118 results on '"Fu, Xi'an"'
Search Results
2. Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population
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Zhang, Qilin, Shi, Peidian, Wang, Zhenzhen, Sun, Lele, Li, Wenchao, Zhao, Qing, Liu, Tingting, Pan, Qing, Sun, Yuanhang, Jia, Fengming, Chen, Wenjie, Fu, Xi’an, Yu, Gongqi, Bao, Fangfang, Mi, Zihao, Wang, Chuan, Sun, Yonghu, Li, Bingqing, Liu, Jianjun, Liu, Hong, Gu, Heng, and Zhang, Furen
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- 2023
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3. Nogo-A/Pir-B/TrkB Signaling Pathway Activation Inhibits Neuronal Survival and Axonal Regeneration After Experimental Intracerebral Hemorrhage in Rats
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Liu, Yinlong, Ma, Chao, Li, Haiying, Shen, Haitao, Li, Xiang, Fu, Xi’an, Wu, Jiang, and Chen, Gang
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- 2019
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4. Genome-Wide Analysis of Protein-Coding Variants in Leprosy
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Liu, Hong, Wang, Zhenzhen, Li, Yi, Yu, Gongqi, Fu, Xi’an, Wang, Chuan, Liu, Wenting, Yu, Yongxiang, Bao, Fangfang, Irwanto, Astrid, Liu, Jian, Chu, Tongsheng, Andiappan, Anand Kumar, Maurer-Stroh, Sebastian, Limviphuvadh, Vachiranee, Wang, Honglei, Mi, Zihao, Sun, Yonghu, Sun, Lele, Wang, Ling, Wang, Chaolong, You, Jiabao, Li, Jinghui, Foo, Jia Nee, Liany, Herty, Meah, Wee Yang, Niu, Guiye, Yue, Zhenhua, Zhao, Qing, Wang, Na, Yu, Meiwen, Yu, Wenjun, Cheng, Xiujun, Khor, Chiea Chuen, Sim, Kar Seng, Aung, Tin, Wang, Ningli, Wang, Deyun, Shi, Li, Ning, Yong, Zheng, Zhongyi, Yang, Rongde, Li, Jinlan, Yang, Jun, Yan, Liangbin, Shen, Jianping, Zhang, Guocheng, Chen, Shumin, Liu, Jianjun, and Zhang, Furen
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- 2017
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5. Genome‐wide meta‐analysis and fine‐mapping prioritize potential causal variants and genes related to leprosy.
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Wang, Zhenzhen, Liu, Tingting, Li, Wenchao, Yu, Gongqi, Mi, Zihao, Wang, Chuan, Liao, Xiaojie, Huai, Pengcheng, Chu, Tongsheng, Liu, Dianchang, Sun, Lele, Fu, Xi'an, Sun, Yonghu, Wang, Honglei, Wang, Na, Liu, Jianjun, Liu, Hong, and Zhang, Furen
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GENETIC variation ,HANSEN'S disease ,EPIGENOMICS ,GENOME-wide association studies ,GENE ontology - Abstract
To date, genome‐wide association studies (GWASs) have discovered 35 susceptible loci of leprosy; however, the cumulative effects of these loci can only partially explain the overall risk of leprosy, and the causal variants and genes within these loci remain unknown. Here, we conducted out new GWASs in two independent cohorts of 5007 cases and 4579 controls and then a meta‐analysis in these newly generated and multiple previously published (2277 cases and 3159 controls) datasets were performed. Three novel and 15 previously reported risk loci were identified from these datasets, increasing the known leprosy risk loci of explained genetic heritability from 23.0 to 38.5%. A comprehensive fine‐mapping analysis was conducted, and 19 causal variants and 14 causal genes were identified. Specifically, manual checking of epigenomic information from the Epimap database revealed that the causal variants were mainly located within the immune‐relevant or immune‐specific regulatory elements. Furthermore, by using gene‐set, tissue, and cell‐type enrichment analyses, we highlighted the key roles of immune‐related tissues and cells and implicated the PD‐1 signaling pathways in the pathogenetic mechanism of leprosy. Collectively, our study identified candidate causal variants and elucidated the potential regulatory and coding mechanisms for genes associated with leprosy. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Prevalence, risk factors, and medical costs of Chlamydia trachomatis infections in Shandong Province, China: a population-based, cross-sectional study
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Huai, Pengcheng, Li, Furong, Li, Zhen, Sun, Lele, Fu, Xi’an, Pan, Qing, Yu, Gongqi, Chai, Zemin, Chu, Tongsheng, Mi, Zihao, Bao, Fangfang, Wang, Honglei, Zhou, Bingni, Wang, Chuan, Sun, Yonghu, Niu, Guiye, Zhang, Yuan, Fu, Fanghui, Lang, Xiaoqiao, Wang, Xiaoling, Zhao, Hui, Liu, Daina, Liu, Hong, Liu, Dianchang, Liu, Jian, Xu, Aiqiang, and Zhang, Furen
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- 2018
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7. Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)
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Shi, Wenhao, Fu, Xi’an, Wang, Zhenzhen, Mi, Zihao, Zhang, Hao, Yu, Gongqi, Liu, Tingting, Wang, Honglei, Pang, Zheng, Lang, Xiaoqiao, Xia, Qianqian, Bao, Fangfang, Yue, Zhenhua, Liu, Hong, and Zhang, Furen
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- 2021
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8. Brooke–Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma
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Chen, Mingfei, Liu, Hong, Fu, Xi’an, Yu, Yongxiang, Yu, Gongqi, Tian, Hongqing, Zhou, Guizhi, Lu, Xianmei, and Chen, Shengli
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- 2013
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9. The HLA-DQB1*03:01 Is Associated with Bullous Pemphigoid in the Han Chinese Population
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Sun, Yonghu, Liu, Hong, Wang, Zhenzhen, Fu, Xi’an, Wang, Chuan, Mi, Zihao, Sun, Lele, Bao, Fangfang, Yu, Gongqi, Zhou, Guizhi, and Zhang, Furen
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- 2018
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10. Failure to detect Mycobacterium lepromatosis as a cause of leprosy in 85 Chinesepatients
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Zhang, Yan, Sun, Yong, Wang, Chuan, Liu, Dan, Chen, Mingfei, Fu, Xi'An, Zhou, Guizhi, Liu, Hong, and Zhang, Furen
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Mycobacterium leprae -- Identification and classification -- Health aspects ,Leprosy -- Causes of -- Diagnosis ,Health - Abstract
Byline: Yan. Zhang, Yong. Sun, Chuan. Wang, Dan. Liu, Mingfei. Chen, Xi'an. Fu, Guizhi. Zhou, Hong. Liu, Furen. Zhang Sir, Leprosy was long believed to be caused by a single [...]
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- 2015
11. Cutaneous sarcoidosis with granuloma formation around nerves mimicking mycobacterial infection
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Zhang, Qilin, Fu, Xi’an, Wang, Chuan, Leela, Parimi Rani, Zhou, Guizhi, and Liu, Hong
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- 2015
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12. Photodynamic therapy and CO2 fractional laser combination therapy for verruca vulgaris caused by Koebner phenomenon — Two case reports.
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Lv, Shuang, Fu, Xi'an, Yue, Zhenhua, Zhang, Huimin, Zhou, Guizhi, Liu, Hong, and Zhang, Furen
- Abstract
• The treatment of recurrent enlarged verruca vulgaris poses challenges for clinicians. • The Koebner phenomenon may cause recurrence and worse warts in verruca vulgaris after cryotherapy, which clinicians should be aware of. • We report two cases of Koebner phenomenon in verruca vulgaris after cryotherapy, resulting in enlarged warts that were successfully treated with CO 2 fractional laser and photodynamic therapy. • The combination of CO 2 fractional laser and photodynamic therapy effectively treats recurrent verruca vulgaris caused by the Koebner phenomenon. Verruca vulgaris, caused by the human papillomavirus (HPV), can profoundly impact an individual's quality of life and necessitate therapeutic intervention. The challenges associated with treating verruca vulgaris are particularly noteworthy when they manifest as the Koebner phenomenon (KP). In this report, we present two cases of verruca vulgaris that developed KP following cryotherapy. Some studies have suggested that pretreatment with laser therapy enhances the efficacy of Photodynamic Therapy (PDT). Given the inefficacy of cryotherapy and the emergence of KP in our patients, we opted for a treatment approach that combined PDT with CO 2 fractional laser (CO 2 FL), resulting in complete resolution without any notable adverse effects or recurrence during the follow-up period. Our cases underscore the importance of considering KP when verruca vulgaris exhibit enlargement and proliferation post-cryotherapy. Furthermore, this combined treatment modality demonstrates its effectiveness and safety. Additionally, our experience highlights the need for a large-scale study to determine the optimal photosensitizer concentration for the treatment of thick, enlarged verruca vulgaris. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Detection of the STS gene in a family with X-linked recessive ichthyosis
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Wang, Na, An, Kun, Liu, Hong, Fu, Xi'An, Yu, Gongqi, Yu, Yongxiang, Tian, Hongqing, and Zhang, Furen
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Gene mutations -- Health aspects ,Ichthyosis -- Risk factors -- Genetic aspects -- Diagnosis -- Care and treatment -- Research ,Health - Abstract
Byline: Na. Wang, Kun. An, Hong. Liu, Xi'an. Fu, Gongqi. Yu, Yongxiang. Yu, Hongqing. Tian, Furen. Zhang Sir, X-linked recessive ichthyosis (XLRI, OMIM: 308100) is a genetic disorder of keratinization [...]
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- 2013
14. Six novel mutations of ATP2C1 identified in eight Chinese patients with Hailey-Hailey disease
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Tian, Hongqing, Chen, Mingfei, You, Jiabao, Fu, Xi'An, Liu, Hong, Shi, Zhongxiang, Yu, Meiling, Wu, Mei, Yu, Yongxiang, Yu, Gongqi, and Zhang, Furen
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Gene mutations -- Health aspects ,Onychomycosis -- Risk factors -- Genetic aspects -- Research ,Health - Abstract
Byline: Hongqing. Tian, Mingfei. Chen, Jiabao. You, Xi'an. Fu, Hong. Liu, Zhongxiang. Shi, Meiling. Yu, Mei. Wu, Yongxiang. Yu, Gongqi. Yu, Furen. Zhang Sir, Hailey-Hailey disease (HHD; MIM 169600), also [...]
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- 2013
15. Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex
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You, Jiabao, Liu, Hong, Fu, Xi'An, Chen, Mingfei, Niu, Guiye, Tian, Hongqing, and Zhang, Furen
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Gene mutations -- Health aspects -- Research ,Calmodulin -- Physiological aspects -- Research ,Tuberous sclerosis -- Genetic aspects -- Research ,Health - Abstract
Byline: Jiabao. You, Hong. Liu, Xi'an. Fu, Mingfei. Chen, Guiye. Niu, Hongqing. Tian, Furen. Zhang Sir, Tuberous sclerosis complex (TSC, OMIM 191100) is a rare autosomal dominant disorder characterized by [...]
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- 2013
16. Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria
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Yuan, Chunying, Liu, Hong, Fu, Xi'An, Yu, Yongxiang, Yu, Gongqi, Bao, Fangfang, Lu, Nan, Li, Jinghui, Liu, Jian, Tian, Hongqing, and Zhang, Furen
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Gene mutations -- Identification and classification ,Pigmentation disorders -- Diagnosis -- Care and treatment -- Genetic aspects ,Health - Abstract
Byline: Chunying. Yuan, Hong. Liu, Xi'an. Fu, Yongxiang. Yu, Gongqi. Yu, Fangfang. Bao, Nan. Lu, Jinghui. Li, Jian. Liu, Hongqing. Tian, Furen. Zhang Sir, Dyschromatosis symmetrica hereditaria (DSH [MIM127400]) is [...]
- Published
- 2012
17. Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
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Yu, Yueqian, Mi, Zihao, Fu, Xi'an, Wang, Zhenzhen, Sun, Lele, Liu, Hong, and Zhang, Furen
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EPIDERMOLYSIS bullosa ,GENETIC mutation ,TWINS ,MEDICAL genetics ,KERATIN - Abstract
Epidermolysis bullosa simplex, characterized by mechanical fragility and blistering within the basal layer of the epidermis, is a rare inherited skin disorder with a prevalence of about 1 in 25 000-50 000.[1] Mutations in several genes, including I KRT5 i , I KRT14 i , I PLEC i , I DSP i , I JUP i , I EXPH5, TGM5 i and I DST i , have been reported.[2] Among them, the mutations in I KRT5 i and I KRT14 i account for 75% of cases.[3] To date, a total of 143 and 112 I KRT5 i and I KRT14 i mutations have been reported, respectively (http://www.interfil.org). The basis for the disease likely involves protein-protein interactions between the two genes and their associated expression.[8] To date, five patients with digenic inheritance of epidermolysis bullosa simplex with I KRT5 i and I KRT14 i mutations have been reported. Among them, the probands' phenotypes in two families were more severe when compared to their affected parents carrying one single mutation in I KRT5 i or I KRT14 i .[[4]] The phenotypes and genetic mutations of reported cases are summarized in Table. [Extracted from the article]
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- 2020
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18. Prediction of leprosy in the Chinese population based on a weighted genetic risk score.
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Fu, Xi'an, Wang, Na, Yue, Zhenhua, Wang, Honglei, Niu, Guiye, Li, Jinghui, Li, Zhen, You, Jiabao, Liu, Hong, Zhang, Furen, Chen, Mingfei, Li, Furong, Wang, Zhenzhen, Wang, Chuan, Yu, Gongqi, Liu, Tingting, Zhang, Huimin, Li, Lulu, Liu, Dan, and Zhang, Mingkai
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HANSEN'S disease , *GENETICS , *PREDICTION models , *ACCURACY , *POPULATION , *DISEASE risk factors ,RISK factors - Abstract
Genome wide association studies (GWASs) have revealed multiple genetic variants associated with leprosy in the Chinese population. The aim of our study was to utilize the genetic variants to construct a risk prediction model through a weighted genetic risk score (GRS) in a Chinese set and to further assess the performance of the model in identifying higher-risk contact individuals in an independent set. The highest prediction accuracy, with an area under the curve (AUC) of 0.743 (95% confidence interval (CI): 0.729–0.757), was achieved with a GRS encompassing 25 GWAS variants in a discovery set that included 2,144 people affected by leprosy and 2,671 controls. Individuals in the high-risk group, based on genetic factors (GRS > 28.06), have a 24.65 higher odds ratio (OR) for developing leprosy relative to those in the low-risk group (GRS≤18.17). The model was then applied to a validation set consisting of 1,385 people affected by leprosy and 7,541 individuals in contact with leprosy, which yielded a discriminatory ability with an AUC of 0.707 (95% CI: 0.691–0.723). When a GRS cut-off value of 22.38 was selected with the optimal sensitivity and specificity, it was found that 39.31% of high risk contact individuals should be screened in order to detect leprosy in 64.9% of those people affected by leprosy. In summary, we developed and validated a risk model for the prediction of leprosy that showed good discrimination capabilities, which may help physicians in the identification of patients coming into contact with leprosy and are at a higher-risk of developing this condition. [ABSTRACT FROM AUTHOR]
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- 2018
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19. Identification of PTPN22, ST6 GAL1 and JAZF1 as psoriasis risk genes demonstrates shared pathogenesis between psoriasis and diabetes.
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Wang, Honglei, Wang, Zhenzhen, Rani, Parimi Leela, Fu, Xi'an, Yu, Wenjun, Bao, Fangfang, Yu, Gongqi, Li, Jianke, Li, Lulu, Sun, Lele, Yue, Zhenhua, Zhao, Qing, Pan, Qing, Cao, Jing, Wang, Chuan, Chi, Xiaojun, Wang, Yaru, Yang, Qing, Mi, Zihao, and Liu, Hong
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DISEASE risk factors ,PSORIASIS ,GENETICS of diabetes ,EPIDEMIOLOGICAL research ,IMMUNOLOGY ,DISEASE susceptibility - Abstract
The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4456 psoriasis cases and 6027 controls of Chinese population using the Mass ARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 ( P=6.15×10
−5 , OR=5.07), rs16861329 on 3q27.3 ( P=2.02×10−4 , OR=0.87) and rs849135 on 7p15.1 ( P=6.59×10−9 , OR=1.78), which suggested PTPN22, ST6 GAL1 and JAZF1 as novel susceptibility genes for psoriasis in Chinese population. Our findings implicated the involvement of T-cell receptor signalling pathway in the pathogenesis of psoriasis and further confirmed the shared genetic susceptibility between psoriasis and diabetes. [ABSTRACT FROM AUTHOR]- Published
- 2017
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20. A novel MVK gene mutation in a Chinese patient with disseminated superficial actinic porokeratosis
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Xu, Yuanyuan, Fu, Xi'an, Yang, Baoqi, Liu, Hong, and Zhang, Furen
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- 2015
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21. Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
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Liu, Hong, Zhang, Furen, Irwanto, Astrid, Liu, Jianjun, Fu, Xi'an, Yu, Gongqi, Yu, Yongxiang, Sun, Yonghu, Wang, Chuan, Wang, Zhenzhen, Chen, Mingfei, Bao, Fangfang, Li, Jinghui, You, Jiabao, Liu, Jian, Chu, Tongsheng, Wang, Na, Niu, Guiye, Liu, Dianchang, and Yu, Xiulu
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HANSEN'S disease patients ,GENOMES ,MYCOBACTERIAL diseases ,AUTOIMMUNITY ,GENES ,CROHN'S disease - Abstract
Genome-wide association studies (GWAS) have led to the discovery of several susceptibility loci for leprosy with robust evidence, providing biological insight into the role of host genetic factors in mycobacterial infection. However, the identified loci only partially explain disease heritability, and additional genetic risk factors remain to be discovered. We performed a 3-stage GWAS of leprosy in the Chinese population using 8,313 cases and 16,017 controls. Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. A systematic evaluation of pleiotropic effects demonstrated a high tendency for leprosy susceptibility loci to show association with autoimmunity and inflammatory diseases. Further analysis suggests that molecular sensing of infection might have a similar pathogenic role across these diseases, whereas immune responses have discordant roles in infectious and inflammatory diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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22. Case Report of Two Cases of Fever, Rash, and Organ Involvement during the Treatment of Leprosy.
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Liu, Hong, Wang, Chuan, Chu, Tongsheng, Rani, Parimi Leela, Yu, Debao, Fu, Xi'an, Chen, Mingfei, Chen, Shumin, and Zhang, Furen
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HANSEN'S disease ,FEVER ,DIFFERENTIAL diagnosis ,THERAPEUTICS - Abstract
This article discusses two cases of fever, rash, and organ involvement during the treatment of leprosy. The first patient, a 65-year-old man, developed a high fever and a generalized rash after 27 days of treatment. The second patient, a 39-year-old woman, developed a fever and a pruritic rash 21 days after treatment. The symptoms in both cases were initially suspected to be a drug-induced hypersensitivity syndrome (DIHS) caused by the medication dapsone (DDS). The diagnosis of DDS-induced hypersensitivity syndrome was confirmed through an HLA-B*13:01 test. Treatment with corticosteroids led to improvement in both patients. The article emphasizes the importance of timely diagnosis and differential diagnosis in the treatment of leprosy and highlights the value of the HLA-B*13:01 test in preventing DDS syndrome. [Extracted from the article]
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- 2014
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23. Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease.
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Chen, Mingfei, Li, Yi, Liu, Hong, Fu, Xi'an, Yu, Yiongxiang, Yu, Gongqi, Wang, Chuan, Bao, Fangfang, Liany, Herty, Wang, Zhenzhen, Shi, Zhongxiang, Zhang, Dizhan, Zhou, Guizhi, Liu, Jianjun, and Zhang, Furen
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GENETIC mutation ,SKIN disease genetics ,CHINESE people ,GENETIC disorders ,HUMAN skin color ,NUCLEOTIDE sequence ,DISEASES - Abstract
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative genes, we performed genome-wide linkage and exome sequencing analyses in a multiplex Chinese DDD family, in which the KRT5 mutation was absent. Only a novel 1-bp deletion (c.246+5delG) in POFUT1 was found. No other novel mutation or this deletion was detected in POFUT1 in a second DDD family and a sporadic DDD case by Sanger Sequencing. The result shows the genetic-heterogeneity and complexity of DDD and will contribute to the further understanding of DDD genotype/phenotype correlations and to the pathogenesis of this disease. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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24. Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria.
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Liu, Hong, Li, Yi, Hung, Ken Kwok Hon, Wang, Na, Wang, Chuan, Chen, Xuechao, Sheng, Donglai, Fu, Xi’an, See, Kelvin, Foo, Jia Nee, Low, Huiqi, Liany, Herty, Irwan, Ishak Darryl, Liu, Jian, Yang, Baoqi, Chen, Mingfei, Yu, Yongxiang, Yu, Gongqi, Niu, Guiye, and You, Jiabao
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NUCLEOTIDE sequence ,GENETIC disorders ,MOLECULAR biology ,AXONS ,IMMUNOHISTOCHEMISTRY ,REVERSE transcriptase polymerase chain reaction ,HUMAN genetics ,COMPUTATIONAL biology - Abstract
Background: As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. Methodology: We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex Chinese DUH family to identify the pathogenic mutations and verified the candidate mutations using Sanger sequencing. Quantitative RT-PCR and Immunohistochemistry was performed to verify the expression of the pathogenic gene, Zebrafish was also used to confirm the functional role of ABCB6 in melanocytes and pigmentation. Results: Genome-wide linkage (assuming autosomal dominant inheritance mode) and exome sequencing analyses identified ABCB6 as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the disease phenotype. Further mutation analysis of ABCB6 in four other DUH families and two sporadic cases by Sanger sequencing confirmed the mutation (c.1358C>T; p.Ala453Val) and discovered a second, co-segregating coding mutation (c.964A>C; p.Ser322Lys) in one of the four families. Both mutations were heterozygous in DUH patients and not present in the 1000 Genome Project and dbSNP database as well as 1,516 unrelated Chinese healthy controls. Expression analysis in human skin and mutagenesis interrogation in zebrafish confirmed the functional role of ABCB6 in melanocytes and pigmentation. Given the involvement of ABCB6 mutations in coloboma, we performed ophthalmological examination of the DUH carriers of ABCB6 mutations and found ocular abnormalities in them. Conclusion: Our study has advanced our understanding of DUH pathogenesis and revealed the shared pathological mechanism between pigmentary DUH and ocular coloboma. [ABSTRACT FROM AUTHOR]
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- 2014
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25. An association study of TOLL and CARD with leprosy susceptibility in Chinese population.
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Liu, Hong, Bao, Fangfang, Irwanto, Astrid, Fu, Xi'an, Lu, Nan, Yu, Gongqi, Yu, Yongxiang, Sun, Yonghu, Low, Huiqi, Li, Yi, Liany, Herty, Yuan, Chunying, Li, Jinghui, Liu, Jian, Chen, Mingfei, Liu, Huaxu, Wang, Na, You, Jiabao, Ma, Shanshan, and Niu, Guiye
- Published
- 2013
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26. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
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Zhang, Furen, Liu, Hong, Chen, Shumin, Low, Huiqi, Sun, Liangdan, Cui, Yong, Chu, Tongsheng, Li, Yi, Fu, Xi'an, Yu, Yongxiang, Yu, Gongqi, Shi, Benqing, Tian, Hongqing, Liu, Dianchang, Yu, Xiulu, Li, Jinghui, Lu, Nan, Bao, Fangfang, Yuan, Chunying, and Liu, Jian
- Subjects
GENOMICS ,HANSEN'S disease patients ,CROHN'S disease ,AUTOPHAGY ,PRINCIPAL components analysis ,DISEASE susceptibility - Abstract
We performed a genome-wide association study with 706 individuals with leprosy and 5,581 control individuals and replicated the top 24 SNPs in three independent replication samples, including a total of 3,301 individuals with leprosy and 5,299 control individuals from China. Two loci not previously associated with the disease were identified with genome-wide significance: rs2275606 (combined P = 3.94 × 10
?14 , OR = 1.30) on 6q24.3 and rs3762318 (combined P = 3.27 × 10?11 , OR = 0.69) on 1p31.3. These associations implicate IL23R and RAB32 as new susceptibility genes for leprosy. Furthermore, we identified evidence of interaction between the NOD2 and RIPK2 loci, which is consistent with the biological association of the proteins encoded by these genes (NOD2-RIPK2 complex) in activating the NF-?B pathway as a part of the host defense response to infection. Our findings have expanded the biological functions of IL23R by uncovering its involvement in infectious disease susceptibility and suggest a potential involvement of autophagocytosis in leprosy pathogenesis. The IL23R association supports previous observations of the marked overlap of susceptibility genes for leprosy and Crohn's disease, implying common pathogenesis mechanisms. [ABSTRACT FROM AUTHOR]- Published
- 2011
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27. CARD9 variants in Chinese patients with sporotrichosis.
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Bao, Fangfang, Fu, Xi'an, Yu, Gongqi, Wang, Zhenzhen, Liu, Hong, and Zhang, Furen
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- 2019
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28. Three novel mutations of the ATP2A2 gene in Chinese patients with Darier disease.
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Zhao, Qing, Fu, Fanghui, Fu, Xi'an, Wang, Zhenzhen, Liu, Hong, and Zhang, Furen
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EPIDERMOLYSIS bullosa ,GENES ,MEDICAL sciences ,DISEASES - Abstract
The article presents a study on the mutations of the ATP2A2 gene in Chinese patients with Darier disease. Topics discussed include information on the Darier disease as a rare autosomal dominant genodermatosis with almost complete penetrance, characterized by abnormal keratinization and acantholysis; discussions on the clinical manifestations include multiple dark-brown keratotic plaques and warty papules covered by thick crusts particularly in seborrheic areas.
- Published
- 2019
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29. Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex.
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Zuo, Fuguang, Fu, Xi’an, Liu, Hong, Yu, Yongxiang, Yu, Gongqi, Tian, Hongqing, Wang, Xinyi, Wu, Mei, Zhou, Guizhi, Lu, Xianmei, Chen, Shumin, and Zhang, Furen
- Subjects
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TUBEROUS sclerosis , *PEDIATRIC neurology research , *GENETIC mutation , *GENETIC polymorphism research , *SINGLE nucleotide polymorphisms , *ALLELES - Abstract
The article focuses on a study which examines novel mutations of tuberous sclerosis complex 1 (TSC1) gene in Chinese patients with TSC. The researchers identified one SNP and one missense polymorphism in the study participants. Study results are considers useful in genetic counseling and in prenatal diagnosis of affected families.
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- 2013
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30. Seroprevalence and associated factors of HSV-2 infection among general population in Shandong Province, China.
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Huai, Pengcheng, Li, Furong, Li, Zhen, Sun, Lele, Fu, Xi'an, Pan, Qing, Yu, Gongqi, Chai, Zemin, Chu, Tongsheng, Mi, Zihao, Bao, Fangfang, Wang, Honglei, Zhou, Bingni, Wang, Chuan, Sun, Yonghu, Niu, Guiye, Zhang, Yuan, Fu, Fanghui, Lang, Xiaoqiao, and Wang, Xiaoling
- Subjects
SEROPREVALENCE ,HERPES simplex virus ,CITY dwellers ,CITIES & towns ,GENITAL diseases - Abstract
Background: Herpes simplex virus type-2 (HSV-2) infection is the main cause of genital ulcer disease and increases the risk of HIV acquisition. Little information is available regards the epidemiological characteristics of HSV-2 among general population in China. The aim of this study was to explore seroprevalence and associated factors of HSV-2 and provide information for design of HSV-2 control strategy in Shandong, China.Methods: In this cross-sectional study, a total of 8074 persons, 18-49 years of age, were selected using multi-stage probability sampling to represent the general population of Shandong in 2016. Demographic data were collected through face-to-face interviews. Other variables were obtained by self-administered questionnaire surveys. Blood was collected for HSV-2 IgG detection with ELISA.Results: A total of 7256 sexually-active participants were included in the analysis. The weighted seroprevalence of HSV-2 infection was 4.2% (95% confidence interval [CI], 3.2-5.3) in females, which was significant higher than that in males (2.7%; 95% CI, 1.1-4.2) (P = 0.04). The seroprevalence of HSV-2 was higher in individuals from eastern region (6.4%; 95% CI, 5.9-6.9) and urban areas (4.3%; 95% CI, 2.6-6.0) of Shandong than those from other regions (P < 0.01). Associated factors for HSV-2 infection among men were being urban residents (adjusted odds ratio [AOR], 2.36; 95% CI, 1.14-4.88), having two or more sex partners in the past year (AOR, 3.22; 95% CI, 1.90-5.43) and having commercial sex (AOR, 1.51; 95% CI, 1.00-2.26). Among females, being divorced or widowed (AOR, 1.79; 95% CI, 1.08-2.97), having a tattoo (AOR, 2.89; 95% CI, 1.07-7.84), and being dissatisfied with the sex activity quality (AOR, 2.12; 95% CI, 1.24-3.63) was associated with HSV-2 infection.Conclusions: This study showed a relatively low burden of HSV-2 in Shandong province, China compared with the seroprevalence reported in many other provinces and countries. HSV-2 control programs in Shandong should focus on eastern, urban and female residents, and pay more attention to individuals with identified associated factors. [ABSTRACT FROM AUTHOR]- Published
- 2019
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31. Glucocorticoid receptor polymorphisms: Lack of association with glucocorticoid resistance among Chinese bullous disease patients.
- Author
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Zhang, Ming kai, Sun, Yong hu, Xu, Yuanyuan, Bao, Fangfang, Chen, Mingfei, Fu, Xi'an, Wang, Chuan, Yang, Baoqi, Liu, Hong, and Zhang, Furen
- Published
- 2015
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32. A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.
- Author
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Wang, Zhenzhen, Sun, Yonghu, Fu, Xi'an, Yu, Gongqi, Wang, Chuan, Bao, Fangfang, Yue, Zhenhua, Li, Jianke, Sun, Lele, Irwanto, Astrid, Yu, Yongxiang, Chen, Mingfei, Mi, Zihao, Wang, Honglei, Huai, Pengcheng, Li, Yi, Du, Tiantian, Yu, Wenjun, Xia, Yang, and Xiao, Hailu
- Published
- 2016
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33. Lack of association between the single nucleotide polymorphism of ST18 and pemphigus in Chinese population.
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Yue, Zhenhua, Fu, Xi'an, Chen, Mingfei, Wang, Zhenzhen, Wang, Chuan, Yang, Baoqi, Zhou, Guizhi, Liu, Hong, and Zhang, Furen
- Published
- 2014
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34. Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population.
- Author
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Li, Jinghui, Liu, Hong, Liu, Jian, Fu, Xi'an, Yu, Yongxiang, Yu, Gongqi, Chen, Shumin, Chu, Tongsheng, Lu, Nan, Bao, Fangfang, Yuan, Chunying, and Zhang, Furen
- Subjects
HANSEN'S disease ,SINGLE nucleotide polymorphisms ,HETEROGENEITY ,CHINESE people ,POPULATION genetics - Abstract
The article focuses on the Genome-Wide Association Study of single nucleotide polymorphisms (SNP) of association of PARK2 and PACRG with leprosy in Chinese population. The study found no remarkable association of Chinese population with the risk SNPs within the PARK2 and PACRG leprosy region. It is noted that there may be a suggestive association of SNPs with ethnic heterogeneity of susceptibility to leprosy.
- Published
- 2012
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35. Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
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Zhang, Jia, Tong, Hanxing, Fu, Xi'an, Zhang, Yong, Liu, Jiangbo, Cheng, Ruhong, Liang, Jianying, Peng, Jie, Sun, Zhonghui, Liu, Hong, Zhang, Furen, Lu, Weiqi, Li, Ming, and Yao, Zhirong
- Subjects
NEUROFIBROMATOSIS 1 ,DOMINANCE (Genetics) ,TUMOR suppressor genes ,TUMOR suppressor proteins ,DNA mutational analysis ,COMPLEMENTATION (Genetics) - Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficult to make an early clinical diagnosis. Moreover, identifying genetic alterations in NF1 patients represents a complex challenge. Currently, there are no effective detective methods, and no comprehensive NF1 mutation data are available for mainland China. We screened 109 Chinese patients from 100 families with NF1-like phenotypes (e.g., CALs, neurofibromas, etc.) using Sanger sequencing, multiplex ligation-dependent probe amplification and cDNA sequencing. NF1 mutations were identified in 97 individuals, among which 34 intragenic mutations have not previously been reported. Our exhaustive mutational analysis detected mutations in 89% (89/100) of the NF1-like probands and 93% (70/75) of subjects fulfilling the National Institutes of Health (NIH) criteria. Our findings indicate that individuals who exclusively present with multiple CALs exhibit a high possibility (76%) of having NF1 and show a significantly lower mutation rate (p = 0.042) compared with subjects who fulfill the NIH criteria, providing clinicians with the information that subjects only with multiple CALs harbor a considerable possibility (24%) of being attributed to other comparable diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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36. Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris.
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Li, Xiuyan, Chen, Mingfei, Fu, Xi’an, Zhang, Qilin, Wang, Zhenzhen, Yu, Gongqi, Yu, Yongxiang, Qin, Peipei, Wu, Weizhi, Pan, Futang, Liu, Hong, and Zhang, Furen
- Subjects
- *
PSORIASIS , *GENETIC mutation , *CHINESE people , *ETIOLOGY of diseases , *INTERLEUKIN receptors , *PATIENTS , *DISEASES - Abstract
Background Generalized pustular psoriasis (GPP) is a rare type of psoriasis with potentially life-threatening implications. Mutations in IL36RN gene have been suggested to be causative or predisposing factors for GPP. Objective To evaluate the genetic heterogeneity of GPP, PV and GPP alone, GPP with PV. Methods We performed a sanger sequencing identify IL36RN mutations in 62 Chinese Han patients with sporadic GPP, including 17 GPP without psoriasis vulgaris (PV) (GPP alone) cases vs. 45 GPP with preceding, later or accompanied by PV (GPP with PV) cases; 16 patients with pediatric-onset GPP (PGPP) vs. 46 adult-onset GPP (AGPP). We included 96 healthy controls and 174 sporadic patients with PV. Resuts We found 2 new variants and 4 known IL36RN variants in 29 GPP patients, 18 individuals carried recessive (homozygous/compound heterozygous) alleles and 11 cases harbored a single heterozygous change. Twelve PV patients and six controls harbored a single heterozygous for three out of the six variants. Significant differences were observed between GPP and PV groups, GPP alone and GPP with PV groups when compared frequencies of IL36RN variants, but we did not found association between PGPP and AGPP groups. Conclusion Our study provided more evidence that GPP and PV are distinct subtypes of psoriasis caused by different pathogenesis, and GPP alone could be regarded as an especial entities of GPP which is different from GPP with PV on the etiology. [ABSTRACT FROM AUTHOR]
- Published
- 2014
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37. Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
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Dai, Jingxin, Chen, Mingfei, Fu, Xi’an, Yu, Yongxiang, Shi, Zhongxiang, Yu, Changping, Wang, Guangjin, Tian, Hongqing, Liu, Hong, and Zhang, Furen
- Published
- 2013
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38. Identification of IL18RAP/IL18R1 and IL12B as Leprosy Risk Genes Demonstrates Shared Pathogenesis between Inflammation and Infectious Diseases
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Liu, Hong, Irwanto, Astrid, Tian, Hongqing, Fu, Xi'an, Yu, Yongxiang, Yu, Gongqi, Low, Huiqi, Chu, Tongsheng, Li, Yi, Shi, Benqing, Chen, Mingfei, Sun, Yonghu, Yuan, Chunying, Lu, Nan, You, Jiabao, Bao, Fangfang, Li, Jinghui, Liu, Jian, Liu, Huaxu, and Liu, Dianchang
- Subjects
- *
HANSEN'S disease , *HUMAN genes , *INTERLEUKINS , *INFLAMMATION , *COMMUNICABLE diseases , *LOCUS (Genetics) , *DISEASE risk factors - Abstract
Of eight leprosy susceptibility loci identified by genome-wide association studies, five have been implicated in Crohn disease, suggesting a common genetic fingerprint between leprosy and inflammatory bowel disease (IBD). Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10−19; odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10−18; OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. Our study reveals the important role of IL12/IL18-mediated transcriptional regulation of IFN-γ production in leprosy, and together with previous findings, it demonstrates the shared genetic susceptibility between infectious and inflammatory diseases. [Copyright &y& Elsevier]
- Published
- 2012
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39. Variant Analysis of CARD14 in a Chinese Han Population with Psoriasis Vulgaris and Generalized Pustular Psoriasis.
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Qin, Peipei, Zhang, Qilin, Chen, Mingfei, Fu, Xi'an, Wang, Chuan, Wang, Zhenzhen, Yu, Gongqi, Yu, Yongxiang, Li, Xiuyan, Sun, Yonghu, Wu, Weizhi, Yang, Baoqi, Liu, Hong, and Zhang, Furen
- Subjects
- *
CASPASE genetics , *HUMAN genetic variation , *PSORIASIS , *SKIN cancer , *PUBLIC health , *PATIENTS - Abstract
The article presents a study which examines the analysis of caspase recruitment domain family member 14 (CARD14) variants in the Chinese Han patients with psoriasis vulgaris (PsV) and generalized pustular psoriasis (GPP). Findings reveal five rare variants including p.Met119Val, p.Arg166His, and p.Ala216Thr. It suggests the significant role of the rare CARD14 variants in the pathogenesis of GPP.
- Published
- 2014
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40. Tuberculosis risk-associated single nucleotide polymorphisms do not show association with leprosy in Chinese population.
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Wang, Chuan, Wang, Na, Yu, Yongxiang, Yu, Gongqi, Wang, Zhenzhen, Fu, Xi’an, Liu, Hong, and Zhang, Furen
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- *
HANSEN'S disease patients , *TUBERCULOSIS patients , *SINGLE nucleotide polymorphisms , *CHRONIC granulomatous disease , *DISEASE susceptibility , *BACTERIAL loci , *CHINESE people , *CONTROL groups , *DISEASES - Abstract
Summary Objective Leprosy and tuberculosis (TB) are chronic granulomatous infectious diseases. As well as pathogen and environmental factors, host genetic factors make a substantial contribution to susceptibility to both diseases. More importantly, leprosy and TB also have pathogenic mechanisms and clinical features in common. In this study, the genetic association between leprosy and TB was investigated in a Chinese Han population. Methods A genetic association study that included 46 TB susceptibility single nucleotide polymorphisms (SNPs) was performed, involving 1150 leprosy cases and 1150 controls from the Chinese Han population. The Sequenom MassARRAY system was used. Results No significant association was found between the 46 SNPs and leprosy. Therefore, according to the present study, there is no shared susceptibility locus between leprosy and TB in the Chinese Han population. Conclusions Although leprosy and TB have a number of similar characteristics, no shared susceptibility loci were found in the Chinese Han population. Thus, this study demonstrated that the genetic basis of the pathogenesis of the two diseases may vary greatly. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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41. Photodynamic therapy and CO 2 fractional laser combination therapy for verruca vulgaris caused by Koebner phenomenon - Two case reports.
- Author
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Lv S, Fu X, Yue Z, Zhang H, Zhou G, Liu H, and Zhang F
- Subjects
- Humans, Carbon Dioxide, Quality of Life, Photosensitizing Agents therapeutic use, Lasers, Photochemotherapy methods, Warts drug therapy
- Abstract
Verruca vulgaris, caused by the human papillomavirus (HPV), can profoundly impact an individual's quality of life and necessitate therapeutic intervention. The challenges associated with treating verruca vulgaris are particularly noteworthy when they manifest as the Koebner phenomenon (KP). In this report, we present two cases of verruca vulgaris that developed KP following cryotherapy. Some studies have suggested that pretreatment with laser therapy enhances the efficacy of Photodynamic Therapy (PDT). Given the inefficacy of cryotherapy and the emergence of KP in our patients, we opted for a treatment approach that combined PDT with CO
2 fractional laser (CO2 FL), resulting in complete resolution without any notable adverse effects or recurrence during the follow-up period. Our cases underscore the importance of considering KP when verruca vulgaris exhibit enlargement and proliferation post-cryotherapy. Furthermore, this combined treatment modality demonstrates its effectiveness and safety. Additionally, our experience highlights the need for a large-scale study to determine the optimal photosensitizer concentration for the treatment of thick, enlarged verruca vulgaris., Competing Interests: Declaration of Competing Interest There are no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)- Published
- 2024
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42. A bibliometric and knowledge-map analysis of the glymphatic system from 2012 to 2022.
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Hou C, Ren W, Wang B, Fu X, Liu Q, Li J, Zhang H, Wang W, Yang X, Wei P, and Zhao G
- Abstract
Objective: To explore the development context, research hotspots and frontiers in the glymphatic system (GS) field from 2012 to 2022 by bibliometric analysis., Methods: The Web of Science Core Collection (WoSCC) database was searched for articles published between 2012 and 2022. Microsoft Excel was used to manage the data. VOSviewer, CiteSpace, GraphPad Prism, the Web of Science, and an online analysis platform for bibliometrics (http://bibliometric.com/) were used to analyze the countries, institutions, journals, and collaboration networks among authors and the types of articles, developmental directions, references, and top keywords of published articles., Results: A total of 412 articles were retrieved, including 39 countries/regions, 223 research institutes and 171 academic journals. The subject classifications related to the GS were Neuroscience, Clinical Neuroscience and Radiology/Nuclear Medicine/Medical Imaging. The United States has maintained its dominant and most influential position in GS research. Among research institutions and journals, the Univ Rochester and Journal of Cerebral Blood Flow and Metabolism had the highest number of academic articles, respectively. Nedergaard M had the most published article, and Iliff JJ had the most co-citations. The top two keywords with the highest frequency were "glymphatic system" and "cerebrospinal fluid.", Conclusion: This research provides valuable information for the study of the GS. The bibliometric analysis of this area will encourage potential collaborations among researchers, defining its frontiers and directions for development., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Hou, Ren, Wang, Fu, Liu, Li, Zhang, Wang, Yang, Wei and Zhao.)
- Published
- 2023
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43. Case Report: Lepromatous Leprosy and Psoriasis: An Uncommon Coincidence.
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Li J, Fu X, Sun L, Xue X, Liu H, and Zhang F
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- Humans, Mycobacterium leprae isolation & purification, Coinfection, Leprosy, Lepromatous complications, Leprosy, Lepromatous diagnosis, Psoriasis complications, Psoriasis diagnosis
- Abstract
Leprosy, a chronic infectious disease, and psoriasis, an inflammatory disorder, are distinct entities. Epidemiology data show that these two diseases are almost mutually exclusive, with only a few reported cases of their coexistence. Here, we present the case of a patient manifesting intermingled psoriatic and leprosy lesions diagnosed as borderline lepromatous leprosy and plaque psoriasis. Of note, Mycobacterium leprae bacilli were detected not only in the two types of lesions but also in normal-appearing skin and blood.
- Published
- 2022
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44. Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
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Yu Y, Wang Z, Mi Z, Sun L, Fu X, Yu G, Pang Z, Liu H, and Zhang F
- Subjects
- China epidemiology, Collagen Type VII genetics, Humans, Mutation, Pedigree, Epidermolysis Bullosa diagnosis, Epidermolysis Bullosa genetics, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica genetics, Epidermolysis Bullosa Simplex diagnosis, Epidermolysis Bullosa Simplex genetics
- Abstract
Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC; one case of junctional epidermolysis bullosa carried mutations in ITGB4; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1. The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.
- Published
- 2021
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45. Mannose-Binding Lectin and Mannose-Binding Lectin-Associated Serine Protease-2 Genotypes and Serum Levels in Patients with Sporotrichosis.
- Author
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Bao F, Fu X, Yu G, Wang Z, Liu H, and Zhang F
- Subjects
- Asian People, Case-Control Studies, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mannose-Binding Protein-Associated Serine Proteases deficiency, Middle Aged, Polymorphism, Single Nucleotide, Genotype, Mannose-Binding Lectin blood, Mannose-Binding Lectin genetics, Mannose-Binding Protein-Associated Serine Proteases genetics, Sporotrichosis genetics
- Abstract
Mannose-binding lectin (MBL) and MBL-associated serine protease-2 (MASP-2) are important proteins in the lectin pathway of the immune system. Mannose-binding lectin and MASP-2 deficiencies have been reported to be responsible for various fungal infections. We investigated the association of MBL and MASP-2 variants with sporotrichosis in a Chinese population and revealed one rare heterozygous mutation in a disseminated cutaneous patient without immunosuppressive conditions ( MASP2 , p.156_159dupCHNH). We also found that sporotrichosis patients had decreased levels of MBL and MASP-2 in their serum samples compared with controls. Our findings linked, for the first time, MASP-2 deficiencies with susceptibility to Sporothrix sp.
- Published
- 2019
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46. Evaluation of Prospective HLA-B*13:01 Screening to Prevent Dapsone Hypersensitivity Syndrome in Patients With Leprosy.
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Liu H, Wang Z, Bao F, Wang C, Sun L, Zhang H, Yu G, Mi Z, Li J, Li L, Zhao Q, Yue Z, Zhao W, Yu W, Cao J, Xiong F, Wang Y, Chai Z, Cheng X, Zhang Y, Fu F, Lang X, Wang X, Irwanto A, Krismawati H, Fu X, Sun Y, You J, Liu J, Pan Q, Chu T, Liu D, Chen S, Shen J, Yan L, Zhang G, Liu J, Zhang F, Xiong L, Yang J, Li J, Ke W, Li M, Ning Y, Xiong J, Li M, Xiong M, Yang B, Duan Q, Wang H, Li W, Kuang Y, Li J, Wang L, Cao Q, Xiao P, Xiao B, Zhang L, Lin Z, Wang Y, Shen Y, Yan L, Wu W, Zheng H, Zhan X, Li W, Shang X, Xu Y, and Liu Q
- Subjects
- Adult, Alleles, China, Clofazimine administration & dosage, Cohort Studies, Dapsone administration & dosage, Drug Hypersensitivity Syndrome epidemiology, Drug Hypersensitivity Syndrome etiology, Drug Therapy, Combination, Female, Humans, Incidence, Leprostatic Agents administration & dosage, Male, Middle Aged, Prospective Studies, Rifampin administration & dosage, Dapsone adverse effects, Drug Hypersensitivity Syndrome prevention & control, HLA-B13 Antigen genetics, Leprostatic Agents adverse effects, Leprosy drug therapy
- Abstract
Importance: Dapsone hypersensitivity syndrome (DHS) is the most serious adverse reaction associated with dapsone administration and one of the major causes of death in patients with leprosy, whose standard treatment includes multidrug therapy (MDT) with dapsone, rifampicin, and clofazimine. Although the HLA-B*13:01 polymorphism has been identified as the genetic determinant of DHS in the Chinese population, no studies to date have been done to evaluate whether prospective HLA-B*13:01 screening could prevent DHS by identifying patients who should not receive dapsone., Objective: To evaluate the clinical use of prospective HLA-B*13:01 screening for reduction of the incidence of DHS by excluding dapsone from the treatment for patients with HLA-B*13:01-positive leprosy., Design, Setting, and Participants: A prospective cohort study was conducted from February 15, 2015, to April 30, 2018, in 21 provinces throughout China. A total of 1539 patients with newly diagnosed leprosy were enrolled who had not received dapsone previously. After excluding patients who had a history of allergy to sulfones or glucose-6-phosphate dehydrogenase deficiency, 1512 individuals underwent HLA-B*13:01 genotyping. All of the patients were followed up weekly for the first 8 weeks after treatment to monitor for adverse events., Exposures: Patients who were HLA-B*13:01 carriers were instructed to eliminate dapsone from their treatment regimens, and noncarrier patients received standard MDT., Main Outcomes and Measures: The primary outcome was the incidence of DHS. The historical incidence rate of DHS (1.0%) was used as a control., Results: Among 1512 patients (1026 [67.9%] men, 486 [32.1%] women; mean [SD] age, 43.1 [16.2] years), 261 (17.3%) were identified as carriers of the HLA-B*13:01 allele. A total of 714 adverse events in 384 patients were observed during the follow-up period. Dapsone hypersensitivity syndrome did not develop in any of the 1251 patients who were HLA-B*13:01-negative who received dapsone, while approximately 13 patients would be expected to experience DHS, based on the historical incidence rate of 1.0% per year (P = 2.05 × 10-5). No significant correlation was found between other adverse events, including dermatologic or other events, and HLA-B*13:01 status., Conclusions and Relevance: Prospective HLA-B*13:01 screening and subsequent elimination of dapsone from MDT for patients with HLA-B*13:01-positive leprosy may significantly reduce the incidence of DHS in the Chinese population.
- Published
- 2019
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47. Identification of a Single Nucleotide Polymorphism in NFKBIA with Different Effects on Psoriatic Arthritis and Cutaneous Psoriasis in China.
- Author
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Zhao Q, Sun Y, Fu X, Wang Z, Yu G, Yue Z, Wang Y, Zhang H, Wang C, Liu H, Yang Q, and Zhang F
- Subjects
- Adult, Arthritis, Psoriatic diagnosis, Arthritis, Psoriatic ethnology, Asian People genetics, Case-Control Studies, China epidemiology, Databases, Genetic, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Phenotype, Psoriasis diagnosis, Psoriasis ethnology, Risk Factors, Arthritis, Psoriatic genetics, NF-KappaB Inhibitor alpha genetics, Polymorphism, Single Nucleotide, Psoriasis genetics
- Abstract
Genome-wide association studies have recently identified a number of non-major histocompatibility complex regions associated with psoriatic arthritis. However, data on Chinese patients with psoriatic arthritis and the differences between psoriatic arthritis and cutaneous psoriasis are limited. This study genotyped 12 single nucleotide polymorphisms in 379 patients with psoriatic arthritis, 376 with cutaneous psoriasis, and 760 healthy controls using Sequenom's Mass ARRAY system. The aim of the study was to expand the database for psoriatic arthritis and cutaneous psoriasis, and develop a genetic prediction system for the early diagnosis of psoriatic arthritis in the Chinese population. One variant in NFKBIA, rs12883343, had a significantly different association with psoriatic arthritis than with cutaneous psoriasis (p = 4.93×10-10, odds ratio 2.371). This suggests that there are differences in the pathogenesis of psoriatic arthritis and cutaneous psoriasis.
- Published
- 2019
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48. Clinical Study on Complications of Intracranial Ruptured Aneurysm Embolization by Stent-Assisted Coil.
- Author
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Liu Y, Wang J, Lin L, Sang C, Lin Z, Pan Y, and Fu X
- Subjects
- Adult, Aged, Balloon Occlusion methods, Blood Vessel Prosthesis, Embolization, Therapeutic instrumentation, Female, Humans, Intracranial Embolism therapy, Male, Middle Aged, Retrospective Studies, Subarachnoid Hemorrhage therapy, Treatment Outcome, Aneurysm, Ruptured complications, Aneurysm, Ruptured therapy, Embolization, Therapeutic methods, Intracranial Aneurysm complications, Intracranial Aneurysm therapy, Stents
- Abstract
BACKGROUND The aim of this study was to retrospectively analyze the incidence of complications of intracranial complex aneurysms embolization by stent-assisted coils, and to investigate the causes of complications and corresponding treatment methods. MATERIAL AND METHODS A total of 71 patients with subarachnoid hemorrhage (SAH) underwent stent-assisted coil embolization from 2015 to 2018 were enrolled in this study. Among them, 59 cases were single aneurysm, 12 cases were multiple aneurysms (11 cases with 2 aneurysms and 1 case with 3 aneurysms), for a total of 84 aneurysms. All enrolled patients received stent angioplasty except for 1 case. RESULTS There were 62 aneurysms (73.81%) treated with complete tamponade, 21 aneurysms (25.00%) treated with near-total tamponade and 1 aneurysm (1.19%) treated with partial tamponade. All aneurysms were evaluated based on GOS (Glascow outcome scale): 55 cases had GOS of 5 scores, 12 cases had GOS of 4 scores, 3 cases had GOS of 3 scores, and 1 case had GOS of 1 score. There were 67 SAH patients with good prognosis (GOS of 4-5 scores). In our study, the incidence of complications was 12.7%. Three cases experienced acute thrombosis, 2 cases experienced aneurysm rupture during embolization, and 1 case experienced postoperative focal ischemic changes with mild neurological deficits. CONCLUSIONS Stent-assisted coil embolization is safe, effective, and feasible for the treatment of intracranial ruptured aneurysms. Patients had a favorable outcome of as high as 94.4%. However, clinical skills should be improved to reduce the occurrence of complications. Prompt and timely treatment for complications of intracranial ruptured aneurysm is also of great significance.
- Published
- 2018
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49. Prediction of leprosy in the Chinese population based on a weighted genetic risk score.
- Author
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Wang N, Wang Z, Wang C, Fu X, Yu G, Yue Z, Liu T, Zhang H, Li L, Chen M, Wang H, Niu G, Liu D, Zhang M, Xu Y, Zhang Y, Li J, Li Z, You J, Chu T, Li F, Liu D, Liu H, and Zhang F
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Asian People, Female, Humans, Male, Middle Aged, Models, Genetic, Risk Assessment, Young Adult, Genetic Predisposition to Disease, Genetic Testing methods, Leprosy genetics
- Abstract
Genome wide association studies (GWASs) have revealed multiple genetic variants associated with leprosy in the Chinese population. The aim of our study was to utilize the genetic variants to construct a risk prediction model through a weighted genetic risk score (GRS) in a Chinese set and to further assess the performance of the model in identifying higher-risk contact individuals in an independent set. The highest prediction accuracy, with an area under the curve (AUC) of 0.743 (95% confidence interval (CI): 0.729-0.757), was achieved with a GRS encompassing 25 GWAS variants in a discovery set that included 2,144 people affected by leprosy and 2,671 controls. Individuals in the high-risk group, based on genetic factors (GRS > 28.06), have a 24.65 higher odds ratio (OR) for developing leprosy relative to those in the low-risk group (GRS≤18.17). The model was then applied to a validation set consisting of 1,385 people affected by leprosy and 7,541 individuals in contact with leprosy, which yielded a discriminatory ability with an AUC of 0.707 (95% CI: 0.691-0.723). When a GRS cut-off value of 22.38 was selected with the optimal sensitivity and specificity, it was found that 39.31% of high risk contact individuals should be screened in order to detect leprosy in 64.9% of those people affected by leprosy. In summary, we developed and validated a risk model for the prediction of leprosy that showed good discrimination capabilities, which may help physicians in the identification of patients coming into contact with leprosy and are at a higher-risk of developing this condition., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2018
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50. A pathway-based association analysis identified FMNL1-MAP3K14 as susceptibility genes for leprosy.
- Author
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Zhang H, Wang Z, Fu X, Sun Y, Mi Z, Yu G, Sun L, Wang N, Wang C, Zhao Q, Pan Q, Yue Z, Liu H, and Zhang F
- Subjects
- Aged, Case-Control Studies, Female, Formins, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, NF-kappa B metabolism, Polymorphism, Single Nucleotide, NF-kappaB-Inducing Kinase, Cytoskeletal Proteins genetics, Genetic Predisposition to Disease, Leprosy genetics, Protein Serine-Threonine Kinases genetics, Signal Transduction genetics
- Abstract
The nuclear transcription factor-κB (NF-κB) plays a pivotal role in controlling both innate and adaptive immunity and regulates the expressions of many immunological mediators. Abundant evidences have showed the importance of NF-κB pathway in the host immune responses against Mycobacterium leprae in the development of leprosy. However, no particular association study between leprosy and NF-κB pathway-related gene polymorphisms was reported. Here, we performed a large-scale and two-stage candidate association study to investigate the association between 94 NF-κB pathway-related genes and leprosy. Our results showed that rs58744688 was significantly associated with leprosy (P = 7.57 × 10
-7 , OR = 1.12) by combining the previous genomewide association data sets and four independent validation sample series, consisting of a total of 4631 leprosy cases and 6413 healthy controls. This founding implicated that MAP3K14 and FMNL1 were susceptibility genes for leprosy, which suggested the involvement of macrophage targeting and NF-κB pathway in the development of leprosy., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)- Published
- 2018
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