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For: Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, Bao KR, Yu LH, Wang MX. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004; 10(4): 590-593 [PMID: 14966923 DOI: 10.3748/wjg.v10.i4.590]
URL: https://www.wjgnet.com/1007-9327/full/v10/i4/590.htm
Number Citing Articles
1
Wei‑Liang Liu, Fang Li, Lu Liu, Wei Chen, Zhi‑Xu He, Hao Gu, Rong Ai. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencingMolecular Medicine Reports 2019;  doi: 10.3892/mmr.2019.10830
2
Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Jak-Yiu Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-Fan Tong, Abby Lau, Nancy Leung, Aric Hui, Ka-Ming Cheung, Chun-Hung Ko, Yiu-Ki Chan, Oliver Ma, Tai-Nin Chau, Alexander Chiu, Yan-Wo Chan. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneityJournal of Human Genetics 2008; 53(1): 55 doi: 10.1007/s10038-007-0218-2
3
Wen-jie Li, Jun-feng Wang, Xiao-ping Wang. Wilson’s disease: Update on integrated Chinese and Western medicineChinese Journal of Integrative Medicine 2013; 19(3): 233 doi: 10.1007/s11655-012-1089-8
4
Susan M. Kenney, Diane W. Cox. Sequence variation database for the Wilson disease copper transporter,ATP7BHuman Mutation 2007; 28(12): 1171 doi: 10.1002/humu.20586
5
Lorenzo Leggio, Noemi Malandrino, Georgios Loudianos, Ludovico Abenavoli, Maria Barbara Lepori, Esmeralda Capristo, Stefano De Virgiliis, Giovanni Gasbarrini, Giovanni Addolorato. Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic OnsetDigestive Diseases and Sciences 2007; 52(10): 2570 doi: 10.1007/s10620-006-9666-3
6
Suporn Treepongkaruna, Paneeya Pienvichit, Pornpimon Phuapradit, Porawee Kodcharin, Duangrurdee Wattanasirichaigoon. Mutations of ATP7B gene in two Thai siblings with Wilson diseaseAsian Biomedicine 2010; 4(1): 163 doi: 10.2478/abm-2010-0020
7
Roderick H. J. Houwen. Inborn Metabolic Diseases2006; : 467 doi: 10.1007/978-3-540-28785-8_37
8
Mingming Li, Jing Ma, Wenlong Wang, Xu Yang, Kaizhong Luo. Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson diseaseBMC Gastroenterology 2021; 21(1) doi: 10.1186/s12876-021-01911-5
9
Hartmut H.-J. Schmidt. Role of genotyping in Wilson’s diseaseJournal of Hepatology 2009; 50(3): 449 doi: 10.1016/j.jhep.2008.11.008
10
Yu-Mei Li, Guo-Ming Lu, Xiao-Ping Zou, Zhao-Shen Li, Gui-Yong Peng, Dian-Chun Fang. Dynamic functional and ultrastructural changes of gastric parietal cells induced by water immersion-restraint stress in ratsWorld Journal of Gastroenterology 2006; 12(21): 3368-3372 doi: 10.3748/wjg.v12.i21.3368
11
Elchanan Nussinson, Azmi Shahbari, Fahmi Shibli, Elena Chervinsky, Philippe Trougouboff, Arie Markel. Diagnostic challenges of Wilson’s disease presenting as acute pancreatitis, cholangitis, and jaundiceWorld Journal of Hepatology 2013; 5(11): 649-653 doi: 10.4254/wjh.v5.i11.649
12
Christine Lo, Oliver Bandmann. Wilson DiseaseHandbook of Clinical Neurology 2017; 142: 7 doi: 10.1016/B978-0-444-63625-6.00002-1
13
Laimutis Kucinskas, Jolanta Jeroch, Astra Vitkauskiene, Raimundas Sakalauskas, Vitalija Petrenkiene, Vaidutis Kucinskas, Rima Naginiene, Hartmut Schmidt, Limas Kupcinskas. High frequency of the c.3207C&gt;A (p.H1069Q) mutation in <italic>ATP7B</italic> gene of Lithuanian patients with hepatic presentation of Wilson&rsquo;s diseaseWorld Journal of Gastroenterology 2008; 14(38): 5876-5879 doi: 10.3748/wjg.14.5876
14
Xiang-Zhen Yuan, Ren-Min Yang, Xiao-Ping Wang. Management Perspective of Wilson’s Disease: Early Diagnosis and Individualized TherapyCurrent Neuropharmacology 2021; 19(4): 465 doi: 10.2174/1570159X18666200429233517
15
Svetlana Lutsenko. Atp7b −/− mice as a model for studies of Wilson's diseaseBiochemical Society Transactions 2008; 36(6): 1233 doi: 10.1042/BST0361233
16
Li-Hua Wang, Ye-Qing Huang, Xuan Shang, Quan-Xi Su, Fu Xiong, Qing-Yun Yu, Hui-Ping Lin, Zhi-Sheng Wei, Ming-Fan Hong, Xiang-Min Xu. Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlationJournal of Human Genetics 2011; 56(9): 660 doi: 10.1038/jhg.2011.76
17
Xin-Hua Li, Yi Lu, Yun Ling, Qing-Chun Fu, Jie Xu, Guo-Qing Zang, Feng Zhou, Yu De-Min, Yue Han, Dong-Hua Zhang, Qi-Ming Gong, Zhi-Meng Lu, Xiao-Fei Kong, Jian-She Wang, Xin-Xin Zhang. Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutationsBMC Medical Genetics 2011; 12(1) doi: 10.1186/1471-2350-12-6
18
Juan Tu, Chaoying Chen, Huarong Li, Mei Chu, Haiyun Geng. A special case of recurrent gross hematuria: AnswersPediatric Nephrology 2017; 32(2): 273 doi: 10.1007/s00467-015-3265-5
19
Gursimran Chandhok, Judit Horvath, Annu Aggarwal, Mohit Bhatt, Andree Zibert, Hartmut HJ Schmidt. Functional analysis and drug response to zinc and D-penicillamine in stable <i>ATP7B</i> mutant hepatic cell linesWorld Journal of Gastroenterology 2016; 22(16): 4109-4119 doi: 10.3748/wjg.v22.i16.4109
20
Sangwook Park, Jung-Young Park, Gu-Hwan Kim, Jin-Ho Choi, Kyung-Mo Kim, Jong-Bae Kim, Han-Wook Yoo. Identification of novelATP7Bgene mutations and their functional roles in Korean patients with Wilson diseaseHuman Mutation 2007; 28(11): 1108 doi: 10.1002/humu.20574
21
Marc Bierings, Peter T. Clayton, Roderick H.J. Houwen. Inborn Metabolic Diseases2012; : 535 doi: 10.1007/978-3-642-15720-2_38
22
Naama Orenstein, Yael Mozer Glassberg, Vered Shkalim-Zemer, Lina Basel-Salmon, Noa Shefer Averbuch, Irina Lagovsky, Anat Guz Mark, Achiya Z. Amir, Lily Bazak, Shiri Cooper, Yael Goldberg. Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in IsraelGene 2023; 887: 147728 doi: 10.1016/j.gene.2023.147728
23
Lucia Giuli, Francesco Santopaolo, Maria Pallozzi, Antonio Pellegrino, Gaetano Coppola, Antonio Gasbarrini, Francesca Romana Ponziani. Cellular therapies in liver and pancreatic diseasesDigestive and Liver Disease 2023; 55(5): 563 doi: 10.1016/j.dld.2022.11.013
24
Mikhail Maksimovich Garbuz, Anna Alexandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko. Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European PopulationGenes 2022; 13(11): 1940 doi: 10.3390/genes13111940
25
Zhisheng Wei, Yeqing Huang, Aiqun Liu, Shengpeng Diao, Qingyun Yu, Zhongxing Peng, Mingfan Hong. Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern ChinaNeuroReport 2014; 25(14): 1075 doi: 10.1097/WNR.0000000000000216
26
Jianli Zhou, Qiao Zhang, Yuzhen Zhao, Moxian Chen, Shaoming Zhou, Yongwei Cheng. Early Diagnosis of Wilson’s Disease in Children in Southern China by Using Common ParametersFrontiers in Genetics 2022; 13 doi: 10.3389/fgene.2022.788658
27
Kassem Barada, Mazen El-Atrache, Ihab I. El-Hajj, Khaled Rida, Jida El-Hajjar, Ziyad Mahfoud, Julnar Usta. Homozygous Mutations in the Conserved ATP Hinge Region of the Wilson Disease GeneJournal of Clinical Gastroenterology 2010; 44(6): 432 doi: 10.1097/MCG.0b013e3181ce5138
28
Eun Joo Chung, Eung Gyu Kim, Sang Jin Kim, Ki-Hwan Ji, Jung Hwa Seo. Wilson’s disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatmentNeurocase 2016; 22(1): 40 doi: 10.1080/13554794.2015.1032977
29
Chloe M. Mak, Ching-Wan Lam, Sik-To Lai, Yui Hui, Sidney Tam. Rapid diagnosis of Wilson disease by a 28-mutation panel: Real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failureClinica Chimica Acta 2008; 398(1-2): 39 doi: 10.1016/j.cca.2008.08.002
30
Jian-She Wang, Kuerbanjiang Abuduxikuer. Clinical and Translational Perspectives on WILSON DISEASE2019; : 345 doi: 10.1016/B978-0-12-810532-0.00033-1
31
Madhuri Behari, Vibhor Pardasani. Genetics of Wilsons diseaseParkinsonism & Related Disorders 2010; 16(10): 639 doi: 10.1016/j.parkreldis.2010.07.007
32
Fei Wu, Jing Wang, Chunwen Pu, Liang Qiao, Chunmeng Jiang. Wilson’s Disease: A Comprehensive Review of the Molecular MechanismsInternational Journal of Molecular Sciences 2015; 16(12): 6419 doi: 10.3390/ijms16036419
33
N. Cheng, H. Wang, W. Wu, R. Yang, L. Liu, Y. Han, L. Guo, J. Hu, L. Xu, J. Zhao, Y. Han, Q. Liu, K. Li, X. Wang, W. Chen. Spectrum of ATP7B mutations and genotype–phenotype correlation in large‐scale Chinese patients with Wilson DiseaseClinical Genetics 2017; 92(1): 69 doi: 10.1111/cge.12951
34
Juan-Juan Xie, Zhi-Ying Wu. Wilson’s Disease in ChinaNeuroscience Bulletin 2017; 33(3): 323 doi: 10.1007/s12264-017-0107-4
35
Chen Chen, Bo Shen, Jia-Jia Xiao, Rong Wu, Sarah Jane Duff Canning, Xiao-Ping Wang. Currently Clinical Views on Genetics of Wilson's DiseaseChinese Medical Journal 2015; 128(13): 1826 doi: 10.4103/0366-6999.159361
36
Michelle Angela Camarata, Si Houn Hahn. Wilson Disease2019; : 105 doi: 10.1016/B978-0-12-811077-5.00009-8
37
Ralf Weiskirchen, Louis C. Penning. COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancerJournal of Trace Elements in Medicine and Biology 2021; 65: 126712 doi: 10.1016/j.jtemb.2021.126712
38
Kok-Siong Poon, Zhe Hao Teo, Jun Hean Yap, Evelyn SC Koay, Karen Tan. Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratoryJournal of Clinical Pathology 2020; 73(4): 231 doi: 10.1136/jclinpath-2019-206054
39
Aniko Folhoffer, Peter Ferenci, Timea Csak, Andrea Horvath, Dalma Hegedus, Gabor Firneisz, Janos Osztovits, Janos Pal Kosa, Claudia Willheim-Polli, Laszlo Szonyi, Margit Abonyi, Peter Laszlo Lakatos, Ferenc Szalay. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson??s diseaseEuropean Journal of Gastroenterology & Hepatology 2007; 19(2): 105 doi: 10.1097/01.meg.0000223904.70492.0b
40
Chloe M. Mak, Ching-Wan Lam. Diagnosis of Wilson's Disease: A Comprehensive ReviewCritical Reviews in Clinical Laboratory Sciences 2008; 45(3): 263 doi: 10.1080/10408360801991055
41
Ozlenen Simsek Papur, Sezin Asik Akman, Raif Cakmur, Orhan Terzioglu. Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutationsEuropean Journal of Medical Genetics 2013; 56(4): 175 doi: 10.1016/j.ejmg.2013.01.003
42
Chin-Wen Lin, Tze-Kiong Er, Fu-Jen Tsai, Ta-Chi Liu, Pang-Yin Shin, Jan-Gowth Chang. Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutationsClinica Chimica Acta 2010; 411(17-18): 1223 doi: 10.1016/j.cca.2010.04.030
43
Julnar Usta, Hussein Abu Daya, Houssam Halawi, Ibraheem Al-Shareef, Omar El-Rifai, Ahmad H. Malli, Ala I. Sharara, Robert H. Habib, Kassem Barada. JIMD Reports - Case and Research Reports, 2012/1JIMD Reports 2011; 4: 129 doi: 10.1007/8904_2011_91
44
Peter Ferenci. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testingHuman Genetics 2006; 120(2): 151 doi: 10.1007/s00439-006-0202-5
45
A. Gupta, D. Aikath, R. Neogi, S. Datta, K. Basu, B. Maity, R. Trivedi, J. Ray, S. K. Das, P. K. Gangopadhyay, K. Ray. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patientsHuman Genetics 2005; 118(1): 49 doi: 10.1007/s00439-005-0007-y
46
Sandeep Kumar, Baburam Thapa, Gurjit Kaur, Rajendra Prasad. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activityMolecular and Cellular Biochemistry 2007; 294(1-2): 1 doi: 10.1007/s11010-005-9028-z
47
Ziru Xue, Hongyu Chen, Lan Yu, Peifang Jiang. A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in ChinaPediatric Neurology 2023; 145: 135 doi: 10.1016/j.pediatrneurol.2023.04.026
48
Peter M. van Hasselt, Peter T. Clayton, Roderick H. J. Houwen. Inborn Metabolic Diseases2016; : 531 doi: 10.1007/978-3-662-49771-5_37
49
Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7BJournal of Genetics 2017; 96(6): 933 doi: 10.1007/s12041-017-0857-9
50
Zhe-Feng Yuan, Wei Wu, Yong-Lin Yu, Jue Shen, Shan-Shan Mao, Feng Gao, Zhe-Zhi Xia. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson’s diseaseWorld Journal of Pediatrics 2015; 11(3): 255 doi: 10.1007/s12519-015-0031-5
51
Jung Ok Shim, Hye Ran Yang, Jin Soo Moon, Ju Young Chang, Jae Sung Ko, Sung Sup Park, Jeong Kee Seo. Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for IdentifyingATP7BMutations and Phenotype Correlations in Children with Wilson DiseaseJournal of Korean Medical Science 2018; 33(26) doi: 10.3346/jkms.2018.33.e177
52
Harmut H-J Schmidt. Introducing Single-Nucleotide Polymorphism Markers in the Diagnosis of Wilson DiseaseClinical Chemistry 2007; 53(9): 1568 doi: 10.1373/clinchem.2007.093633
53
Juan Geng, Jian Wang, Ru-En Yao, Xiao-Qing Liu, Qi-Hua Fu. Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson diseaseWorld Journal of Pediatrics 2013; 9(2): 158 doi: 10.1007/s12519-012-0388-7