Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis

por Li, Xiaoyao, Yang, Qi, Shi, Xiaolei, Chen, Weiwei, Pu, Na, Li, Weiqin, Li, Jieshou
Publicado 2018

Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large

por Pu, Na, Masson, Emmanuelle, Cooper, David N., Génin, Emmanuelle, Férec, Claude, Chen, Jian-Min
Publicado 2021

Antimicrobial and anti-biofilm activity of Polygonum chinense L.aqueous extract against Staphylococcus aureus

por Zeng, Jianye, Chen, Dandan, Lv, Chunli, Qin, Kening, Zhou, Qin, Pu, Na, Song, Shanshan, Wang, Xiaomin
Publicado 2022

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function

por Hu, Yuepeng, Zhang, Guofu, Yang, Qi, Pu, Na, Li, Kaiwei, Li, Baiqiang, Cooper, David N., Tong, Zhihui, Li, Weiqin, Chen, Jian-Min
Publicado 2023

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date

por Zhang, Guofu, Hu, Yuepeng, Yang, Qi, Pu, Na, Li, Gang, Zhang, Jingzhu, Tong, Zhihui, Masson, Emmanuelle, Cooper, David N., Chen, Jian-Min, Li, Weiqin
Publicado 2023

Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking

por Chen, Wei-Wei, Yang, Qi, Li, Xiao-Yao, Shi, Xiao-Lei, Pu, Na, Lu, Guo-Tao, Tong, Zhi-Hui, Chen, Jian-Min, Li, Wei-Qin
Publicado 2019

Risk Factors for Fetal Death and Maternal AP Severity in Acute Pancreatitis in Pregnancy

por Shi, Xiaolei, Hu, Yuepeng, Pu, Na, Zhang, Guofu, Zhang, Jingzhu, Zhou, Jing, Ye, Bo, Li, Gang, Ke, Lu, Liu, Yuxiu, Yang, Qi, Tong, Zhihui, Li, Weiqin
Publicado 2021

Expanding ACMG variant classification guidelines into a general framework

por Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N., Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Publicado 2022

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in preg...

por Shi, Xiao‐Lei, Yang, Qi, Pu, Na, Li, Xiao‐Yao, Chen, Wei‐Wei, Zhou, Jing, Li, Gang, Tong, Zhi‐Hui, Férec, Claude, Cooper, David N., Chen, Jian‐Min, Li, Wei‐Qin
Publicado 2020

Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis

por Li, Xiao-Yao, Pu, Na, Chen, Wei-Wei, Shi, Xiao-Lei, Zhang, Guo-fu, Ke, Lu, Ye, Bo, Tong, Zhi-Hui, Wang, Yu-Hui, Liu, George, Chen, Jian-Min, Yang, Qi, Li, Wei-Qin, Li, Jie-Shou
Publicado 2020

Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis

por Yang, Qi, Pu, Na, Li, Xiao-Yao, Shi, Xiao-Lei, Chen, Wei-Wei, Zhang, Guo-Fu, Hu, Yue-Peng, Zhou, Jing, Chen, Fa-Xi, Li, Bai-Qiang, Tong, Zhi-Hui, Férec, Claude, Cooper, David N., Chen, Jian-Min, Li, Wei-Qin
Publicado 2021