Pharmacogenomics and Personalized Medicine, Volume 15, Issue (2022)

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Pharmacogenomics and Personalized Medicine, Volume 15, Issue (2022)

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Case Report

Case Report
A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature
Lan Wei, Ling Hou, Yan-Qin Ying & Xiao-Ping Luo
Pages: 1-8
Published online: 08 Jan 2022
AbstractforA Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature | Full Text | References | PDF (1.5 MB) | EPUB
  • 180 Views
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Open Access

Original Research

Article
Association Between SNPs in the One-Carbon Metabolism Pathway and the Risk of Female Breast Cancer in a Chinese Population
Xuhong Wang, Mengqiu Xiong, Bei Pan, William C S Cho, Jin Zhou, Shukui Wang & Bangshun He
Pages: 9-16
Published online: 11 Jan 2022
AbstractforAssociation Between SNPs in the One-Carbon Metabolism Pathway and the Risk of Female Breast Cancer in a Chinese Population | Full Text | References | PDF (413.5 KB) | EPUB
  • 137 Views
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Open Access
Article
Genetic and Psychosocial Risk Factors Associated with Suicide Among Community Veterans: Implications for Screening, Treatment and Precision Medicine
Joseph A Boscarino, Richard E Adams, Thomas G Urosevich, Stuart N Hoffman, H Lester Kirchner, Xin Chu, Weixing Shi, Joseph J Boscarino, Ryan J Dugan, Carrie A Withey & Charles R Figley
Pages: 17-27
Published online: 19 Nov 2022
AbstractforGenetic and Psychosocial Risk Factors Associated with Suicide Among Community Veterans: Implications for Screening, Treatment and Precision Medicine | Full Text | References | PDF (494.3 KB) | EPUB
  • 189 Views
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Open Access
Article
Identification of Potential Biological Factors Affecting the Treatment of Ticagrelor After Percutaneous Coronary Intervention in the Chinese Population
Dongdong Yuan, Xiangfen Shi, Liping Gao, Gaobiao Wan, Hanjuan Zhang, Yuling Yang, Yujie Zhao & Didi Sun
Pages: 29-43
Published online: 19 Nov 2022
AbstractforIdentification of Potential Biological Factors Affecting the Treatment of Ticagrelor After Percutaneous Coronary Intervention in the Chinese Population | Full Text | References | PDF (11.4 MB) | EPUB
  • 136 Views
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Open Access
Article
The Cyp2b6 Gene Polymorphism and Phenotypic Correlation of Efavirenz-Based Combination Therapy Among the Niger Delta Ethnic Population: Implications in Modern Pharmacogenomics
Samuel J Bunu, Azibanasamesa D C Owaba, Edebi N Vaikosen & Benjamin U Ebeshi
Pages: 45-54
Published online: 25 Jan 2022
AbstractforThe Cyp2b6 Gene Polymorphism and Phenotypic Correlation of Efavirenz-Based Combination Therapy Among the Niger Delta Ethnic Population: Implications in Modern Pharmacogenomics | Full Text | References | PDF (1.4 MB) | EPUB
  • 137 Views
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Open Access
Article
An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly
Jian-Feng Li, Guang-Lei Tian, Hui Pan, Wen-Tong Zhang, Da-Cun Li, Jing-Da Liu, Liang Zhao & Hai-Lei Li
Pages: 55-64
Published online: 29 Jan 2022
AbstractforAn Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly | Full Text | References | PDF (994.9 KB) | EPUB
  • 142 Views
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Open Access
Article
The Effect of SOCS2 Polymorphisms on Type 2 Diabetes Mellitus Susceptibility and Diabetic Complications in the Chinese Han Population
Juan Pan, Rui Tong, Qing Deng, Yanni Tian, Ning Wang, Yanqi Peng, Sijia Fei, Wei Zhang, Jiaqi Cui, Chaoying Guo, Juanchuan Yao, Cui Wei & Jing Xu
Pages: 65-79
Published online: 29 Jan 2022
AbstractforThe Effect of SOCS2 Polymorphisms on Type 2 Diabetes Mellitus Susceptibility and Diabetic Complications in the Chinese Han Population | Full Text | References | PDF (1.3 MB) | EPUB
  • 114 Views
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Open Access
Article
Clopidogrel Use and CYP2C19 Genotypes in Patients Undergoing Vascular Intervention Procedure: A Hospital-Based Study
Yi-Ju Liao, Tzu-Hung Hsiao, Ching-Heng Lin, Chun-Sheng Hsu, Yen-Lin Chang, Yu-Wei Chen, Chiann-Yi Hsu, Yi-Ming Chen & Ming-Fen Wu
Pages: 81-89
Published online: 02 Feb 2022
AbstractforClopidogrel Use and CYP2C19 Genotypes in Patients Undergoing Vascular Intervention Procedure: A Hospital-Based Study | Full Text | References | PDF (1 MB) | EPUB
  • 167 Views
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Open Access

Review

Review Article
Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis
Iram Haq, Maryam Almulhem, Simone Soars, David Poulton & Malcolm Brodlie
Pages: 91-104
Published online: 19 Nov 2022
AbstractforPrecision Medicine Based on CFTR Genotype for People with Cystic Fibrosis | Full Text | References | PDF (2.2 MB) | EPUB
  • 445 Views
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Open Access

Original Research

Article
GABRA1 and GABRB2 Polymorphisms are Associated with Propofol Susceptibility
Youjie Zeng, Si Cao, Minghua Chen, Chao Fang & Wen Ouyang
Pages: 105-117
Published online: 19 Nov 2022
AbstractforGABRA1 and GABRB2 Polymorphisms are Associated with Propofol Susceptibility | Full Text | References | PDF (280.8 KB) | EPUB
  • 256 Views
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Open Access
Article
Association of Drug-Metabolizing Enzyme and Transporter Gene Polymorphisms and Lipid-Lowering Response to Statins in Thai Patients with Dyslipidemia
Natchaya Vanwong, Sayanit Tipnoppanon, Chalitpon Na Nakorn, Pornpen Srisawasdi, Punyanuch Rodcharoen, Sadeep Medhasi, Pajaree Chariyavilaskul, Sarawut Siwamogsatham, Yongkasem Vorasettakarnkij & Chonlaphat Sukasem
Pages: 119-130
Published online: 19 Nov 2022
AbstractforAssociation of Drug-Metabolizing Enzyme and Transporter Gene Polymorphisms and Lipid-Lowering Response to Statins in Thai Patients with Dyslipidemia | Full Text | References | PDF (2.4 MB) | EPUB
  • 290 Views
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Open Access
Article
DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (ACSF3) in Saudi Autistic Children
Khloud Algothmi, Amal Alqurashi, Aisha Alrofaidi, Mona Alharbi, Reem Farsi, Najla Alburae, Magdah Ganash, Sheren Azhari, Fatemah Basingab, Asma Almuhammadi, Amany Alqosaibi, Heba Alkhatabi, Aisha Elaimi, Mohammed Jan, Hesham Aldhalaan, Aziza Alrafiah & Safiah Alhazmi
Pages: 131-142
Published online: 19 Nov 2022
AbstractforDNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (ACSF3) in Saudi Autistic Children | Full Text | References | PDF (4.3 MB) | EPUB
  • 154 Views
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Open Access
Article
Prediction of Tacrolimus Dose/Weight-Adjusted Trough Concentration in Pediatric Refractory Nephrotic Syndrome: A Machine Learning Approach
Xiaolan Mo, Xiujuan Chen, Xianggui Wang, Xiaoli Zhong, Huiying Liang, Yuanyi Wei, Houliang Deng, Rong Hu, Tao Zhang, Yilu Chen, Xia Gao, Min Huang & Jiali Li
Pages: 143-155
Published online: 19 Nov 2022
AbstractforPrediction of Tacrolimus Dose/Weight-Adjusted Trough Concentration in Pediatric Refractory Nephrotic Syndrome: A Machine Learning Approach | Full Text | References | PDF (5.3 MB) | EPUB
  • 195 Views
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Open Access
Article
Ferroptosis-Related APOE, BCL3 and ALOX5AP Gene Polymorphisms are Associated with the Risk of Thyroid Cancer
Zhifu Xiao & Haixia Zhao
Pages: 157-165
Published online: 19 Nov 2022
AbstractforFerroptosis-Related APOE, BCL3 and ALOX5AP Gene Polymorphisms are Associated with the Risk of Thyroid Cancer | Full Text | References | PDF (290.5 KB) | EPUB
  • 186 Views
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Open Access
Article
Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers’ Pneumoconiosis Susceptibility in Chinese Han Population
Hai Zhao, Yaqiong Huang, Hao Wang, Juan Zhao, Shanshan Tian, Haixia Bai, Mufang Guo, Caiping Dong, Yongliang Shi, Xia Li, Chengjun Zhu, Tao Feng, Xia Ma & Zhifei Hou
Pages: 167-175
Published online: 19 Nov 2022
AbstractforAssociations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers’ Pneumoconiosis Susceptibility in Chinese Han Population | Full Text | References | PDF (265.7 KB) | EPUB
  • 108 Views
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Open Access
Article
MicroRNA Dysregulation in Prostate Cancer
Vlad Horia Schitcu, Lajos Raduly, Andreea Nutu, Oana Zanoaga, Cristina Ciocan, Vlad Cristian Munteanu, Roxana Cojocneanu, Bogdan Petrut, Ioan Coman, Cornelia Braicu & Ioana Berindan-Neagoe
Pages: 177-193
Published online: 10 Mar 2022
AbstractforMicroRNA Dysregulation in Prostate Cancer | Full Text | References | PDF (8.9 MB) | EPUB
  • 203 Views
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Open Access
Article
Drug Resistance to HIV-1 Integrase Inhibitors Among Treatment-Naive Patients in Beijing, China
Fengting Yu, Qun Li, Linghang Wang, Hongxin Zhao, Hao Wu, Siyuan Yang, Yunxia Tang, Jiang Xiao & Fujie Zhang
Pages: 195-203
Published online: 19 Nov 2022
AbstractforDrug Resistance to HIV-1 Integrase Inhibitors Among Treatment-Naive Patients in Beijing, China | Full Text | References | PDF (2.3 MB) | EPUB
  • 159 Views
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Open Access
Article
Association Between Selected Single Nucleotide Polymorphisms in Globin and Related Genes and Response to Hydroxyurea Therapy in Ghanaian Children with Sickle Cell Disease
Gloria Pokuaa Manu, Catherine Segbefia, Benoit Banga N’guessan, Shadrack Asiedu Coffie & George Obeng Adjei
Pages: 205-214
Published online: 19 Nov 2022
AbstractforAssociation Between Selected Single Nucleotide Polymorphisms in Globin and Related Genes and Response to Hydroxyurea Therapy in Ghanaian Children with Sickle Cell Disease | Full Text | References | PDF (882.2 KB) | EPUB
  • 187 Views
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Open Access
Article
Value of UGT2B7-161 Single Nucleotide Polymorphism in Predicting the Risk of Cardiotoxicity in HER-2 Positive Breast Cancer Patients Who Underwent Pertuzumab Combined with Trastuzumab Therapy by PSL
Jian Li, Hui Luo, Ying-Ying Liu, Li-Xin Chen, Mei-Qin Zhu, Quan-Tong Deng, Dong-Mei Zhu, Zi-Mo Wang & Jin-Feng Xu
Pages: 215-225
Published online: 15 Mar 2022
AbstractforValue of UGT2B7-161 Single Nucleotide Polymorphism in Predicting the Risk of Cardiotoxicity in HER-2 Positive Breast Cancer Patients Who Underwent Pertuzumab Combined with Trastuzumab Therapy by PSL | Full Text | References | PDF (5 MB) | EPUB
  • 119 Views
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Open Access
Article
Increased Risk of Acute Lymphoblastic Leukemia in Adult Patients with GSTM1 Null Genetic Polymorphism
Ezeldine K Abdalhabib, Badr Alzahrani, Fehaid Alanazi, Abdulrahman Algarni, Ibrahim Khider Ibrahim, Hozifa A Mohamed, Hassan A Hamali, Abdullah A Mobarki, Gasim Dobie & Muhammad Saboor
Pages: 227-234
Published online: 15 Mar 2022
AbstractforIncreased Risk of Acute Lymphoblastic Leukemia in Adult Patients with GSTM1 Null Genetic Polymorphism | Full Text | References | PDF (276.7 KB) | EPUB
  • 191 Views
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Open Access
Article
The Single Nucleotide Polymorphisms of AP1S1 are Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Population
Feng Su, Yong Fang, Jinjie Yu, Tian Jiang, Siyun Lin, Shaoyuan Zhang, Lu Lv, Tao Long, Huiwen Pan, Junqing Qi, Qiang Zhou, Weifeng Tang, Guowen Ding, Liming Wang, Lijie Tan & Jun Yin
Pages: 235-247
Published online: 19 Nov 2022
AbstractforThe Single Nucleotide Polymorphisms of AP1S1 are Associated with Risk of Esophageal Squamous Cell Carcinoma in Chinese Population | Full Text | References | PDF (318.6 KB) | EPUB
  • 106 Views
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Open Access
Article
Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol
Vanessa Fontana, Richard Myles Turner, Ben Francis, Peng Yin, Benno Pütz, Timo P Hiltunen, Sanni Ruotsalainen, Kimmo K Kontula, Bertam Müller-Myhsok & Munir Pirmohamed
Pages: 249-260
Published online: 19 Nov 2022
AbstractforChromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol | Full Text | References | PDF (1.9 MB) | EPUB
  • 301 Views
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Open Access
Article
DNTTIP2 Expression is Associated with Macrophage Infiltration and Malignant Characteristics in Low-Grade Glioma
Yuan-Jie Liu, Shu-hong Zeng, Wei-hua Qian, Min-xian Tao, Ying-ying Zhu & Jie-pin Li
Pages: 261-275
Published online: 24 Mar 2022
AbstractforDNTTIP2 Expression is Associated with Macrophage Infiltration and Malignant Characteristics in Low-Grade Glioma | Full Text | References | PDF (12.1 MB) | EPUB
  • 166 Views
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Open Access
Article
Acyl-CoA Binding Domain Containing 4 Polymorphism rs4986172 and Expression Can Serve as Overall Survival Biomarkers for Hepatitis B Virus-Related Hepatocellular Carcinoma Patients After Hepatectomy
Huasheng Huang, Xiwen Liao, Guangzhi Zhu, Chuangye Han, Xiangkun Wang, Chengkun Yang, Xin Zhou, Tianyi Liang, Ketuan Huang & Tao Peng
Pages: 277-300
Published online: 29 Mar 2022
AbstractforAcyl-CoA Binding Domain Containing 4 Polymorphism rs4986172 and Expression Can Serve as Overall Survival Biomarkers for Hepatitis B Virus-Related Hepatocellular Carcinoma Patients After Hepatectomy | Full Text | References | PDF (27.3 MB) | EPUB
  • 131 Views
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Open Access
Article
ABCA7 rs3764650 Polymorphism is Associated with Delayed Neurocognitive Recovery
Lu Yu, Haiyan Ji, Minmin Zhou, Yaxin Guo, Junfeng Liu, Daoyun Lei, Chao Han & Tieliang Ma
Pages: 301-309
Published online: 30 Mar 2022
AbstractforABCA7 rs3764650 Polymorphism is Associated with Delayed Neurocognitive Recovery | Full Text | References | PDF (2.1 MB) | EPUB
  • 92 Views
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Open Access
Article
The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females
Junhong Cai, Siyuan Peng, Haibo Wang & Shan Bao
Pages: 311-325
Published online: 07 Apr 2022
AbstractforThe Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females | Full Text | References | PDF (1.5 MB) | EPUB
  • 147 Views
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Open Access
Article
Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study
Han Cen, Qin-Wen Wen, Han-Qing Zhang, Hang Yu, Zhen Zeng, Ting Jin, Ting-Hui Wang, Wen Qin, Hua Huang & Xiu-Di Wu
Pages: 327-339
Published online: 12 Apr 2022
AbstractforAssociations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study | Full Text | References | PDF (439.7 KB) | EPUB
  • 229 Views
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Open Access

Case Report

Case Report
Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella
Yingjie Xu, Binyi Yang, Cheng Lei, Danhui Yang, Shuizi Ding, Chenyang Lu, Lin Wang, Ting Guo, Rongchun Wang & Hong Luo
Pages: 341-350
Published online: 15 Apr 2022
AbstractforNovel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella | Full Text | References | PDF (4.4 MB) | EPUB
  • 169 Views
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Open Access

Original Research

Article
Association of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures
Yi Xiong, Ye He, Yan Peng & Yun Geng
Pages: 351-358
Published online: 19 Apr 2022
AbstractforAssociation of IL-6 and TGF-β Gene Polymorphisms with the Risk of Thoracolumbar Osteoporotic Vertebral Compression Fractures | Full Text | References | PDF (627.9 KB) | EPUB
  • 151 Views
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Open Access
Article
Association of Long Non-Coding RNAs (lncRNAs) ANRIL and MALAT1 Polymorphism with Cervical Cancer
Yueting Yao, Yan Liang, Xudong Dong, Shuyuan Liu, Shao Zhang, Weipeng Liu, Yu Li, Li Shi, Zhiling Yan & Yufeng Yao
Pages: 359-375
Published online: 19 Nov 2022
AbstractforAssociation of Long Non-Coding RNAs (lncRNAs) ANRIL and MALAT1 Polymorphism with Cervical Cancer | Full Text | References | PDF (418.7 KB) | EPUB
  • 166 Views
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Open Access
Article
Identification of NFASC and CHL1 as Two Novel Hub Genes in Endometriosis Using Integrated Bioinformatic Analysis and Experimental Verification
Pei Chen, Mengyun Yao, Tao Fang, Chaoshuang Ye, Yongjiang Du, Yang Jin & Ruijin Wu
Pages: 377-392
Published online: 19 Nov 2022
AbstractforIdentification of NFASC and CHL1 as Two Novel Hub Genes in Endometriosis Using Integrated Bioinformatic Analysis and Experimental Verification | Full Text | References | PDF (11.2 MB) | EPUB
  • 215 Views
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Open Access

Case Series

Case Report
Therapeutic Management of Patients with FLT3 + Acute Myeloid Leukemia: Case Reports and Focus on Gilteritinib Monotherapy
Monica Bocchia, Angelo Michele Carella, Antonino Mulè, Lorenzo Rizzo, Mauro Turrini, Maria Chiara Abbenante, Roberto Cairoli, Valeria Calafiore, Marzia Defina, Angelo Gardellini, Giovanni Luzi, Caterina Patti, Maria Beatrice Pinazzi, Marta Riva, Giovanni Rossi, Vincenzo Sammartano & Luigi Rigacci
Pages: 393-407
Published online: 22 Apr 2022
AbstractforTherapeutic Management of Patients with FLT3 + Acute Myeloid Leukemia: Case Reports and Focus on Gilteritinib Monotherapy | Full Text | References | PDF (4.1 MB) | EPUB
  • 298 Views
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Open Access

Original Research

Article
The Efficacy of a Didactic and Case-Based Pharmacogenomics Education Program on Improving the Knowledge and Confidence of Alberta Pharmacists
Meagan Hayashi, Sherif Hanafy Mahmoud & Dalia A Hamdy
Pages: 409-427
Published online: 19 Nov 2022
AbstractforThe Efficacy of a Didactic and Case-Based Pharmacogenomics Education Program on Improving the Knowledge and Confidence of Alberta Pharmacists | Full Text | References | PDF (3.7 MB) | EPUB
  • 198 Views
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Open Access
Article
Knowledge, Attitudes and Practices of Pharmacogenomics Among Senior Pharmacy Students: A Cross Sectional Study from Punjab, Pakistan
Shahid Shah, Muhammad Hanif, Hafeez Ullah Khan, Faiz Ullah Khan, Ghulam Abbas, Haris Khurram, Ahmed Khames, Mohamed A Abdelgawad, Amira S A Said, Mohammed A S Abourehab, Safirah Maheen, Usman Rashid Chand & Muhammad Haris
Pages: 429-439
Published online: 25 Apr 2022
AbstractforKnowledge, Attitudes and Practices of Pharmacogenomics Among Senior Pharmacy Students: A Cross Sectional Study from Punjab, Pakistan | Full Text | References | PDF (3.1 MB) | EPUB
  • 462 Views
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Open Access
Article
Susceptibility of Genetic Variations in Methylation Pathway to Gastric Cancer
Mengqiu Xiong, Bei Pan, Xuhong Wang, Junjie Nie, Yuqin Pan, Huiling Sun, Tao Xu, William C S Cho, Shukui Wang & Bangshun He
Pages: 441-448
Published online: 19 Nov 2022
AbstractforSusceptibility of Genetic Variations in Methylation Pathway to Gastric Cancer | Full Text | References | PDF (359.8 KB) | EPUB
  • 139 Views
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Open Access
Article
Missense Variant rs28362680 in BTNL2 Reduces Risk of Coronary Heart Disease
Jian Zhuo, Yingchun Wu, Wei Li, Zerong Li, Yipeng Ding & Tianbo Jin
Pages: 449-464
Published online: 06 May 2022
AbstractforMissense Variant rs28362680 in BTNL2 Reduces Risk of Coronary Heart Disease | Full Text | References | PDF (2.6 MB) | EPUB
  • 96 Views
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Open Access

Case Report

Case Report
Is Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? – A Case Report
Chiara Jeiziner, Samuel S Allemann, Kurt E Hersberger & Henriette E Meyer zu Schwabedissen
Pages: 465-475
Published online: 09 May 2022
AbstractforIs Pharmacogenetic Panel Testing Applicable to Low-Dose Methotrexate in Rheumatoid Arthritis? – A Case Report | Full Text | References | PDF (1.1 MB) | EPUB
  • 200 Views
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Original Research

Article
Correlation Between Angiotensin Receptor Type 1 Polymorphisms and Atherosclerotic Cerebral Infarction Risk
Linfa Chen, Ying Wang, Yajun Wang, Shaoting Huang, Zhaochun Wu, Jiawen He, Wangtao Zhong, Bin Zhao, Guoda Ma & You Li
Pages: 477-485
Published online: 19 Nov 2022
AbstractforCorrelation Between Angiotensin Receptor Type 1 Polymorphisms and Atherosclerotic Cerebral Infarction Risk | Full Text | References | PDF (650 KB) | EPUB
  • 84 Views
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Open Access
Article
Genetic Variations of CARMN Modulate Glioma Susceptibility and Prognosis in a Chinese Han Population
Min Xi, Gang Zhang, Liang Wang, Hu Chen, Li Gao, Luyi Zhang, Zhangkai Yang & Hangyu Shi
Pages: 487-497
Published online: 11 May 2022
AbstractforGenetic Variations of CARMN Modulate Glioma Susceptibility and Prognosis in a Chinese Han Population | Full Text | References | PDF (1.8 MB) | EPUB
  • 88 Views
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Open Access

Case Series

Case Report
Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran
Vincenzo Di Stefano, Antonella Fava, Luca Gentile, Pietro Guaraldi, Luca Leonardi, Loris Poli, Matteo Tagliapietra, Michele Vastola, Salvatore Fanara, Bruno Ferrero, Mauro Giorgi, Federico Perfetto, Massimo Russo & Domitilla Russo
Pages: 499-514
Published online: 19 Nov 2022
AbstractforItalian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran | Full Text | References | PDF (3.1 MB) | EPUB
  • 317 Views
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Original Research

Article
Psoriasis Patients with Specific HLA-Cw Alleles and Lower Plasma IL-17 Level Show Improved Response to Topical Lindioil Treatment
Yin-Ku Lin, Ching-Ya Wang, Yu-Huei Huang, Ya-Ching Chang, Chun-Bing Chen, Chuang-Wei Wang, Rosaline Chung-Yee Hui & Wen-Hung Chung
Pages: 515-524
Published online: 13 May 2022
AbstractforPsoriasis Patients with Specific HLA-Cw Alleles and Lower Plasma IL-17 Level Show Improved Response to Topical Lindioil Treatment | Full Text | References | PDF (539.4 KB) | EPUB
  • 121 Views
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Article
An Integrative Analysis Identifying RAB40C as an Oncogenic Immune Protein and Prognostic Marker of Lung Squamous Cell Carcinoma
Hong Wu, Xuhui Dong, Lixian Liao & Lihaoyun Huang
Pages: 525-537
Published online: 19 Nov 2022
AbstractforAn Integrative Analysis Identifying RAB40C as an Oncogenic Immune Protein and Prognostic Marker of Lung Squamous Cell Carcinoma | Full Text | References | PDF (9 MB) | EPUB
  • 124 Views
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Case Report

Case Report
Cancer Metastases from Lung Adenocarcinoma Disappeared After Molecular Targeted Therapy: A Successfully Clinical Treatment Experience
Meng-Jie Li, Jun Wei, Guo-Ping Ai, Ying Liu & Jian Zhu
Pages: 539-546
Published online: 19 Nov 2022
AbstractforCancer Metastases from Lung Adenocarcinoma Disappeared After Molecular Targeted Therapy: A Successfully Clinical Treatment Experience | Full Text | References | PDF (2.8 MB) | EPUB
  • 120 Views
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Original Research

Article
Gene Polymorphisms of m6A Erasers FTO and ALKBH1 Associated with Susceptibility to Gastric Cancer
Yue Li, Dalei Zhou, Qing Liu, Weijie Zhu, Zulu Ye & Caiyun He
Pages: 547-559
Published online: 31 May 2022
AbstractforGene Polymorphisms of m6A Erasers FTO and ALKBH1 Associated with Susceptibility to Gastric Cancer | Full Text | References | PDF (1.1 MB) | EPUB
  • 126 Views
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Open Access

Review

Review Article
Effect of Genetic Variations in Drug-Metabolizing Enzymes and Drug Transporters on the Pharmacokinetics of Rifamycins: A Systematic Review
Tesemma Sileshi, Gosaye Mekonen, Eyasu Makonnen & Eleni Aklillu
Pages: 561-571
Published online: 04 Jun 2022
AbstractforEffect of Genetic Variations in Drug-Metabolizing Enzymes and Drug Transporters on the Pharmacokinetics of Rifamycins: A Systematic Review | Full Text | References | PDF (558.1 KB) | EPUB
  • 232 Views
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Case Report

Case Report
Effective Treatment of Low-Grade Myofibroblastic Sarcoma with Apatinib: A Case Report and Literature Review
Yan Lin, Xing Gao, Ziyu Liu, Zhihui Liu, Yongqiang Li, Rong Liang, Zhiling Liao & Jiazhou Ye
Pages: 573-582
Published online: 07 Jun 2022
AbstractforEffective Treatment of Low-Grade Myofibroblastic Sarcoma with Apatinib: A Case Report and Literature Review | Full Text | References | PDF (8.4 MB) | EPUB
  • 159 Views
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Case Report
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
Jing Zeng, Baihui Shan, Lu Guo, Sha Lv & Fuqiu Li
Pages: 583-588
Published online: 19 Nov 2022
AbstractforCompound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report | Full Text | References | PDF (1.5 MB) | EPUB
  • 160 Views
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Original Research

Article
Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants
Jianpin Ye, Zhiwei Zeng, Yuxian Chen, Zhenkun Wu, Qingwei Yang & Tao Sun
Pages: 589-602
Published online: 19 Nov 2022
AbstractforExamining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants | Full Text | References | PDF (3.6 MB) | EPUB
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Article
Inducible Nitric Oxide Synthase iNOS-954-G>C and Ex16+14-C>T Gene Polymorphisms and Susceptibility to Vitiligo in the Saudi Population
Fahad Al-Harthi, Ghaleb Bin Huraib, Md Mustafa, Yasser Al-Qubaisy, Naif Al-Nomair, Nour Abdurrahman & Abdulrahman Al-Asmari
Pages: 603-612
Published online: 19 Nov 2022
AbstractforInducible Nitric Oxide Synthase iNOS-954-G>C and Ex16+14-C>T Gene Polymorphisms and Susceptibility to Vitiligo in the Saudi Population | Full Text | References | PDF (377 KB) | EPUB
  • 129 Views
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Review

Review Article
Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective
Keneuoe Cecilia Nthontho, Andrew Khulekani Ndlovu, Kirthana Sharma, Ishmael Kasvosve, Daniel Louis Hertz & Giacomo Maria Paganotti
Pages: 613-652
Published online: 21 Jun 2022
AbstractforPharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective | Full Text | References | PDF (910.7 KB) | EPUB
  • 457 Views
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Original Research

Article
Effect of Apolipoprotein E ε4 Allele on the Progression of Carotid Atherosclerosis Through Apolipoprotein Levels
Wenbing Ma, Liting Zhang, Lei Luo, Suya Zhang, Shuang Yang, Hongping Yao, Lei Zhang, Xiaoyun Lu & Weiyi Feng
Pages: 653-661
Published online: 21 Jun 2022
AbstractforEffect of Apolipoprotein E ε4 Allele on the Progression of Carotid Atherosclerosis Through Apolipoprotein Levels | Full Text | References | PDF (395.1 KB) | EPUB
  • 96 Views
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Open Access
Article
Impact of HOXB4 and PRDM16 Gene Expressions on Prognosis and Treatment Response in Acute Myeloid Leukemia Patients
Yomna M El-Meligui, Naglaa M Hassan, Amira B Kassem, Nora A Gouda, Marwa Mohanad, Manal A Hamouda & Ahmad Salahuddin
Pages: 663-674
Published online: 25 Jun 2022
AbstractforImpact of HOXB4 and PRDM16 Gene Expressions on Prognosis and Treatment Response in Acute Myeloid Leukemia Patients | Full Text | References | PDF (1.8 MB) | EPUB
  • 174 Views
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Review

Review Article
The Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants: A Systematic Review
Nadir Yalçin, Robert B Flint, Ron H N van Schaik, Sinno H P Simons & Karel Allegaert
Pages: 675-696
Published online: 30 Jun 2022
AbstractforThe Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants: A Systematic Review | Full Text | References | PDF (1.8 MB) | EPUB
  • 247 Views
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Open Access

Case Report

Case Report
Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia
Binyi Yang, Cheng Lei, Danhui Yang, Chenyang Lu, Yingjie Xu, Lin Wang, Ting Guo, Rongchun Wang & Hong Luo
Pages: 697-704
Published online: 11 Jul 2022
AbstractforIdentification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia | Full Text | References | PDF (2.9 MB) | EPUB
  • 180 Views
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Open Access

RAPID COMMUNICATION

Rapid Communication
Germline PRDM1 Variant rs2185379 in Long-Term Recurrence-Free Survivors of Advanced Ovarian Cancer
Takashi Mitamura, Tianyue Zhai, Kanako C Hatanaka, Yutaka Hatanaka, Toraji Amano, Lei Wang, Shinya Tanaka & Hidemichi Watari
Pages: 977-984
Published online: 29 Nov 2022
AbstractforGermline PRDM1 Variant rs2185379 in Long-Term Recurrence-Free Survivors of Advanced Ovarian Cancer | Full Text | References | PDF (2 MB) | EPUB
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ORIGINAL RESEARCH

Article
Decreased Expression of a Novel lncRNA FAM181A-AS1 is Associated with Poor Prognosis and Immune Infiltration in Lung Adenocarcinoma
Weiquan Liang, Yiyu Lu, Xingxi Pan, Yunxiang Zeng, Weiqiang Zheng, Yiran Li, Yuanhang Nie, Dongbing Li & Dongliang Wang
Pages: 985-998
Published online: 01 Dec 2022
AbstractforDecreased Expression of a Novel lncRNA FAM181A-AS1 is Associated with Poor Prognosis and Immune Infiltration in Lung Adenocarcinoma | Full Text | References | PDF (6.1 MB) | EPUB
  • 137 Views
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Article
Cuproptosis-Related Gene – SLC31A1, FDX1 and ATP7B – Polymorphisms are Associated with Risk of Lung Cancer
Yuhui Yun, Yun Wang, Ende Yang & Xin Jing
Pages: 733-742
Published online: 02 Dec 2022
AbstractforCuproptosis-Related Gene – SLC31A1, FDX1 and ATP7B – Polymorphisms are Associated with Risk of Lung Cancer | Full Text | References | PDF (501.2 KB) | EPUB
  • 302 Views
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Open Access

CASE REPORT

Case Report
Utilizing Pharmacogenomics Results to Determine Opioid Appropriateness and Improve Pain Management in a Patient with Osteoarthritis
Katie Pizzolato, David Thacker, Nicole Marie Del Toro-Pagán, Nishita S Amin, Abeer Hanna, Jacques Turgeon & Veronique Michaud
Pages: 943-950
Published online: 02 Dec 2022
AbstractforUtilizing Pharmacogenomics Results to Determine Opioid Appropriateness and Improve Pain Management in a Patient with Osteoarthritis | Full Text | References | PDF (504.3 KB) | EPUB
  • 172 Views
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Open Access

REVIEW

Review
A Study on the Molecular Mechanism of High Altitude Heart Disease in Children
Qu-Zhen Tashi, Sang-Bu Tsering, Na-Ni Zhou, Yi Zhang, Yu-Juan Huang, Jia Jia & Ting-Jun Li
Pages: 721-731
Published online: 02 Dec 2022
AbstractforA Study on the Molecular Mechanism of High Altitude Heart Disease in Children | Full Text | References | PDF (3.1 MB) | EPUB
  • 170 Views
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Open Access

CASE REPORT

Case Report
The Role of Single Nucleotide Polymorphisms in Transporter Proteins and the Folate Metabolism Pathway in Delayed Methotrexate Excretion: A Case Report and Literature Review
Jun Wang, Yue-Tao Zhao, Meng-Jiao Sun, Feng Chen & Hong-Li Guo
Pages: 919-926
Published online: 02 Nov 2022
AbstractforThe Role of Single Nucleotide Polymorphisms in Transporter Proteins and the Folate Metabolism Pathway in Delayed Methotrexate Excretion: A Case Report and Literature Review | Full Text | References | PDF (2.3 MB) | EPUB
  • 128 Views
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Open Access

ORIGINAL RESEARCH

Article
Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder
Safiah Alhazmi, Maryam Alzahrani, Reem Farsi, Mona Alharbi, Khloud Algothmi, Najla Alburae, Magdah Ganash, Sheren Azhari, Fatemah Basingab, Asma Almuhammadi, Amany Alqosaibi, Heba Alkhatabi, Aisha Elaimi, Mohammed Jan, Hesham M Aldhalaan, Aziza Alrafiah & Aisha Alrofaidi
Pages: 705-720
Published online: 20 Jul 2022
AbstractforMultiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder | Full Text | References | PDF (12.4 MB) | EPUB
  • 240 Views
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Open Access

CASE REPORT

Case Report
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo & Juliana Lores
Pages: 913-918
Published online: 02 Dec 2022
AbstractforMowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies | Full Text | References | PDF (433.9 KB) | EPUB
  • 128 Views
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Open Access
Case Report
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
Lina Perafan-Valdes, Sebastian Giraldo-Ocampo, Juliana Lores & Harry Pachajoa
Pages: 873-878
Published online: 02 Dec 2022
AbstractforNeurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 | Full Text | References | PDF (1.5 MB) | EPUB
  • 146 Views
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Open Access
Case Report
Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review
Hang Yu, Wenwei Zhao, Yongqing Ni & Linlin Li
Pages: 867-872
Published online: 02 Dec 2022
AbstractforShwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review | Full Text | References | PDF (1.9 MB) | EPUB
  • 128 Views
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Open Access

original RESEARCH

Article
Downregulation of Crystallin Lambda 1 is a New Independent Prognostic Marker in Clear Cell Renal Cell Carcinoma
Lingsong Feng, Guodong Ding, Yang Zhou, Haiyuan Zhu & Huiming Jiang
Pages: 857-866
Published online: 02 Dec 2022
AbstractforDownregulation of Crystallin Lambda 1 is a New Independent Prognostic Marker in Clear Cell Renal Cell Carcinoma | Full Text | References | PDF (9.2 MB) | EPUB
  • 119 Views
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ORIGINAL RESEARCH

Article
Risk Factors and Predictive Model for Dermatomyositis Associated with Rapidly Progressive Interstitial Lung Disease
Kai Wang, Yian Tian, Shanshan Liu, Zhongyuan Zhang, Leilei Shen, Deqian Meng & Ju Li
Pages: 775-783
Published online: 02 Dec 2022
AbstractforRisk Factors and Predictive Model for Dermatomyositis Associated with Rapidly Progressive Interstitial Lung Disease | Full Text | References | PDF (2.5 MB) | EPUB
  • 154 Views
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Open Access
Article
Prescription Advice Based on Data of Drug-Drug-Gene Interaction of Patients with Polypharmacy
Sandro Salamone, Sara Spirito, Maurizio Simmaco, Marius Unger, Saskia Preissner, Björn-Oliver Gohlke, Andreas Eckert & Robert Preissner
Pages: 765-773
Published online: 18 Aug 2022
AbstractforPrescription Advice Based on Data of Drug-Drug-Gene Interaction of Patients with Polypharmacy | Full Text | References | PDF (3.1 MB) | EPUB
  • 121 Views
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Open Access
Article
Genome-Wide Association Study on the Hematological Phenotypic Characteristics of the Han Population from Northwest China
Wei Yang, Xue He, Yuying Yao, Hongyan Lu, Yuliang Wang, Zhanhao Zhang, Yuhe Wang, Li Wang, Yongjun He, Dongya Yuan & Tianbo Jin
Pages: 743-763
Published online: 02 Dec 2022
AbstractforGenome-Wide Association Study on the Hematological Phenotypic Characteristics of the Han Population from Northwest China | Full Text | References | PDF (15 MB) | EPUB
  • 106 Views
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Open Access
Article
PFKP and GPC6 Variants Were Correlated with Alcohol-Induced Femoral Head Necrosis Risk in the Chinese Han Population
Chang Liu, Xuan Liu & Xiaolin Li
Pages: 797-808
Published online: 09 Sep 2022
AbstractforPFKP and GPC6 Variants Were Correlated with Alcohol-Induced Femoral Head Necrosis Risk in the Chinese Han Population | Full Text | References | PDF (5.1 MB) | EPUB
  • 95 Views
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Open Access
Article
IL-10 rs1800896 Polymorphism: A Risk Factor for Adult Acute Lymphoblastic Leukemia
Ezeldine K Abdalhabib, Badr Alzahrani, Muhammad Saboor, Alneil Hamza, Elyasa M Elfaki, Fehaid Alanazi, Fawaz O Alenazy, Abdulrahman Algarni, Ibrahim Khider Ibrahim, Hozifa A Mohamed, Ayman Hussein Alfeel & Nahla Ali Alshaikh
Pages: 809-815
Published online: 12 Sep 2022
AbstractforIL-10 rs1800896 Polymorphism: A Risk Factor for Adult Acute Lymphoblastic Leukemia | Full Text | References | PDF (410.9 KB) | EPUB
  • 201 Views
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Open Access
Article
Contribution of ZBTB20 Polymorphisms to Esophageal Cancer Risk Among the Chinese Han Population
Shuyong Yu, Guihong Yuan, Feixiang Hu, Yongyu Li, Zhuang Chen, Ronglin Zhang, Ping Li, Zhaowei Chen & Jian Song
Pages: 827-842
Published online: 02 Dec 2022
AbstractforContribution of ZBTB20 Polymorphisms to Esophageal Cancer Risk Among the Chinese Han Population | Full Text | References | PDF (1.3 MB) | EPUB
  • 96 Views
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Open Access
Article
Association of CYP7A1 and CYP2E1 Polymorphisms with Type 2 Diabetes in the Chinese Han Populations
Lihong Zhang, Jingjing Tang, Yindi Wang, Xiang Wang & Fang Wang
Pages: 843-855
Published online: 02 Dec 2022
AbstractforAssociation of CYP7A1 and CYP2E1 Polymorphisms with Type 2 Diabetes in the Chinese Han Populations | Full Text | References | PDF (564.7 KB) | EPUB
  • 166 Views
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Open Access
Article
Next-Generation Sequencing and Bioinformatics-Based Protocol for the Full-Length CYP2E1 Gene Polymorphism Analysis
Viktorija Igumnova, Agnija Kivrane, Anda Viksna, Inga Norvaisa & Renate Ranka
Pages: 959-965
Published online: 08 Nov 2022
AbstractforNext-Generation Sequencing and Bioinformatics-Based Protocol for the Full-Length CYP2E1 Gene Polymorphism Analysis | Full Text | References | PDF (1.4 MB) | EPUB
  • 127 Views
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Open Access
Article
CES1 and SLC6A2 Genetic Variants As Predictors of Response To Methylphenidate in Autism Spectrum Disorders
Marta H Hernandez, Valentin Bote, Alexandre Serra-LLovich, Marc Cendros, Juliana Salazar, Conxita Mestres, Silvina Guijarro, Aida Alvarez, Cristina Lamborena, Iria Mendez, Bernardo Sanchez, Amaia Hervas & Maria J Arranz
Pages: 951-957
Published online: 08 Nov 2022
AbstractforCES1 and SLC6A2 Genetic Variants As Predictors of Response To Methylphenidate in Autism Spectrum Disorders | Full Text | References | PDF (457.1 KB) | EPUB
  • 185 Views
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Article
Utilization of Drugs with Pharmacogenetic Dosing Recommendations in Switzerland: A Descriptive Study Using the Helsana Database
Nina L Wittwer, Christoph R Meier, Carola A Huber, Henriette E Meyer zu Schwabedissen, Samuel Allemann & Cornelia Schneider
Pages: 967-976
Published online: 23 Nov 2022
AbstractforUtilization of Drugs with Pharmacogenetic Dosing Recommendations in Switzerland: A Descriptive Study Using the Helsana Database | Full Text | References | PDF (1.9 MB) | EPUB
  • 145 Views
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Open Access

REVIEW

Review
Drug–Drug–Gene Interactions in Cardiovascular Medicine
Innocent G Asiimwe & Munir Pirmohamed
Pages: 879-911
Published online: 02 Nov 2022
AbstractforDrug–Drug–Gene Interactions in Cardiovascular Medicine | Full Text | References | PDF (5 MB) | EPUB
  • 504 Views
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Open Access

ORIGINAL RESEARCH

Article
Expression Profile and Bioinformatics Analysis of Circular RNAs in Patients with Vitiligo
Rongxin Zhang, Zhao Hou, Kexin Liao, Chao Yu, Rongrong Jing & Caixia Tu
Pages: 785-796
Published online: 20 Dec 2022
AbstractforExpression Profile and Bioinformatics Analysis of Circular RNAs in Patients with Vitiligo | Full Text | References | PDF (7.8 MB) | EPUB
  • 139 Views
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Open Access
Article
The Association Between Genetic Polymorphisms of Transporter Genes and Prognosis of Platinum-Based Chemotherapy in Lung Cancer Patients
Jia He, Zhan Wang, Ting Zou, Ying Wang, Xiang-Ping Li & Juan Chen
Pages: 817-825
Published online: 14 Sep 2022
AbstractforThe Association Between Genetic Polymorphisms of Transporter Genes and Prognosis of Platinum-Based Chemotherapy in Lung Cancer Patients | Full Text | References | PDF (2.2 MB) | EPUB
  • 175 Views
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Open Access

PERSPECTIVES

What Personalized Medicine Humans Need and Way to It ——also on the Practical Significance and Scientific Limitations of Precision Medicine
Bing Yuan
Pages: 927-942
Published online: 20 Dec 2022
AbstractforWhat Personalized Medicine Humans Need and Way to It ——also on the Practical Significance and Scientific Limitations of Precision Medicine | Full Text | References | PDF (1 MB) | EPUB
  • 324 Views
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Open Access

ORIGINAL RESEARCH

Article
AZGP1 Up-Regulation is a Potential Target for Andrographolide Reversing Radioresistance of Colorectal Cancer
Ye-Ying Fang, Jin-Mei Huang, Jia-Ying Wen, Jian-Di Li, Jin-Hai Shen, Da-Tong Zeng, Yan-Fang Pan, He-Qing Huang, Zhi-Guang Huang, Li-Min Liu & Gang Chen
Pages: 999-1017
Published online: 13 Dec 2022
AbstractforAZGP1 Up-Regulation is a Potential Target for Andrographolide Reversing Radioresistance of Colorectal Cancer | Full Text | References | PDF (14.9 MB) | EPUB
  • 210 Views
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Open Access
Article
Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia
Xiao-Yan Ren, Meng-Ruo Xue, Zhao-Li Yan, Shao-Jie Zhang, Min Liu & Ai-Zhen Li
Pages: 1019-1027
Published online: 19 Dec 2022
AbstractforClinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia | Full Text | References | PDF (886.8 KB) | EPUB
  • 172 Views
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Open Access

CASE REPORT

Case Report
Severe Vincristine-Induced Neuropathic Pain: A Case Report with Pharmacogenetic Analysis and Literature Review
Ya-Hui Hu, Gui-Zhou Li, Jia-Yi Long, Qing-Yan Yang, Yong Zhang, Feng Chen & Yong-Ren Wang
Pages: 1029-1035
Published online: 30 Dec 2022
AbstractforSevere Vincristine-Induced Neuropathic Pain: A Case Report with Pharmacogenetic Analysis and Literature Review | Full Text | References | PDF (1.9 MB) | EPUB
  • 222 Views
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