Lijun Xu

Generation of a PARPi-sensitive homozygous BRCA1-methylated OVCAR8 cell line using targeted CRISPR gene editing

Ksenija Nesic, Sally Beard, Lijun Xu, Olga Kondrashova et autres

Up to 17% of high grade serous ovarian carcinomas (HGSOC) harbour BRCA1 promoter methylation (meBRCA1), making them susceptible to treatment with targeted PARP inhibitor (PARPi) therapy. Unfortunately, meBRCA1 loss can be acquired following PARPi or platinum chemotherapy, resulting in BRCA1 re–expression and …

au (code pays fourni par la source)

Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia

Cong Zhang, Zhen Zhao, Yue Sun, Lijun Xu et autres

cn, us (code pays fourni par la source)

Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia

Lijun Xu, Qianqian Pang, Yan Jiang, Ou Wang et autres

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutations …

cn (code pays fourni par la source)

Familial Early-Onset Paget’s Disease of Bone Associated with a Novel hnRNPA2B1 Mutation

Xuan Qi, Qianqian Pang, Jiawei Wang, Zhen Zhao et autres

cn (code pays fourni par la source)

A Novel Compound Heterozygous Mutation in Glucose-6-Phosphatase Gene in a Chinese Patient with Glycogen Storage Disease Ia

Jingyi Li, Lijun Xu, Yan Jiang, Zhengqing Qiu et autres

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Zhen Zhao, Weibo Xia, Xiaoping Xing, Mei Li et autres

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese boy with infantile hypophosphatasia. METHODS: The clinical data of the boy was carefully collected. The laboratory and radiographic examination were taken in the case. Sequencing for all the twelve ALPL exons …

cn (code pays fourni par la source)