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Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening
Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening
Genetic cause of AHDS in a male proband and to expanding the mutation spectrum of the SLC16A2 gene
Clinicopathological and Molecular Features of Primary Inflammatory Myofibroblastic Tumor in Nasal Cavity and Paranasal Sinuses
Clinicopathological and Molecular Features of Primary Inflammatory Myofibroblastic Tumor in Nasal Cavity and Paranasal Sinuses
Investigating the clinicopathological and molecular features of primary inflammatory myofibroblastic tumor in the nasal ca...
Prevalence of CYP2C19 Variants in Patients with Cardiovascular Disease from the Yunnan-Guizhou Plateau in Southwestern China
Prevalence of CYP2C19 Variants in Patients with Cardiovascular Disease from the Yunnan-Guizhou Plateau in Southwestern China
Investigating the frequency distributions of CYP2C19 alleles in patients with cardiovascular disease. Read more
Quercetin Inhibits Gastric Cancer Progression via FAM198B/MAPK Pathway Modulation
Quercetin Inhibits Gastric Cancer Progression via FAM198B/MAPK Pathway Modulation
This work found a link between FAM198B and quercetin, and the regulatory effect of FAM198B on the MAPK pathway of GC.
Associations Between FTO Polymorphisms and Neuroblastoma Risk in Chinese Children
Associations Between FTO Polymorphisms and Neuroblastoma Risk in Chinese Children
Revealing that individuals with retroperitoneal Neuroblastoma and those with stage III+IV NB are more prone to exhibit FTO...
Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing
Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing
The combination of MLPA and Sanger sequencing technologies can help make a definite genetic diagnosis for DMD patients. Re...
Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms
Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms
we elucidate clopidogrel's pharmacokinetic properties and pharmacodynamic mechanisms and evaluate its clinical efficacy an...
Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues
Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues
Analyzing the expression of THRSP, ACACA proteins in breast cancer tumor tissues and their relationship with clinicopathol...
Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review
Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review
We presented a case of a newly diagnosed NSCLC patient harboring concurrent EGFR L858R and KRAS G12A mutations.
The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data
The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data
Prevalence of interactions between PGx drugs metabolized by CYP2C9, CYP2C19, & CYP2D6 & drugs that act as inhibito...
Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI
Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI
Evaluating effect of ABCB1 C3435T gene polymorphism with hyperglycemia on the risk of major adverse cardiovascular events ...
Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies
Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies
We provide a thorough assessment of UC by synthesizing recent progress in understanding its pathogenesis, diagnostic bioma...
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort
Identifying novel genetic variants related to atrial septal defect within the Tibetan population using whole exome sequenc...
Genetic Landscape of VIP Pharmacogenomic Variants in the Kinh Vietnamese Population
Genetic Landscape of VIP Pharmacogenomic Variants in the Kinh Vietnamese Population
we study the high impact variants among 100 pharmacogenes which are involved in drug metabolism, transportation, oxidation...
Berberine Repairs Intestinal Mucosal Barrier by Targeting HSP90AA1 and MAPK14
Berberine Repairs Intestinal Mucosal Barrier by Targeting HSP90AA1 and MAPK14
Network pharmacology, mendelian randomization, molecular docking, and molecular dynamics simulations identifying potential...
TICRR Overexpression Enhances Disease Aggressiveness and Immune Infiltration of Cutaneous Melanoma
TICRR Overexpression Enhances Disease Aggressiveness and Immune Infiltration of Cutaneous Melanoma
Investigating the role of the TopBP1 interacting checkpoint and replication regulator (TICRR) in cutaneous melanoma (CM) a...
A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene
A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene
Presenting a case of hemiplegic migraine that bears the potential for misdiagnosis, particularly as encephalitis. Read more
Serum IFN-γ Predicts the Therapeutic Effect of Belimumab in Refractory Lupus Nephritis Patients
Serum IFN-γ Predicts the Therapeutic Effect of Belimumab in Refractory Lupus Nephritis Patients
To evaluate belimumabf's efficacy in refractory lupus nephritis (LN) patients and identify predictive serum biomarkers for...
Bioinformatics-Based Identification of Key Prognostic Genes in Neuroblastoma with a Focus on Immune Cell Infiltration and Diagnostic Potential of VGF
Bioinformatics-Based Identification of Key Prognostic Genes in Neuroblastoma with a Focus on Immune Cell Infiltration and Diagnostic Potential of VGF
Identifying differentially expressed genes (DEGs) in neuroblastoma (NB) through comprehensive bioinformatics analysis and ...
Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension
Pharmacogenomic Study of Selected Genes Affecting Amlodipine Blood Pressure Response in Patients with Hypertension
The correlation between single nucleotide polymorphisms in selected genes (CACNA1, CACNA1D, ABCB1, ACE, ADBR2, & NOS1A...
Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine
Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine
This review aim to delineate nuanced facets, advantageous and challenging, of Africa's genetic multiplicity vis-à-v...
Immune Microenvironment Alterations and Identification of Key Diagnostic Biomarkers in Chronic Kidney Disease Using Integrated Bioinformatics and Machine Learning
Immune Microenvironment Alterations and Identification of Key Diagnostic Biomarkers in Chronic Kidney Disease Using Integrated Bioinformatics and Machine Learning
Investigating immune cell infiltration, differential gene expression, pathway enrichment in CKD to identify key diagnostic...
Hsa_circ_0078767 Enhances Osteosarcoma Chemoresistance to Doxorubicin Through the Regulation of the miR-188-3p/GPX4 Axis
Hsa_circ_0078767 Enhances Osteosarcoma Chemoresistance to Doxorubicin Through the Regulation of the miR-188-3p/GPX4 Axis
To examine hsa_circ_0078767 as a mediator of doxorubicin (DOX) resistance in OS
Prognostic Value and Immunological Role of POP7 in Clear Cell Renal Cell Carcinoma
Prognostic Value and Immunological Role of POP7 in Clear Cell Renal Cell Carcinoma
The expression & prognostic value of POP family in ccRCC were analyzed & the relationship between POP7 & immun...
CD27 as a Diagnostic Biomarker and Its Role in Immune Heterogeneity and Predicting Clinical Drug Responses in Hashimoto’s Thyroiditis
CD27 as a Diagnostic Biomarker and Its Role in Immune Heterogeneity and Predicting Clinical Drug Responses in Hashimoto’s Thyroiditis
To identify key genes & potential molecular mechanisms associated with HT to provide new insights for the development ...
Associations Between the Polymorphisms in the Coding Sequence of SLCO1B1 and Blood Lipid Levels Before and After Treatment by Atorvastatin in the Chinese Han Adults with Dyslipidemia
Associations Between the Polymorphisms in the Coding Sequence of SLCO1B1 and Blood Lipid Levels Before and After Treatment by Atorvastatin in the Chinese Han Adults with Dyslipidemia
Role of SLCO1B1 gene polymorphisms and blood lipid levels before and after atorvastatin treatment among Chinese Han adults...
The Association of PLA2G7 Gene Polymorphisms with Serum Lp-PLA2 Activity and Lipid Profile in Han Chinese Patients with Coronary Heart Disease
The Association of PLA2G7 Gene Polymorphisms with Serum Lp-PLA2 Activity and Lipid Profile in Han Chinese Patients with Coronary Heart Disease
Investigating the distribution patterns of PLA2G7 gene variants in Han Chinese patients with coronary heart disease. Read ...
The Genetic and Molecular Drivers of Multiple Myeloma: Current Insights, Clinical Implications, and the Path Forward
The Genetic and Molecular Drivers of Multiple Myeloma: Current Insights, Clinical Implications, and the Path Forward
We report key controversies and challenges in defining the genetic drivers of Multiple Myeloma, & examine their implic...
PEAR1, PON1, CYP2C19, CYP1A2 and F2R Polymorphisms are Associated with MACE in Clopidogrel-Treated Patients with Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention
PEAR1, PON1, CYP2C19, CYP1A2 and F2R Polymorphisms are Associated with MACE in Clopidogrel-Treated Patients with Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention
PEAR1, PON1, CYP2C19, CYP1A2 and F2R Polymorphisms are Associated with MACE in Clopidogrel-Treated Patients with Acute Cor...
Identification of Bacterial Lipopolysaccharide-Associated Genes and Molecular Subtypes in Autism Spectrum Disorder
Identification of Bacterial Lipopolysaccharide-Associated Genes and Molecular Subtypes in Autism Spectrum Disorder
Role of Bacterial Lipopolysaccharide--associated genes in the immune responses of individuals with Autism Spectrum Disorder
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