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- Volume 17, Issue 3, 2020
Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) - Volume 17, Issue 3, 2020
Volume 17, Issue 3, 2020
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Genetic Determinants Involved in the Osteoporosis Pathophysiology
Authors: Madiha Nooreen, Shafia Fatima, Raju Nagarapu, Mazharuddin A. Khan and Aleem Ahmed KhanOsteoporosis is a chronic disease characterized by decreased bone mass and distorted microarchitecture that leads to increased bone fragility making an individual prone to fractures. It is one of the most widely affected diseases worldwide that has the potential to cause serious morbidity, mortality and cost implications. It is a multifactorial disease that is influenced by the interaction between genetic, hormonal, nutritional a Read More
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AtreMorine Treatment Regulates DNA Methylation in Neurodegenerative Disorders: Epigenetic and Pharmacogenetic Studies
Background: Neurodegenerative disorders are one of the major health problems in Western countries. Genetic and epigenetic mechanisms play crucial roles in the origin and progression of these disorders. DNA methylation is the most widely studied epigenetic mark and is an important regulator of gene expression. Objective: Little is known about the influence of bioactive dietary components on epigenetic mechanisms i Read More
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Gene Frequency of CYP2D6*4 and *10 Variants in Karachi Population
Authors: Tamkeen Fatima, Farah Zeb and Ahsana D. FarooqBackground: In the human population, CYP2D6 is highly polymorphic group of genes involved in metabolizing ~25% of all clinically used neuroleptic and antidepressant drugs. The CYP2D6*4 and CYP2D6*10 variants are prevalent in Asian population exhibiting variable drug metabolizing ability thereby affecting drug therapeutic responses. Objective: To determine the genotypic frequencies of CYP2D6*1 (Normal metabolizer), *4 Read More
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Novel Somatic Mutations of the CDH1 Gene Associated with Gastric Cancer: Prediction of Pathogenicity Using Comprehensive In silico Methods
Background: Mutations in the CDH1 and the role of E-cadherin proteins are well established in gastric cancer. Several in silico tools are available to predict the pathogenicity of the mutations present in the genes with varying efficiency and sensitivity to detect the pathogenicity of the mutations. Objective: Our objective was to identify somatic pathogenic variants in CDH1 involved in Gastric Cancer (GC) by Sanger sequencing as w Read More
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Expression of Angiogenesis-related Genes in a Group of Iranian Cases of Breast Cancer
Aims: This study aims to design an angiogenesis gene expression profile; to study angiogenesis gene expression profile in breast cancer; and to map angiogenesis gene expression profile in individual participants. Background: In molecular etiology of each disease, there are some important molecules involved in the related pathways. From the viewpoint of precision medicine, molecular etiology of a disease is different person Read More
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T Allele of the DRD2 Taq1A Gene Polymorphism Increases the Predisposition to Drug Addiction in Indonesian Population
Authors: Viren Ramadhan, Faisal Rahman, Ahmad H. Sadewa and Zullies IkawatiBackground: Dopamine plays an important role in mediating the rewarding properties in the abuse of drugs. The Taq1A polymorphism is a commonly studied DRD2 gene variant whereby carriers of the low-function T allele (T/T or T/C genotypes) show reduced brain dopamine function. Therefore, individuals who have the DRD2 Taq1A polymorphism will experience higher levels of drug addiction because the T allele is ass Read More
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Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation
Authors: Mor Saban and Tal ShacharBackground: Hereditary spastic paraplegia is a neurodegenerative disorder with a pure and complex form. More than 50 genetic types are currently known, with different ages of onset for characteristic symptoms. Data regarding hereditary spastic paraplegia remain scarce, and the rare subtype of spastic paraplegia type 5 is no exception. Objective: This report presents data regarding the case of a single family, fro Read More
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