For: | Wang JS, Zhao J, Li LT. ARC syndrome with high GGT cholestasis caused by VPS33B mutations. World J Gastroenterol 2014; 20(16): 4830-4834 [PMID: 24782640 DOI: 10.3748/wjg.v20.i16.4830] |
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URL: | https://www.wjgnet.com/1007-9327/full/v20/i16/4830.htm |
Number | Citing Articles |
1 |
Vishal Gupta, Aakash Pandita, Astha Panghal, Venkat Kallem. Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. BMJ Case Reports 2018; : bcr-2017-223715 doi: 10.1136/bcr-2017-223715
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2 |
Eleni Agakidou, Charalampos Agakidis, Marios Kambouris, Nicoleta Printza, Maria Farini, Elina Vourda, Spyridon Gerou, Kosmas Sarafidis. A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype. Case Reports in Genetics 2020; 2020: 1 doi: 10.1155/2020/8872294
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3 |
Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge. One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype. BMC Nephrology 2022; 23(1) doi: 10.1186/s12882-022-02851-2
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4 |
Qinghong Li, Yue Sun, Sven C. D. van IJzendoorn. A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators. Biology 2021; 10(2): 119 doi: 10.3390/biology10020119
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5 |
Yi‐Ling Qiu, Teng Liu, Kuerbanjiang Abuduxikuer, Chen‐Zhi Hao, Jing‐Yu Gong, Mei‐Hong Zhang, Li‐Ting Li, Yan‐Yan Yan, Jia‐Qi Li, Jian‐She Wang.
Novel missense mutation in
VPS33B
is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
. Human Mutation 2019; 40(12): 2247 doi: 10.1002/humu.23770
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6 |
Jan van der Beek, Caspar Jonker, Reini van der Welle, Nalan Liv, Judith Klumperman. CORVET, CHEVI and HOPS – multisubunit tethers of the endo-lysosomal system in health and disease. Journal of Cell Science 2019; 132(10) doi: 10.1242/jcs.189134
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7 |
Kai-li Fu, Pan Chen, Yan-ying Zhou, Yi-ming Jiang, Yue Gao, Hui-zhen Zhang, Li-huan Guan, Cong-hui Wang, Jun-ling Liu, Min Huang, Hui-chang Bi. Hepatic Vps33b deficiency aggravates cholic acid-induced cholestatic liver injury in male mice. Acta Pharmacologica Sinica 2022; 43(4): 933 doi: 10.1038/s41401-021-00723-3
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