Intractable & Rare Diseases Research

miR-141-3p-loaded extracellular vesicles ameliorate intrahepatic bile duct stone disease by decreasing MUC5AC expression via the MAPK pathway.

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

鉴定出一种与 CHOPS 综合征相关的新的从头 AFF4 变异 (c.778A>G)

Role of IFITM2 in osteogenic differentiation of C3H10T1/2 mesenchymal stem cells

IFITM2在C3H10T1/2间充质干细胞成骨分化中的作用

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China

采用区域性 HRM 技术筛查中国山东省 MMACHC 携带者是否患有甲基丙二酸血症和同型胱氨酸尿症

Circ_KIAA0922 regulates Saos-2 cell proliferation and osteogenic differentiation by regulating the miR-148a-3p/SMAD5 axis and activating the TGF-β signaling pathway

Circ_KIAA0922通过调节miR-148a-3p/SMAD5轴和激活TGF-β信号通路来调节Saos-2细胞增殖和成骨分化

Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45

在中国患有发育性和癫痫性脑病 45 的患者中鉴定出新的和新生的 GABRB1 突变

The novel role of IFITM1-3 in myogenic differentiation of C2C12 cells

IFITM1-3 在 C2C12 细胞成肌分化中的新作用

array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants.

阵列比较基因组杂交（array-CGH）显示，在 49,XXXXY 核型中 Yp11.2 有扩增，在 48,XXYY 核型中 Xp22.33 有扩增，这是两种罕见的克氏综合征变异体

Increased CD27 expression in the skins and sera of patients with systemic sclerosis

系统性硬化症患者皮肤和血清中 CD27 表达增加

Reactive astrocytes express Aggregatin (FAM222A) in the brains of Alzheimer's disease and Nasu-Hakola disease

反应性星形胶质细胞在阿尔茨海默病和 Nasu-Hakola 病患者的大脑中表达聚集蛋白 (FAM222A)