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| 1 | Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction显示文摘Cockayne syndrome(CS)is a rare autosomal recessive inherited disorder characterized by a variety of clinical features,including increased sensitivity to sunlight,progressive neurological abnormalities,and the appearance of premature aging.However,the pathogenesis of CS remains unclear due to the limitations of current disease models.Here,we generate integration-free induced pluripotent stem cells(iPSCs)from fibroblasts from a CS patient bearing mutations in CSB/ERCC6 gene and further derive isogenic genecorrected CS-iPSCs(GC-iPSCs)using the CRISPR/Cas9 system.CS-associated phenotypic defects are recapitulated in CS-iPSC-derived mesenchymal stem cells(MSCs)and neural stem cells(NSCs),both of which display increased susceptibility to DNA damage stress.Premature aging defects in CS-MSCs are rescued by the targeted correction of mutant ERCC6.We next map the transcriptomic landscapes in CS-iPSCs and GC-iPSCs and their somatic stem cell derivatives(MSCs and NSCs)in the absence or presence of ultraviolet(UV)and replicative stresses,revealing that defects in DNA repair account for CS pathologies.Moreover,we generate autologous GC-MSCs free of pathogenic mutation under a cGMP(Current Good Manufacturing Practice)-compliant condition,which hold potential for use as improved biomaterials for future stem cell replacement therapy for CS.Collectively,our models demonstrate novel disease features and molecular mechanisms and lay a foundation for the development of novel therapeutic strategies to treat CS. | Si Wang Zheying Min Qianzhao Ji Lingling Geng Yao Su Zunpeng Liu Huifang Hu Lixia Wang Weiqi Zhang Keiichiro Suzuiki Yu Huang Puyao Zhang Tie-Shan Tang Jing Qu Yang Yu Guang-Hui Liu Jie Qiao | 2020 | Protein & Cell2020，11，1： | 7 |
| 2 | Cockayne's综合征临床特征与神经电生理变化:附5例报告显示文摘本综合征首先由Cockayne’s于1936年报告,是一种罕见常染色体隐性遗传病。我院自1987至1990年间确诊5例,其中3例经肌电图检查,提示周围神经病的特征以助诊断,国内尚无报道,现报告如下。 | 吴沪生 周文敏 叶其芬 张美和 徐赛英 李冬辉 刘世琳 | 1992 | 临床儿科杂志1992，10，1： | 1 |
| 3 | 着色性干皮病,Cokayne综合征和毛发硫营养不良:基因能解释这些病吗?显示文摘着色性干皮病,Cockagne综合征和毛发硫营养不良是对紫外线辐射敏感有关的3个不同的综合征.有证据表明这3个综合征彼此有重迭,都是由于参与核苷酸切除修复和RNA转录的基因突变引起。曾有人试图从DNA切除修复和转录缺陷来解释这3个综合征。但这两种生化途径很难说明3个综合征的所有症状。因此,提出第三种途径,这些综合征部分是由于参与甲基胞嘧啶切除的去甲基化机制缺陷引起。去甲基化障碍可能影响一些发育调控基因的表达。 | 王琳 张庭芬 王秉茹 | 1996 | 国外医学(遗传学分册)1996，19，6： | 0 |
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