Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

por Yang, Qi, Gong, Di, Yi, Shang, Luo, Jingsi, Zhang, Qinle
Publicado 2023

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

por Yang, Qi, Qin, Zailong, Zhang, Qinle, Yi, Shang, Yi, Sheng, Luo, Jingsi
Publicado 2022

The Transcriptional Profiling of Glycogenes Associated with Hepatocellular Carcinoma Metastasis

por Liu, Tianhua, Zhang, Shu, Chen, Jie, Jiang, Kai, Zhang, Qinle, Guo, Kun, Liu, Yinkun
Publicado 2014

GP73 N-glycosylation at Asn144 reduces hepatocellular carcinoma cell motility and invasiveness

por Jiang, Kai, Li, Wei, Zhang, Qinle, Yan, Guoquan, Guo, Kun, Zhang, Shu, Liu, Yinkun
Publicado 2016

Sorafenib induced alteration of protein glycosylation in hepatocellular carcinoma cells

por Liu, Tianhua, Liu, Riqiang, Zhang, Shu, Guo, Kun, Zhang, Qinle, Li, Wei, Liu, Yinkun
Publicado 2017

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

por Yang, Qi, Zhang, Qiang, Qin, Zailong, Zhang, Shujie, Yi, Sheng, Yi, Shang, Zhang, Qinle, Luo, Jingsi
Publicado 2023

De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

por Yang, Qi, Zhang, Qinle, Yi, Shang, Qin, Zailong, Shen, Fei, Ou, Shang, Luo, Jingsi, He, Sheng
Publicado 2022

Histidine-rich glycoprotein function in hepatocellular carcinoma depends on its N-glycosylation status, and it regulates cell proliferation by inhibiting Erk1/2 phosphorylation

por Zhang, Qinle, Jiang, Kai, Li, Yan, Gao, Dongmei, Sun, Lu, Zhang, Shu, Liu, Tianhua, Guo, Kun, Liu, Yinkun
Publicado 2015

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

por Yang, Qi, Xu, Hong, Luo, Jingsi, Li, Mengting, Yi, Sheng, Zhang, Qinle, Geng, Guoxing, Feng, Shihan, Fan, Xin
Publicado 2020

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene

por Yi, Sheng, Qin, Zailong, Zhou, Xunzhao, Chen, Junjie, Yi, Shang, Chen, Qiuli, Huang, Limei, Zhang, Qinle, Chen, Biyan, Luo, Jingsi
Publicado 2023

Clusterin Protects Hepatocellular Carcinoma Cells from Endoplasmic Reticulum Stress Induced Apoptosis through GRP78

por Wang, Cun, Jiang, Kai, Gao, Dongmei, Kang, Xiaonan, Sun, Chun, Zhang, Qinle, Li, Yan, Sun, Lu, Zhang, Shu, Guo, Kun, Liu, Yinkun
Publicado 2013

Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability

por Yi, Sheng, Chen, Fei, Qin, Zailong, Yi, Shang, Huang, Limei, Huang, Leini, Feng, Ying, Wei, Hao, Yang, Qi, Zhang, Qinle, Luo, Jingsi
Publicado 2022

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations

por Yang, Qi, Yi, Sheng, Li, Mengting, Xie, Bobo, Luo, Jinsi, Wang, Jin, Rong, Xiuliang, Zhang, Qinle, Qin, Zailong, Hang, Limei, Feng, Shihan, Fan, Xin
Publicado 2019

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

por Yang, Qi, Xu, Hong, Luo, Jinsi, Zhang, Qinle, Xie, Bobo, Yi, Sheng, Rong, Xiuliang, Wang, Jin, Qin, Zailong, Jiang, Tingting, Lin, Li, Zuo, Yangjin, Fan, Xin
Publicado 2018

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

por Yi, Sheng, Zhang, Yue, Qin, Zailong, Yi, Shang, Zheng, Haiyang, Luo, Jingsi, Li, Qifei, Wang, Jin, Yang, Qi, Li, Mengting, Chen, Fei, Zhang, Qiang, Zhang, Qinle, Shen, Yiping
Publicado 2021

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

por Yi, Sheng, Zhang, Xiaofei, Yang, Qi, Huang, Jingjing, Zhou, Xunzhao, Qian, Jiale, Pan, Pingshan, Yi, Shang, Zhang, Shujie, Zhang, Qiang, Tang, Xianglian, Huang, Limei, Zhang, Qinle, Qin, Zailong, Luo, Jingsi
Publicado 2023

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer

por Xiao, Feifan, Pu, Jian, Wen, Qiongxian, Huang, Qin, Zhang, Qinle, Huang, Birong, Huang, Shanshan, Lan, Aihua, Zhang, Yuening, Li, Jiatong, Zhao, Dong, Shen, Jing, Wu, Huayu, He, Yan, Li, Hongtao, Yang, Xiaoli
Publicado 2017

Deciphering the effects of PYCR1 on cell function and its associated mechanism in hepatocellular carcinoma

por Xu, Yanzhen, Zuo, Wenpu, Wang, Xiao, Zhang, Qinle, Gan, Xiang, Tan, Ning, Jia, Wenxian, Liu, Jiayi, Li, Zhouquan, Zhou, Bo, Zhao, Dong, Xie, Zhibin, Tan, Yanjun, Zheng, Shengfeng, Liu, Chengwu, Li, Hongtao, Chen, Zhijian, Yang, Xiaoli, Huang, Zhaoquan
Publicado 2021

Methylation of S100A8 is a promising diagnosis and prognostic marker in hepatocellular carcinoma

por Liu, Kun, Zhang, Yuening, Zhang, Chengdong, Zhang, Qinle, Li, Jiatong, Xiao, Feifan, Li, Yingfang, Zhang, Ruoheng, Dou, Dongwei, Liang, Jiezhen, Qin, Jian, Lin, Zhidi, Zhao, Dong, Jiang, Min, Liang, Zhenxin, Su, Jie, Gupta, Vanaparthy Pranay, He, Min, Yang, Xiaoli
Publicado 2016

Evaluating the role of RAD52 and its interactors as novel potential molecular targets for hepatocellular carcinoma

por Li, Ping, Xu, YanZhen, Zhang, Qinle, Li, Yu, Jia, Wenxian, Wang, Xiao, Xie, Zhibin, Liu, Jiayi, Zhao, Dong, Shao, Mengnan, Chen, Suixia, Mo, Nanfang, Jiang, Zhiwen, Li, Liuyan, Liu, Run, Huang, Wanying, Chang, Li, Chen, Siyu, Li, Hongtao, Zuo, Wenpu, Li, Jiaquan, Zhang, Ruoheng, Yang, Xiaoli
Publicado 2019