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Journal Abstract Search

142 related items for PubMed ID: 30468864

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  • 2. Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.
    Amodei L, Ruggieri AG, Potenza F, Viele M, Dufrusine B, Franciotti R, Pietrangelo L, Ardini M, Stuppia L, Federici L, De Laurenzi V, Sallese M.
    J Transl Med; 2024 Aug 23; 22(1):787. PubMed ID: 39180052
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  • 3. Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.
    Kawahara G, Hayashi YK.
    PLoS One; 2016 Aug 23; 11(10):e0165563. PubMed ID: 27792754
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  • 7. PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells.
    Capone V, Clemente E, Restelli E, Di Campli A, Sperduti S, Ornaghi F, Pietrangelo L, Protasi F, Chiesa R, Sallese M.
    Biochim Biophys Acta Mol Basis Dis; 2018 Oct 23; 1864(10):3164-3180. PubMed ID: 30293566
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  • 8. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
    Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.
    Brain; 2013 Dec 23; 136(Pt 12):3634-44. PubMed ID: 24176978
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  • 10. SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
    Inaguma Y, Hamada N, Tabata H, Iwamoto I, Mizuno M, Nishimura YV, Ito H, Morishita R, Suzuki M, Ohno K, Kumagai T, Nagata K.
    EMBO Mol Med; 2014 Mar 23; 6(3):414-29. PubMed ID: 24473200
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