko;
    • Yasui, Hironobu;
    • Higashikawa, Kei;
    • Kuge, Yuji
    Publication type:
    Article
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    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
    By:
    • Tiosano, Dov;
    • Baris, Hagit N.;
    • Chen, Anlu;
    • Hitzert, Marrit M.;
    • Schueler, Markus;
    • Gulluni, Federico;
    • Wiesener, Antje;
    • Bergua, Antonio;
    • Mory, Adi;
    • Copeland, Brett;
    • Gleeson, Joseph G.;
    • Rump, Patrick;
    • van Meer, Hester;
    • Sival, Deborah A.;
    • Haucke, Volker;
    • Kriwinsky, Josh;
    • Knaup, Karl X.;
    • Reis, André;
    • Hauer, Nadine N.;
    • Hirsch, Emilio
    Publication type:
    Article
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    Skeletal abnormalities are common features in Aymé‐Gripp syndrome.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
    By:
    • Niceta, Marcello;
    • Barbuti, Domenico;
    • Gupta, Neerja;
    • Ruggiero, Carlos;
    • Tizzano, Eduardo F.;
    • Graul‐Neumann, Luitgard;
    • Barresi, Sabina;
    • Nishimura, Gen;
    • Valenzuela, Irene;
    • López‐Grondona, Fermina;
    • Fernandez‐Alvarez, Paula;
    • Leoni, Chiara;
    • Zweier, Christiane;
    • Tzschach, Andreas;
    • Stellacci, Emilia;
    • Del Fattore, Andrea;
    • Dallapiccola, Bruno;
    • Zampino, Giuseppe;
    • Tartaglia, Marco
    Publication type:
    Article
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    Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020666
    By:
    • Li, Ping;
    • Fleischhauer, Lutz;
    • Nicolae, Claudia;
    • Prein, Carina;
    • Farkas, Zsuzsanna;
    • Saller, Maximilian Michael;
    • Prall, Wolf Christian;
    • Wagener, Raimund;
    • Heilig, Juliane;
    • Niehoff, Anja;
    • Clausen-Schaumann, Hauke;
    • Alberton, Paolo;
    • Aszodi, Attila
    Publication type:
    Article
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    Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities.

    Published in:
    PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0125936
    By:
    • Teves, Maria Eugenia;
    • Sundaresan, Gobalakrishnan;
    • Cohen, David J.;
    • Hyzy, Sharon L.;
    • Kajan, Illya;
    • Maczis, Melissa;
    • Zhang, Zhibing;
    • Costanzo, Richard M.;
    • Zweit, Jamal;
    • Schwartz, Zvi;
    • Boyan, Barbara D.;
    • IIIStrauss, Jerome F.
    Publication type:
    Article
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