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3321
Intratumor Genetic Heterogeneity of Breast Carcinomas as Determined by Fine Needle Aspiration and TaqMan Low Density Array
Published 2007-01-01“…Background: Gene expression profiling is thought to be an important tool in determining treatment strategies for breast cancer patients. …”
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3322
Reverse Genetic Strategies in Caenorhabditis elegans: Towards Controlled Manipulation of the Genome
Published 2011-01-01“…This has led to an increasing need to identify the biological functions of specific genes using reverse genetics, i.e., moving from gene to phenotype. …”
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Pharmacogenetics of Oral Antidiabetic Drugs
Published 2013-01-01“…SLC22A1 and SLC47A1 encode metformin transporters OCT1 and MATE1, respectively. The function of a gene variant near ATM gene identified by a genome-wide association study is not elucidated so far. …”
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3326
The Effect of Irisin as a Metabolic Regulator and Its Therapeutic Potential for Obesity
Published 2021-01-01“…Finally, the review discussed the existing unresolved issues and controversies about irisin, including the transcription of the irisin precursor FNDC5 gene in humans, the cleavage site of the yet unknown proteolytic enzyme that cleaves irisin from FNDC5, and the reliability of irisin levels measured with available detection methods.…”
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3327
The Relationship between Cadherin Polymorphisms and the Risk of Delayed Encephalopathy after Acute Carbon Monoxide Poisoning in the Chinese Han Population
Published 2022-01-01“…We used the Sequenom MassARRAY® system to detect cadherin gene SNPs related to DEACMP. Using different genetic analysis models, we evaluated the relationship between the cadherin gene polymorphisms and risk of DEACMP. …”
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3328
Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema
Published 2024-09-01“…Results In our investigation, we have discovered a novel pathogenic variant of the SERPING1 gene, specifically c.708T > G, in a Han family affected by HAE. …”
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3329
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
Published 2016-01-01“…This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. …”
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3330
Pirfenidone Accelerates Wound Healing in Chronic Diabetic Foot Ulcers: A Randomized, Double-Blind Controlled Trial
Published 2017-01-01“…Relative ulcer volume (RUV) was measured every month; biopsies were taken at baseline and months 1 and 2 for histopathology and gene expression analysis for COL-1α, COL-4, KGF, VEGF, ACTA2 (α-SMA), elastin, fibronectin, TGF-β1, TGF-β3, HIF-1α, and HIF-1β. …”
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Genome-Wide Profiling of Human Papillomavirus DNA Integration into Human Genome and Its Influence on PD-L1 Expression in Chinese Uygur Cervical Cancer Women
Published 2020-01-01“…We aimed to investigate the integration situation of 20 subtypes of HPV gene into host cell genome in Chinese Uygur cervical cancer patients; meanwhile, we explored the influence of gene integration on PD-L1 expression. …”
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3333
A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
Published 2019-01-01“…We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. …”
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3334
Correcting scale distortion in RNA sequencing data
Published 2025-01-01“…Using simulations, we show that these biases corrupt gene-gene correlation estimations and t tests between subpopulations. …”
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Prostate Cancer Susceptibility Loci Identified in GATA2 and ZMIZ1 in Chinese Population
Published 2022-01-01“…The allele frequency distributions of rs73862213 and rs2335052 in the GATA2 gene and rs704017 and rs77911174 in the ZMIZ1 gene were found to be significantly different between PCa cases and controls. …”
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Temporal transcriptional profiling of host cells infected by a veterinary alphaherpesvirus using nanopore sequencing
Published 2025-01-01“…Viral infection-induced differential gene expression was identified through the edgeR package. …”
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Epigenome-wide association study of Chinese monozygotic twins identifies DNA methylation loci associated with estimated glomerular filtration rate
Published 2025-01-01“…The comb-p was used to identify differentially methylated regions (DMRs). GeneMANIA was used to analyze the gene interaction network. …”
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In Vitro Screening and Transfection Concentration Optimization of Cynomolgus Monkey IκBα-siRNA
Published 2020-01-01“…To seek for a small interfering RNA (siRNA) sequence targeting a cynomolgus monkey inhibitor of nuclear factor kappa B α (IκBα) that can specifically and effectively suppress IκBα gene expression of cynomolgus monkey ciliary muscle (CM) cells and trabecular meshwork (TM) cells in vitro and screen for optimal siRNA transfection concentration. …”
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