Clinical characteristics and pathogenic mechanism of five new ABCB4 missense mutations in progressive familial intrahepatic cholestasis type 3

被引：0
|
作者：
Weng, Yuhang [1 ,2 ]
Zheng, Yufeng [1 ]
Yin, Dandan [1 ]
Xiong, Qingfang [1 ]
Chen, Wei [1 ]
Li, Jinlong [1 ]
Yang, Yongfeng [1 ]
机构：
[1] Nanjing Univ Chinese Med, Hosp Nanjing 2, Nanjing, Peoples R China
[2] Nanjing Univ Chinese Med, Hosp Nanjing 2, Dept Hepatol, Nanjing, Peoples R China
来源：
JOURNAL OF HEPATOLOGY | 2023年 / 78卷
关键词：
D O I：
暂无
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
THU-270
引用
收藏
页码：S956 / S956
页数：1
相关论文
共 50 条
  • [11] Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
    Dario Degiorgio
    Carla Colombo
    Manuela Seia
    Luigi Porcaro
    Lucy Costantino
    Laura Zazzeron
    Domenico Bordo
    Domenico A Coviello
    European Journal of Human Genetics, 2007, 15 : 1230 - 1238
  • [12] Mutations of ABCB4 gene in children with progressive familial intrahepatic cholestasis: A multicenter Italian study
    Colombo, C.
    Vajro, P.
    Iorio, R.
    Castellano, E.
    Marazzi, M. G.
    Martelossi, S.
    Costantino, L.
    De Giorgio, D.
    Maggiore, G.
    JOURNAL OF HEPATOLOGY, 2007, 46 : S257 - S257
  • [13] Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China
    Cheng, Jinlin
    Gong, Ling
    Mi, Xiaoxiao
    Wu, Xiangyan
    Zheng, Jun
    Yang, Wenjun
    FRONTIERS IN MEDICINE, 2022, 9
  • [14] Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity
    Gordo-Gilart, Raquel
    Andueza, Sara
    Hierro, Loreto
    Martinez-Fernandez, Pilar
    D'Agostino, Daniel
    Jara, Paloma
    Alvarez, Luis
    GUT, 2015, 64 (01) : 147 - 155
  • [15] A Missense Mutation in ABCB4 Gene Involved in Progressive Familial Intrahepatic Cholestasis Type 3 Leads to a Folding Defect that Can Be Rescued by Low Temperature
    Delaunay, Jean-Louis
    Durand-Schneider, Anne-Marie
    Delautier, Daniele
    Rada, Alegna
    Gautherot, Radajuben
    Jacquemin, Emmanuel
    Ait-Slimane, Tounsia
    Maurice, Michele
    HEPATOLOGY, 2009, 49 (04) : 1218 - 1227
  • [16] Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report
    Wu, Zhenping
    Zhang, Siying
    Zhang, Lunli
    Li, Ming
    DIAGNOSTIC PATHOLOGY, 2020, 15 (01)
  • [17] Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3
    Wang, Senyan
    Liu, Qi
    Sun, Xiaoyan
    Wei, Wenjuan
    Ding, Leilei
    Zhao, Xiaofang
    SCIENTIFIC REPORTS, 2024, 14 (01):
  • [18] Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report
    Zhenping Wu
    Siying Zhang
    Lunli Zhang
    Ming Li
    Diagnostic Pathology, 15
  • [19] A UNIQUE FAMILIAL HETEROZYGOUS ABCB4 MUTATION CAUSING PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC) TYPE 3 IN AN ADULT NOT REPORTED BEFORE
    Irani, Malcolm
    Patel, Pragnesh J.
    Koduru, Pramoda
    McFadden, Robert
    GASTROENTEROLOGY, 2018, 154 (06) : S1210 - S1210
  • [20] A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3 Like Mother, Like Daughter
    Wang, Zhaoyue
    Yang, Fan
    Wang, Jianshe
    Ma, Xiong
    JOURNAL OF CLINICAL GASTROENTEROLOGY, 2016, 50 (04) : 353 - 354
12345