Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants-Reference-Cited by-同舟云学术

Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants

Published:2019-02-14 Issue:5 Volume:40 Page:552-565
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Li Xiaojin¹²³,Zhang Wei⁴²³,Zhou Donghu¹²³^ORCID,Lv Tingxia¹²³,Xu Anjian¹²³,Wang Hejing¹²³,Zhao Xinyan⁴²³,Zhang Bei¹²³,Li Yanmeng¹²³,Jia Siyu¹²³,Wang Yu⁴²³,Wang Xiaoming⁴²³,Wu Zhen⁴²³,Duan Weijia⁴²³,Wang Qianyi⁴²³,Nan Yuemin⁵,Shang Jia⁶,Jiang Wei⁷,Chen Yongpeng⁸,Zheng Sujun⁹,Liu Mei⁹,Sun Liying¹⁰,You Hong¹⁴²³,Jia Jidong⁴²³,Ou Xiaojuan⁴²³,Huang Jian¹⁴²³

Affiliation:

1. Experimental Center, Beijing Friendship Hospital, Capital Medical University; Beijing China

2. Clinical Research Center for Rare Liver Diseases, Capital Medical University; Beijing China

3. Liver Research Center, National Clinical Research Center for Digestive Diseases; Beijing China

4. Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis; Liver Research Center, Beijing Friendship Hospital, Capital Medical University; Beijing China

5. Department of Traditional and Western Medical Hepatology; Third Hospital of Hebei Medical University; Shijiazhuang China

6. Department of Infectious Diseases; Henan Provincial People’s Hospital; Zhengzhou Henan China

7. Department of Gastroenterology; Zhongshan Hospital, Fudan University; Shanghai China

8. Department of Infectious Diseases; Nanfang Hospital, Southern Medical University; Guangzhou Guangdong China

9. Artificial Liver Center, Beijing You-An Hospital, Capital Medical University; Beijing China

10. Liver Transplant Center, Beijing Friendship Hospital, Capital Medical University; Beijing China

Funder

National Key Technologies R&D Program

Digestive Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals

National Natural Science Foundation of China

Beijing Talents Fund

Beijing Postdoctoral Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23714/fullpdf

Reference52 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Wilson’s disease;Ala;Lancet,2007

3. Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance;Barada;World Journal of Gastroenterology,2017

4. Molecular pathogenesis of Wilson and Menkes disease: Correlation of mutations with molecular defects and disease phenotypes;Bie;Journal of Medical Genetics,2007

5. Functional analysis and drug response to zinc and d-penicillamine in stable ATP7B mutant hepatic cell lines;Chandhok;World Journal of Gastroenterology,2016

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