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CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. Sargolzaeiaval F, et al. Among authors: zhang j. Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393977 Free PMC article.
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
Kandhaya-Pillai R, Hou D, Zhang J, Yang X, Compoginis G, Mori T, Tchkonia T, Martin GM, Hisama FM, Kirkland JL, Oshima J. Kandhaya-Pillai R, et al. Among authors: zhang j. Geroscience. 2021 Jun;43(3):1481-1496. doi: 10.1007/s11357-020-00318-6. Epub 2021 Jan 5. Geroscience. 2021. PMID: 33428109 Free PMC article.
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