Review
Biochemistry & Molecular Biology
Ana Sanchez-Monteagudo, Edna Ripolles, Marina Berenguer, Carmen Espinos
Summary: Wilson disease is a rare disorder with a variable clinical presentation, requiring early diagnosis for effective treatment. The clinical diagnosis is based on the Leipzig score, but some patients may have conditions resembling WD, leading to uncertainty. Current biomarkers like ceruloplasmin and copper levels are not sufficient, highlighting the need for better markers to improve diagnosis and prognosis.
Review
Medicine, General & Internal
Beata Kasztelan-Szczerbinska, Halina Cichoz-Lach
Summary: Wilson's disease is a rare autosomal recessive disorder characterized by hepatocellular copper deposition. The diagnostic approach involves a complex set of clinical findings and relies on patient history, physical examination, and laboratory testing. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools can reduce treatment delays and improve patient prognosis. Proper management of WD includes early diagnosis, lifelong monitoring, strict adherence to treatment, and screening for adverse effects. Liver transplantation is performed in about 5% of WD patients with acute liver failure or signs of decompensation. Increasing awareness among health professionals and emphasizing early recognition of signs and symptoms are important strategies for patient safety and efficacy of WD therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Medicine, General & Internal
Anna Jopowicz, Beata Tarnacka
Summary: Wilson's disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. It leads to copper overload in liver cells, as well as other organs like the brain, resulting in various symptoms including hepatic, neurological, and psychiatric. Treatment options include chelation therapy, zinc salts, and liver transplantation, with new medications being investigated. Early screening for Wilson's disease is important for prompt diagnosis and better treatment outcomes.
Article
Multidisciplinary Sciences
Krisztian Voros, Bernadett Markus, Klara Atzel, Ferenc Szalay, Laszlo Graf, Daniel Nemeth, Tamas Masszi, Peter Torzsa, Laszlo Kalabay
Summary: This study aimed to investigate whether decreased serum fetuin-A concentration could identify patients with Wilson's disease who developed cirrhosis. The results showed that fetuin-A concentration negatively correlated with disease duration and bilirubin level, and was a significant determinant of having cirrhosis. Among patients with liver involvement, a fetuin-A level of 523 μg/ml was associated with cirrhosis with 82% sensitivity and 87% specificity.
Review
Medicine, General & Internal
Grazyna Gromadzka, Maria Bendykowska, Adam Przybylkowski
Summary: Summary: This article summarizes the methods and results of genetic research on Wilson's disease. Due to the large number of known variants in the ATP7B gene, the usefulness of genetic tests in routine diagnostics is relatively limited. Additional tests, including biochemical evidence, are needed to confirm the diagnosis of Wilson's disease. The article also highlights the complex relationships between genotype and phenotype in Wilson's disease, as other genetic and epigenetic factors also play a role.
Article
Clinical Neurology
Hongliang Xu, Hanyu Lv, Xin Chen, Yajun Lian, Guolan Xing, Yingzi Wang, Ruimin Hu
Summary: Wilson's disease is an autosomal recessive disorder caused by ATP7B pathogenic mutations. This study identified 25 potentially pathogenic ATP7B variants and described a rare renal pathological feature in Wilson's disease. These findings may contribute to early diagnosis and treatment regimens of Wilson's disease. Rating: 8/10.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Zhongyan Xiao, Yuan Yang, Hui Huang, Haiyan Tang, Liqun Liu, Jianguang Tang, Xiaoliu Shi
Summary: The study successfully established a genetic diagnosis for patients from 53 unrelated Chinese WD families using a combination of Sanger sequencing and MLPA, identifying 45 diverse pathogenic mutations with 6 of them being previously unreported. The significance of genetic testing for asymptomatic patients was highlighted, with five asymptomatic patients identified from the study.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Clinical Neurology
Zi-Wei Zheng, Meng-Hui Xu, Chuan-Bin Sun, Zhi-Ying Wu, Yi Dong
Summary: This study reported a case of a patient with Wilson's disease (WD) who presented with acute-onset visual impairment. By reviewing previous cases, it was found that WD has complex clinical manifestations. Although the etiology behind visual impairment remains uncertain, the possibility of WD should be considered through neuropsychiatric and hepatic symptoms, corneal K-F rings, decreased serum ceruloplasmin, and low likelihood or exclusion of other causes. Clinicians need to recognize this rare manifestation and provide appropriate treatment to avoid misdiagnosis and overtreatment.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Haiman Hou, Dingbang Chen, Junxiu Liu, Li Feng, Jiwei Zhang, Xiuling Liang, Yuming Xu, Xunhua Li
Summary: This study aimed to explore the genetic effect on neurological worsening in neurological WD patients following chelator therapy. The results showed that younger age of onset, presence of dystonia, and genotype with severe mutations were associated with an increased risk of neurological deterioration.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Daniela Fanni, Clara Gerosa, Valeria Marina Nurchi, Rosita Cappai, Marta Mureddu, Peter Van Eyken, Luca Saba, Mirko Manchia, Gavino Faa
Summary: Wilson's disease is a congenital disorder of copper metabolism with unknown pathogenesis. Individuals with the same genotype may exhibit different clinical presentations, potentially due to the inability to correlate mutation types in the ATP7B gene with phenotypic manifestations.
CURRENT MEDICINAL CHEMISTRY
(2021)
Article
Pediatrics
Ying Wang, Qingnan He, Xiqiang Dang, Xiaochuan Wu, Xiaoyan Li
Summary: This case presents a patient with X-linked Alport syndrome (AS) and Wilson's disease (WD). The patient was initially diagnosed with WD, but later experienced persistent hematuria and proteinuria. Renal biopsy and genetic testing revealed mutations in COL4A5 and ATP7B genes. Accurate diagnosis is crucial for precise treatment and better prognosis.
FRONTIERS IN PEDIATRICS
(2023)
Article
Genetics & Heredity
Lingyan Qiao, Juan Ge, Cheng Li, Yusheng Liu, Conghui Hu, Sicui Hu, Wenjie Li, Tang Li
Summary: Despite the increasing number of reports on ATP7B variants, carrier screening for Wilson's disease is rare. In Qingdao area, the carrier frequency of ATP7B gene pathogenic variants was found to be high, with c.2333G>T being the most common variant, accounting for 54.79% of all variants screened.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Medicine, General & Internal
Ju Zou, Ying-Hao Wang, Ling Wang, Ruo-Chan Chen
Summary: This is a case of a 19-year-old woman with Wilson's disease, rare ATP7B gene mutation, and unusual symptoms such as photosensitivity, sensation abnormality, and skin eruption; symptoms improved after medication and plasma exchange, but she eventually underwent liver transplantation.
FRONTIERS IN MEDICINE
(2021)
Article
Genetics & Heredity
Yanjun Wang, Jiahui Fang, Bin Li, Chongyang Li, Shan Liu, Juan He, Lvyan Tao, Cuifen Li, Ya Yang, Li Li, Shufang Xiao
Summary: This study identified four novel mutations in pediatric patients with Wilson's disease from Yunnan province, China, and characterized the genotypes and phenotypes in different ethnic groups. This will contribute to the understanding of the population genetics of Wilson's disease in China.
FRONTIERS IN GENETICS
(2023)
Article
Multidisciplinary Sciences
Agata Antepowicz, Omar Habib, Freja Kirsebom, Cecilia Johansson, Deborah R. Gill, Stephen C. Hyde
Summary: In this study, gene delivery approaches using recombinant adeno-associated virus and simian immunodeficiency virus vectors were utilized to achieve sustained in vivo production of Palivizumab in a murine model. Pre-treatment with Palivizumab-expressing vectors provided complete protection against RSV-induced weight loss. This approach offers prophylaxis against RSV infection, potentially reducing treatment costs in vulnerable populations.
SCIENTIFIC REPORTS
(2021)
Article
Gastroenterology & Hepatology
Hai-Ning Chen, Yang Shu, Fei Liao, Xue Liao, Hongying Zhang, Yun Qin, Zhu Wang, Maochao Luo, Qiuluo Liu, Zhinan Xue, Minyuan Cao, Shouyue Zhang, Wei-Han Zhang, Qianqian Hou, Xuyang Xia, Han Luo, Yan Zhang, Lie Yang, Jian-Kun Hu, Xianghui Fu, Bo Liu, Hongbo Hu, Canhua Huang, Yong Peng, Wei Cheng, Lunzhi Dai, Li Yang, Wei Zhang, Biao Dong, Yuan Li, Yuquan Wei, Heng Xu, Zong-Guang Zhou
Summary: The study provides insights into the genomic evolution and metastatic patterns of colorectal cancer, suggesting that biopsy/sequencing of metastases should be considered for patients with multiorgan or late postoperative metastasis.
Article
Oncology
Xin Liao, Xuyang Xia, Wei Su, Huayun Yan, Yingfang Ma, Lian Xu, Han Luo, Wanting Liu, Dandan Yin, Wei-Han Zhang, Hai-Ning Chen, Yiqi Deng, Zhixiang Ren, Zehui Yu, Fei Liao, Keling Chen, Minyuan Cao, Yiguan Zhang, Wei Zhang, Wei Wang, Jun-Ning Zhao, Heng Xu, Yang Shu
Summary: The study investigated the genomic alterations and prognostic value of gastric-type cervical adenocarcinoma (GCA) in Chinese patients. Mutations were commonly observed in GCA-related driver genes, and the alteration of APOBEC3B was found to be associated with favorable prognosis.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Cong Li, Yun Qin, Wei-Han Zhang, Hanyu Jiang, Bin Song, Mustafa R. Bashir, Heng Xu, Ting Duan, Mengjie Fang, Lianzhen Zhong, Lingwei Meng, Di Dong, Zhenhua Hu, Jie Tian, Jian-Kun Hu
Summary: The study developed a noninvasive AI model based on preoperative CT scans to diagnose and predict prognoses of SRCC in gastric cancer patients. The AI model showed good performance in diagnosing SRCC, stratifying patient prognosis, and predicting chemotherapy responses. Patients identified as high-risk by the AI model may benefit significantly from adjuvant chemotherapy.
Article
Pharmacology & Pharmacy
Chenxue Mao, Juan Chen, Ting Zou, Yuankang Zhou, Junyan Liu, Xi Li, Xiangping Li, Min Li, Pinhua Pan, Wei Zhuo, Yang Gao, Shuo Hu, Desheng Xiao, Lin Wu, Zhan Wang, Heng Xu, Wen Yang, Yingjie Xu, Haihua Xiao, Kazuhiko Hanada, Wei Zhang, Honghao Zhou, Jiye Yin, Zhaoqian Liu
Summary: This study investigated the pharmacogenomic markers associated with platinum-based chemotherapy response in NSCLC patients through genome-wide association studies and validated the findings in independent cohorts. The results identified two genetic variations (rs2280496 and rs189178649) in the ADCY1 gene that were associated with the sensitivity of platinum-based chemotherapy in NSCLC patients.
ACTA PHARMACEUTICA SINICA B
(2022)
Article
Gastroenterology & Hepatology
Maochao Luo, Zhao Huang, Xingyue Yang, Yan Chen, Jingwen Jiang, Lu Zhang, Li Zhou, Siyuan Qin, Ping Jin, Shuyue Fu, Liyuan Peng, Bowen Li, Yongting Fang, Wenchen Pu, Yanqiu Gong, Yu Liu, Zhixiang Ren, Qiu-Luo Liu, Cun Wang, Fangqiong Xiao, Du He, Hongying Zhang, Changlong Li, Heng Xu, Lunzhi Dai, Yong Peng, Zong-Gung Zhou, Canhua Huang, Hai-Ning Chen
Summary: This study identifies PHLDB2 as a key player in latent liver metastasis of colorectal cancer (CRC). Chemotherapeutic-induced oxidative stress promotes N6-methyladenosine modification of PHLDB2 messenger RNA, leading to increased protein expression of PHLDB2. Upregulated PHLDB2 stabilizes EGFR and promotes its nuclear translocation, resulting in activation of EGFR signaling and resistance to cetuximab. The study proposes PHLDB2 as a potential target for CRC treatment.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Immunology
Xi Qin, Shanhu Li, Xiang Li, Dening Pei, Yu Liu, Youxue Ding, Lan Liu, Hua Bi, Xinchang Shi, Ying Guo, Enyue Fang, Fang Huang, Lei Yu, Liuqiang Zhu, Yifang An, C. Alexander Valencia, Yuhua Li, Biao Dong, Yong Zhou
Summary: In this study, a type 9 adeno-associated virus vectored vaccine candidate expressing a dimeric receptor binding domain of the SARS-CoV-2 spike protein was developed and tested in a murine model. The results showed that this vaccine candidate may be used for the development of a SARS-CoV-2 vaccine.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Medicine, Research & Experimental
Nan Liu, Lifang Zhou, Guifeng Lin, Yun Hu, Yaoge Jiao, Yanhong Wang, Jingming Liu, Shengyong Yang, Shaohua Yao
Summary: Recent advances in CRISPR-Cas9 techniques have improved our ability to make precise changes in the genome. Modulating certain endogenous pathway cells can enhance the action of these editing tools in mammalian cells. Histone deacetylase inhibitors (HDACi) have been found to increase the efficiency and purity of base and prime editing.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Genetics & Heredity
Feier Zeng, Huan Liu, Xuyang Xia, Yang Shu, Wei Cheng, Heng Xu, Geng Yin, Qibing Xie
Summary: This study identified novel variants in IHH for inherited BDA1 and found a potential causal germline variant in Cry1 for a molecular biomarker of RA.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Rui Tao, Yanhong Wang, Yaoge Jiao, Yun Hu, Li Li, Lurong Jiang, Lifang Zhou, Junyan Qu, Qiang Chen, Shaohua Yao
Summary: Prime editors with Cas9-nickase and reverse transcriptase enable targeted precise editing of small DNA pieces, expanding the editing scope and improving efficiency and accuracy.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Biotechnology & Applied Microbiology
Qinghong Dai, Xuyang Xia, Chenjia He, Yupeng Huang, Yidan Chen, Yang Wu, Yuehong Chen, Qianqian Hou, Yang Shu, Wei Zhang, Heng Xu, Geng Yin, Qibing Xie
Summary: The study found that gut microbiota dysbiosis in ankylosing spondylitis patients can be restored after anti-TNF-alpha treatment. SCFA-producing bacteria play a crucial role in the onset and severity of ankylosing spondylitis. Bacilli and Haemophilus may be associated with the onset and severity of ankylosing spondylitis.
PHARMACOGENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Peiqi Wang, Xinghan Sun, Qiang Miao, Hao Mi, Minyuan Cao, Shan Zhao, Yiyi Wang, Yang Shu, Wei Li, Heng Xu, Ding Bai, Yan Zhang
Summary: This study investigated the genetic predispositions of aesthetic facial traits in the Chinese population. Several novel genetic associations were identified, and functional annotation and polygenic scores were used to understand the genetic basis of these traits.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Han Luo, Xuyang Xia, Li-Bin Huang, Hyunsu An, Minyuan Cao, Gyeong Dae Kim, Hai-Ning Chen, Wei-Han Zhang, Yang Shu, Xiangyu Kong, Zhixiang Ren, Pei-Heng Li, Yang Liu, Huairong Tang, Ronghao Sun, Chao Li, Bing Bai, Weiguo Jia, Yi Liu, Wei Zhang, Li Yang, Yong Peng, Lunzhi Dai, Hongbo Hu, Yong Jiang, Yiguo Hu, Jingqiang Zhu, Hong Jiang, Zhihui Li, Carlos Caulin, Jihwan Park, Heng Xu
Summary: This study conducts pan-cancer analysis on 226 samples across 10 solid cancer types, illustrating the commonalities and plasticity of heterogeneous CAFs. It reveals that the activation trajectory of major CAF types is divided into three states, showing distinct interactions with other cell components and correlation with immunotherapy prognosis. Additionally, minor CAF components may originate from other TME components such as endothelial cells and macrophages.
NATURE COMMUNICATIONS
(2022)
Review
Medicine, General & Internal
Pei-Heng Li, Xiang-Yu Kong, Ya-Zhou He, Yi Liu, Xi Peng, Zhi-Hui Li, Heng Xu, Han Luo, Jihwan Park
Summary: This review explores the application of scRNA-seq in investigating the tumour immune microenvironment (TIME), including method comparison, deciphering TIME components, and identifying potential targets. The authors emphasize the importance and future prospects of scRNA-seq technology in cancer therapy, as well as propose some future research directions.
MILITARY MEDICAL RESEARCH
(2022)
Article
Virology
Zhaobin Deng, Xuyang Xia, Yiqi Deng, Mingde Zhao, Congwei Gu, Yi Geng, Jun Wang, Qian Yang, Manli He, Qihai Xiao, Wudian Xiao, Lvqin He, Sicheng Liang, Heng Xu, Muhan Lu, Zehui Yu
Summary: ANI analysis is a feasible method for classifying poxviruses and identifies new species, as well as poxviruses not listed in existing species lists.
Article
Biochemistry & Molecular Biology
Qing-zhang Tuo, Yu Liu, Zheng Xiang, Hong-Fa Yan, Ting Zou, Yang Shu, Xu-long Ding, Jin-jun Zou, Shuo Xu, Fei Tang, Yan-qiu Gong, Xiao-lan Li, Yu-jie Guo, Zhao-yue Zheng, Ai-ping Deng, Zhang-zhong Yang, Wen-jing Li, Shu-ting Zhang, Scott Ayton, Ashley I. Bush, Heng Xu, Lunzhi Dai, Biao Dong, Peng Lei
Summary: Ischemic stroke poses a significant threat to human health, especially among the elderly. This study suggests that thrombin, a serine protease, can initiate ferroptotic signaling in ischemic stroke. Inhibiting the thrombin-ACSL4 axis could be a potential therapeutic target for reducing neuronal injury in ischemic stroke.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)