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收藏Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophyBerardinelli-seip先天性脂肪营养不良的表观遗传衰老和DNA甲基化改变的加速
Qannan, Abeer; Bejaoui, Yosra; Izadi, Mahmoud; Yousri, Noha A.; Razzaq, Aleem; Christiansen, Colette; Martin, George M.; Bell, Jordana T.; Horvath, Steve; Oshima, Junko; Megarbane, Andre; Ericsson, Johan; Pourkarimi, Ehsan; Hajj, Nady El
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收藏Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases靶向长读测序可确定未解决的Werner综合征病例中缺失的致病变异
Miller, Danny E.; Lee, Lin; Galey, Miranda; Kandhaya-Pillai, Renuka; Tischkowitz, Marc; Amalnath, Deepak; Vithlani, Avadh; Yokote, Koutaro; Kato, Hisaya; Maezawa, Yoshiro; Takada-Watanabe, Aki; Takemoto, Minoru; Martin, George M.; Eichler, Evan E.; Hisama, Fuki M.; Oshima, Junko
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收藏DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndromeHutchinson-gilford早衰综合征血液DNA的DNA甲基化特征
Bejaoui, Yosra; Razzaq, Aleem; Yousri, Noha A.; Oshima, Junko; Megarbane, Andre; Qannan, Abeer; Pottabatula, Ramya; Alam, Tanvir; Martin, George M.; Horn, Henning F.; Haaf, Thomas; Horvath, Steve; El Hajj, Nady
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收藏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, Renuka; Hou, Deyin; Zhang, Jiaming; Yang, Xiaomeng; Compoginis, Goli; Mori, Takayasu; Tchkonia, Tamara; Martin, George M.; Hisama, Fuki M.; Kirkland, James L.; Oshima, Junko
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收藏Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
Hussain, Iram; Jin, Ruilin Raelene; Baum, Howard B. A.; Greenfield, Jerry R.; Devery, Sophie; Xing, Chao; Hegele, Robert A.; Carranza-Leon, Barbara G.; Linton, Macrae F.; Vuitch, Frank; Wu, Kathy H. C.; Precioso, Debora Rossi; Oshima, Junko; Agarwal, Anil K.; Garg, Abhimanyu
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收藏Cell-to-Cell Variation in Gene Expression for Cultured Human Cells Is Controlled in Trans by Diverse Genes: Implications for the Pathobiology of Aging
Zhang, Jiaming; Burnaevskiy, Nikolay; Annis, James; Han, Wenyan; Hou, Deyin; Ladd, Paula; Lee, Lin; Mendenhall, Alexander R.; Oshima, Junko; Martin, George M.
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收藏Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies适用于Hutchinson Gilford Progeria综合征和离体研究的皮肤和血细胞的表观遗传时钟
Horvath, Steve; Oshima, Junko; Martin, George M.; Lu, Ake T.; Quach, Austin; Cohen, Howard; Felton, Sarah; Matsuyama, Mieko; Lowe, Donna; Kabacik, Sylwia; Wilson, James G.; Reiner, Alex P.; Maierhofer, Anna; Flunkert, Julia; Aviv, Abraham; Hou, Lifang; Baccarelli, Andrea A.; Li, Yun; Stewart, James D.; Whitsel, Eric A.; Ferrucci, Luigi; Matsuyama, Shigemi; Raj, Kenneth
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收藏ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
Mori, Takayasu; Yousefzadeh, Matthew J.; Faridounnia, Maryam; Chong, Jessica X.; Hisama, Fuki M.; Hudgins, Louanne; Mercado, Gabriela; Wade, Erin A.; Barghouthy, Amira S.; Lee, Lin; Martin, George M.; Nickerson, Deborah A.; Bamshad, Michael J.; Niedernhofer, Laura J.; Oshima, Junko
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收藏Dysfunction of the MDM2/p53 axis is linked to premature aging
Lessel, Davor; Wu, Danyi; Trujillo, Carlos; Ramezani, Thomas; Lessel, Ivana; Alwasiyah, Mohammad K.; Saha, Bidisha; Hisama, Fuki M.; Rading, Katrin; Goebel, Ingrid; Schuetz, Petra; Speit, Guenter; Hoegel, Josef; Thiele, Holger; Nuernberg, Gudrun; Nuernberg, Peter; Hammerschmidt, Matthias; Zhu, Yan; Tong, David R.; Katz, Chen; Martin, George M.; Oshima, Junko; Prives, Carol; Kubisch, Christian
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