Ribosomopathies and the paradox of cellular hypo- to hyperproliferation.
Ribosomopathies and the paradox of cellular hypo- to hyperproliferation.
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DOI：
10.1182/blood-2014-10-569616
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发表时间：
2015-02-26
期刊：
影响因子：
20.3
通讯作者：
Dinman JD
中科院分区：
文献类型：
--
作者：
De Keersmaecker K;Sulima SO;Dinman JD
核糖体病主要是与核糖体蛋白或生物发生因子的缺陷有关的先天性疾病。这些疾病中的一些以低增殖表型为特征，例如生命早期的骨髓衰竭和贫血，随后在生命后期癌症风险升高。这种从低增殖到高增殖的转变在血液学领域提出了一个有趣的悖论，称为“Dameshek之谜”。最近的癌症测序研究还揭示了T细胞急性淋巴细胞白血病（T-ALL）和实体瘤中核糖体蛋白的体细胞获得性突变和缺失，进一步扩展了核糖体病的列表，并加强了核糖体缺陷与肿瘤发生之间的关联。从这个角度来看，我们总结并评论了核糖体病领域的最新发现。我们解释如何核糖体病可能提供线索，以帮助解释Dameshek的悖论，并强调一些开放的问题和挑战，在该领域。
Ribosomopathies are largely congenital diseases linked to defects in ribosomal proteins or biogenesis factors. Some of these disorders are characterized by hypoproliferative phenotypes such as bone marrow failure and anemia early in life, followed by elevated cancer risks later in life. This transition from hypo- to hyperproliferation presents an intriguing paradox in the field of hematology known as ‘Dameshek’s riddle.’ Recent cancer sequencing studies also revealed somatically acquired mutations and deletions in ribosomal proteins in T-cell acute lymphoblastic leukemia (T-ALL) and solid tumors, further extending the list of ribosomopathies and strengthening the association between ribosomal defects and oncogenesis. In this perspective, we summarize and comment on recent findings in the field of ribosomopathies. We explain how ribosomopathies may provide clues to help explain Dameshek’s paradox and highlight some of the open questions and challenges in the field.
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影响因子：
64.8
作者：
Ebert, Benjamin L.;Pretz, Jennifer;Bosco, Jocelyn;Chang, Cindy Y.;Tamayo, Pablo;Galili, Naomi;Raza, Azra;Root, David E.;Attar, Eyal;Ellis, Steven R.;Golub, Todd R.
通讯作者：
Golub, Todd R.
影响因子：
4.5
作者：
Heijnen HF;van Wijk R;Pereboom TC;Goos YJ;Seinen CW;van Oirschot BA;van Dooren R;Gastou M;Giles RH;van Solinge W;Kuijpers TW;Gazda HT;Bierings MB;Da Costa L;MacInnes AW
通讯作者：
MacInnes AW
影响因子：
30.8
作者：
De Keersmaecker K;Atak ZK;Li N;Vicente C;Patchett S;Girardi T;Gianfelici V;Geerdens E;Clappier E;Porcu M;Lahortiga I;Lucà R;Yan J;Hulselmans G;Vranckx H;Vandepoel R;Sweron B;Jacobs K;Mentens N;Wlodarska I;Cauwelier B;Cloos J;Soulier J;Uyttebroeck A;Bagni C;Hassan BA;Vandenberghe P;Johnson AW;Aerts S;Cools J
通讯作者：
Cools J
影响因子：
20.3
作者：
Devlin, Emily E.;DaCosta, Lydie;Bodine, David M.
通讯作者：
Bodine, David M.
影响因子：
9.8
作者：
Gazda, Hanna T.;Sheen, Mee Rie;Beggs, Alan H.
通讯作者：
Beggs, Alan H.