1,565 results match your criteria Genetic testing and molecular biomarkers[Journal]


Analysis of the Yp11.2 Deletion Region of Phenotypically Normal Males with an -Null Allele in the Chinese Han Population.

Genet Test Mol Biomarkers 2019 Apr 17. Epub 2019 Apr 17.

1 Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

The amelogenin gene is a widely used gender marker for forensic DNA profiling. Males who have the amelogenin Y () allele deletion can be mistakenly identified as females if genotyping is performed only on the amelogenin gene. The aim of this study was to investigate the frequency of the allele deletion in the Chinese Han population and analyze the possible genetic variation on the Y chromosome. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0231DOI Listing
April 2019
1 Read

Downregulated Expression of Chromobox Homolog 7 in Hepatocellular Carcinoma.

Genet Test Mol Biomarkers 2019 Apr 16. Epub 2019 Apr 16.

1 Department of Epidemiology and Statistics, School of Public Health, Guilin Medical University, Guilin, P.R. China.

Background: As an essential member of the Polycomb group (PcG) proteins, chromobox homolog 7 (CBX7) is found deregulated in some human cancers, and is thought to be a contributing factor in carcinogenesis. However, the expression and role of CBX7 in hepatocellular carcinoma (HCC) is still not well identified.

Materials And Methods: The levels of CBX7 protein was quantified in 75 paired HCC and adjacent nontumor tissues by immunohistochemistry and comparisons were made using McNemar's chi-square test. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0293DOI Listing
April 2019
1 Read

Urine-Based Liquid Biopsy for Nonurological Cancers.

Genet Test Mol Biomarkers 2019 Apr;23(4):277-283

2 Department of Translational Medical Science, The Baruch S. Blumberg Institute, Doylestown, Pennsylvania.

Aims: The use of circulating cell-free DNA for detection of cancer genetics has been studied extensively. Liquid biopsy often refers to the use of blood as a minimally invasive source of body fluid for detecting circulating tumor DNA (ctDNA). However, urine collection, which is completely noninvasive, has been shown to also have great promise to serve as an alternate body fluid source for ctDNA. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0189DOI Listing

Application of Differentially Methylated Loci in Clinical Diagnosis of Trisomy 21 Syndrome.

Genet Test Mol Biomarkers 2019 Apr;23(4):246-250

3 Department of Molecular Medicine Center, Second Affiliated Hospital of Soochow University, Suzhou, China.

Aims: To determine the diagnostic precision of using different sets of fetal-specific methylation markers with methylation-sensitive restriction enzyme-quantitative polymerase chain reaction (MSRE-qPCR) for detection of trisomy 21 (T21).

Materials And Methods: The diagnostic value for trisomy 21 of differential methylation of HLCS, C21orf25, and RASSF1A (a fetal-specific internal control) was examined by MSRE-qPCR.

Results: The combined marker set of HLCS and RASSF1A achieved accurate quantification of fetal-specific chromosome 21 and was an excellent marker for detecting the presence of three copies of chromosome 21. Read More

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0176
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http://dx.doi.org/10.1089/gtmb.2018.0176DOI Listing
April 2019
2 Reads

The Rise of Noninvasive Diagnostic Technologies.

Authors:
Garth D Ehrlich

Genet Test Mol Biomarkers 2019 Apr;23(4):229

1 Department of Microbiology and Immunology and Drexel University College of Medicine, Philadelphia, Pennsylvania.

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https://www.liebertpub.com/doi/10.1089/gtmb.2019.29044.gde
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http://dx.doi.org/10.1089/gtmb.2019.29044.gdeDOI Listing
April 2019
1 Read

Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA.

Genet Test Mol Biomarkers 2019 Apr;23(4):264-269

1 Clinical Laboratory, Longgang Central Hospital of Shenzhen, Shenzhen, China.

Background: Qualitative and quantitative detection of circulating tumor DNA (ctDNA) is a liquid biopsy technology used for early cancer diagnosis. However, the plasma ctDNA content is extremely low, so it is difficult to detect somatic mutations of tumors using conventional sequencing methods. Target region sequencing (TRS) technology, through enrichment of the target genomic region followed by next generation sequencing, overcomes this challenge and has been widely used in ctDNA sequencing. Read More

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0173
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http://dx.doi.org/10.1089/gtmb.2018.0173DOI Listing
April 2019
2 Reads

Comprehensive Evaluation of the Factors Affecting Plasma Circulating Cell-Free DNA Levels and Their Application in Diagnosing Nonsmall Cell Lung Cancer.

Genet Test Mol Biomarkers 2019 Apr;23(4):270-276

1 Department of Clinical Pharmacology Research Laboratory, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China.

Aims: Circulating cell-free DNA (ccfDNA) is a valuable biomarker, but the ccfDNA levels are influenced by variations that occur during sample processing. The feasibility of using ccfDNA as a diagnostic biomarker requires further examination.

Materials And Methods: We established a real-time PCR assay with an external standard to comprehensively evaluate the factors affecting ccfDNA levels, including the extraction kit used, freeze-thaw stability, and stability of delayed extraction. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0106DOI Listing
April 2019
2 Reads

An Old Concept with a New Twist.

Authors:
Ying-Hsiu Su

Genet Test Mol Biomarkers 2019 Apr;23(4):230-232

The Baruch S. Blumberg Institute, Doylestown, Pennsylvania.

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0326
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http://dx.doi.org/10.1089/gtmb.2018.0326DOI Listing
April 2019
1 Read

Identification of an Exosomal Long Noncoding RNA SOX2-OT in Plasma as a Promising Biomarker for Lung Squamous Cell Carcinoma.

Genet Test Mol Biomarkers 2019 Apr;23(4):235-240

Department of Laboratory Medicine, The First Affiliated Hospital of China Medical University, Shenyang, P.R. China.

Aims: Evaluation of nucleic acids in plasma exosomes is a noninvasive method that can be used to detect different types of cancer. The aim of this study was to determine the value of exosomal long noncoding RNAs (lncRNAs) in detecting lung squamous cell carcinoma (LSCC).

Materials And Methods: A total of 75 LSCC patients and 79 negative control subjects were enrolled in the study. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0103DOI Listing

Evaluation of Biochemical Parameters Present in the Saliva of Patients with Chronic Periodontitis: Results from a Meta-Analysis.

Genet Test Mol Biomarkers 2019 Apr;23(4):255-263

Laboratory of Histological Analysis and Preparation (LAPHIS), Federal University of Piauí, Parnaíba, Brazil.

Aims: Periodontitis results from the presence of periodontopathogenic bacterial activity in the region of the gingival sulcus promoting tissue degradation and alveolar bone resorption. Biochemical analysis of the saliva can be used as a less invasive method for disease prognosis. This study aimed to evaluate the relationship between biochemical protein levels in the saliva sample of patients with chronic periodontitis and healthy patients. Read More

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http://dx.doi.org/10.1089/gtmb.2017.0272DOI Listing
April 2019
1 Read

CCAAT/Enhancer Binding Protein β-Mediated MMP3 Upregulation Promotes Esophageal Squamous Cell Cancer Invasion In Vitro and Is Associated with Metastasis in Human Patients.

Genet Test Mol Biomarkers 2019 Apr 10. Epub 2019 Apr 10.

6 Department of Pathology, Henan Provincial People's Hospital, Zhengzhou University, Zhengzhou, People's Republic of China.

Aims: Metastasis is a significant obstacle to curing esophageal squamous cell carcinoma (ESCC). CCAAT/enhancer binding protein β (C/EBPβ) and matrix metalloproteinase 3 (MMP3) are thought to play key roles in cancer invasion and metastasis. In this study, we aimed to detect whether C/EBPβ-mediated tumor invasion was dependent on MMP3. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0291DOI Listing
April 2019
1 Read

Serum miR-210-3p as a Potential Noninvasive Biomarker of Lung Adenocarcinoma: A Preliminary Study.

Genet Test Mol Biomarkers 2019 Apr 5. Epub 2019 Apr 5.

1 Department of Medical Biochemistry, Faculty of Health Sciences with the Division of Nursing and Midwifery, Medical University of Lodz, Lodz, Poland.

Background: Development of noninvasive biomarkers could potentially contribute to extending the 5-year overall survival rate of nonsmall cell lung cancer (NSCLC) patients. Circulating microRNAs (miRNAs), due to their high stability, have the potential to become valuable cancer biomarkers.

Methods: Using reverse transcription-quantitative polymerase chain reaction and testing three methods for data normalization, the expression levels of six miRNAs were evaluated in serum samples obtained from 50 NSCLC patients. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0275DOI Listing
April 2019
1 Read

Association of VAMP8 rs1010 Polymorphism with Host Susceptibility to Pulmonary Tuberculosis in a Chinese Han Population.

Genet Test Mol Biomarkers 2019 Apr 4. Epub 2019 Apr 4.

1 Department of Laboratory Medicine, The First Hospital of China Medical University, Shenyang, Liaoning, P.R. China.

Aims: Autophagic eradication of pathogenic microbes, including Mycobacterium tuberculosis (Mtb), is an effective host immune process that protects hosts from developing diseases associated with intracellular pathogens. This study was designed to investigate the association between the single nucleotide polymorphisms (SNPs) of the autophagy-related genes VAMP8 and VTI1B, and the susceptibility to pulmonary tuberculosis (PTB) in a Chinese Han population.

Materials And Methods: Two SNPs, rs1010 from the VAMP8 gene and rs15493 from the VTI1B gene, were examined in 202 PTB patients and 216 healthy controls using high-resolution melt-polymerase chain reaction. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0265DOI Listing
April 2019
2 Reads

Role of VDR, GC, and CYP2R1 Polymorphisms in the Development of Hepatocellular Carcinoma in Hepatitis C Virus-Infected Patients.

Genet Test Mol Biomarkers 2019 Apr 3. Epub 2019 Apr 3.

1 Laboratory of Molecular Virology and Oncology, Department of Bioengineering and Technology, Gauhati University Institute of Science and Technology, Gauhati University, Guwahati, India.

Aims: This study was designed to determine if vitamin D receptor (VDR), carrier globulin/binding protein (GC), and cytochrome P-450 family 2, subfamily R, polypeptide 1 (CYP2R1) gene polymorphisms are risk factors in the development of hepatocellular carcinoma (HCC) in hepatitis C virus (HCV)-infected patients from Northeast India.

Materials And Methods: A total of 351 HCV-infected patients were enrolled of which 167 were diagnosed with chronic hepatitis C (CHC), 124 with liver cirrhosis (LC), and 60 with HCC together with 102 age- and sex-matched healthy controls. VDR (BsmI, ApaI, and TaqI), GC (rs4588, rs7051), and CYP2R1 (rs10741657) gene polymorphisms were genotyped for all subjects. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0170DOI Listing
April 2019
4 Reads

The Effect of Angiotensin-Converting Enzyme Gene Polymorphisms on the Clinical Efficacy of Perindopril Prescribed for Acute Myocardial Infarction in Chinese Han Patients.

Genet Test Mol Biomarkers 2019 Apr 3. Epub 2019 Apr 3.

2 Department of Emergency, Yuhuangding Hospital Affiliated to Qingdao University, Yantai, P.R. China.

Objective: Perindopril is an angiotensin-converting enzyme (ACE) inhibitor that is commonly used in the treatment of Chinese Han patients with acute myocardial infarction (AMI). However, there have been few studies on whether polymorphisms of the ACE gene affect the efficacy of perindopril or the prognosis of AMI patients. The purpose of this study was to analyze the relationship among the ACE rs121912703 (C>T), rs767880620 (C>A), and rs397514689 (C>T) gene polymorphisms and the prognosis of AMI patients and the clinical efficacy of perindopril in the treatment of AMI. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0232DOI Listing

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-lethal Spondyloepiphyseal Dysplasia Congenita.

Genet Test Mol Biomarkers 2019 Mar 30. Epub 2019 Mar 30.

5 Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

Objective: Heterozygous pathogenic variants in the COL2A1 gene result in several clinical features including impaired skeletal growth, ocular and otolaryngological abnormalities. Missense mutations, specifically, a c.1357G>A (p. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0301DOI Listing
March 2019
2 Reads

Association Between the CYP4F2 Gene rs1558139 and rs2108622 Polymorphisms and Hypertension: A Meta-Analysis.

Genet Test Mol Biomarkers 2019 Mar 30. Epub 2019 Mar 30.

Institute for Risk Assessment of Chronic Diseases, School of Nursing and Health Sciences, Henan University, Kaifeng, Henan, P.R. China.

Objective: To investigate the association between the CYP4F2 gene rs1558139 and rs2108622 polymorphisms and hypertension.

Materials And Methods: In this meta-analysis, we searched databases for case-control studies published before May 2018 examining the associations between two polymorphic sites of the CYP4F2 gene (rs1558139 and rs2108622) and hypertension. The fixed or random effects model chosen was selected according to the heterogeneity of the studies to calculate the pooled odds ratios (OR) and corresponding 95% confidence intervals (95% CI). Read More

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http://dx.doi.org/10.1089/gtmb.2018.0202DOI Listing
March 2019
1 Read

Association Between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A Polymorphisms and Atopic Dermatitis Susceptibility: A Meta-Analysis.

Genet Test Mol Biomarkers 2019 Mar 30. Epub 2019 Mar 30.

1 Department of Dermatology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Aims: The aim of this study was to summarize the currently available evidence on the associations between the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A polymorphisms and susceptibility to atopic dermatitis (AD).

Materials And Methods: Five electronic databases including PubMed, the Web of Science, Excerpta Medica dataBASE, the Cochrane Library, and the China National Knowledge Infrastructure were searched for potential studies. Studies illustrating the association of the IL-10-1082G/A, IL-10-592A/C, and IL-10-819G/A polymorphisms and AD susceptibility were included in this meta-analysis. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0276DOI Listing
March 2019
1 Read

Add Water and Serve: Liquid Biopsies Making Waves.

Authors:
Sharon F Terry

Genet Test Mol Biomarkers 2019 Apr 28;23(4):233-234. Epub 2019 Mar 28.

Genetic Alliance, Washington, District of Columbia.

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http://dx.doi.org/10.1089/gtmb.2019.29045.sjtDOI Listing

Liquid Biopsy in Solid Malignancy.

Genet Test Mol Biomarkers 2019 Apr 27;23(4):284-296. Epub 2019 Mar 27.

2 Division of Gastroenterology and Hepatology, Johns Hopkins School of Medicine, Baltimore, Maryland.

The clinical utility of tissue biopsies in cancer management will continue to expand, especially with the evolving role of targeted therapies. "Liquid biopsy" refers to testing a patient's biofluid samples such as blood or urine to detect tumor-derived molecules and cells that can be used diagnostically and prognostically in the assessment of cancer. Many proof-of-concept and pilot studies have shown the clinical potential of liquid biopsies as diagnostic and prognostic markers which would provide a surrogate for the conventional "solid biopsy". Read More

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http://dx.doi.org/10.1089/gtmb.2018.0237DOI Listing

Applications of Next-Generation Sequencing in Neoantigen Prediction and Cancer Vaccine Development.

Genet Test Mol Biomarkers 2019 Mar 22. Epub 2019 Mar 22.

Thoracic Oncology Program, Department of Surgery, University of California, San Francisco, San Francisco, California.

Next-generation sequencing has changed the face of cancer immunotherapy research by making tumor-specific cancer vaccines a reality. Whole exome sequencing and RNA sequencing combined with bioinformatic pipelines allow the prediction of neoantigen targets for cancer vaccines. In this review, we discuss the preclinical and early clinical evidence for cancer vaccines; describe methods and challenges in neoantigen prediction; and summarize emerging new technologies that will improve neoantigen cancer vaccine development. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0211DOI Listing

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Genet Test Mol Biomarkers 2019 Mar 22. Epub 2019 Mar 22.

1 Department of Pathology, Princess Margaret Hospital, Hong Kong, China.

Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies, might be nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0185DOI Listing
March 2019
1 Read

Raising the Bar at GTMB.

Authors:
Garth D Ehrlich

Genet Test Mol Biomarkers 2019 03;23(3):151-152

1 Departments of Microbiology and Immunology, and Otolaryngology-Head and Neck Surgery, Drexel University College of Medicine, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1089/gtmb.2019.0042DOI Listing
March 2019
1 Read

Genetics Is Forging New Frontiers in Mental Health Care: A Patient-Centered Collaborative Approach Will Smooth the Journey.

Genet Test Mol Biomarkers 2019 03;23(3):153-155

1 Genetic Alliance, Washington, District of Columbia.

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http://dx.doi.org/10.1089/gtmb.2019.29043.sjtDOI Listing

Association of Foxp3 and TGF-β1 Polymorphisms with Pre-Eclampsia Risk in Chinese Women.

Genet Test Mol Biomarkers 2019 Mar;23(3):180-187

2 Department of Obstetrics and Gynecology, Shenzhen Hospital of Southern Medical University, Shenzhen, China.

Purpose: The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the genes that encode forkhead box p3 (Foxp3) (rs3761549 C>T, rs2280883T>C, rs2232365 A>G and rs3761548 C>A) and transforming growth factor (TGF)-β1 (rs11466359 C>T, rs11466345 A>G and rs1800469 T>C) are associated with pre-eclampsia (PE) risk in Chinese women.

Materials And Methods: SNPs were identified by polymerase chain reaction and ligase detection reaction. Allelic variant and genotype frequencies for Foxp3 and TGF-β1 were compared between PE women (n = 203) and healthy pregnant (HP) controls (n = 243). Read More

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http://dx.doi.org/10.1089/gtmb.2018.0279DOI Listing
March 2019
2 Reads

Association of ARID5B and IKZF1 Variants with Leukemia from Northern India.

Genet Test Mol Biomarkers 2019 Mar 27;23(3):176-179. Epub 2019 Feb 27.

1 Cancer Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.

Background: Leukemia is a heterogeneous disorder, characterized by elevated proliferation of white blood cells. Various genetic studies have assessed the contributory roles of several single nucleotide polymorphisms with the development of leukemia. The role of genetic variation in the ARID5B and IKZF1 genes has previously been identified in various population groups; however, the role of these variants in the north Indian populations of Jammu and Kashmir is unknown. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0283DOI Listing
March 2019
1 Read

Dual-Targeting of miR-124-3p and ABCC4 Promotes Sensitivity to Adriamycin in Breast Cancer Cells.

Genet Test Mol Biomarkers 2019 Mar 26;23(3):156-165. Epub 2019 Feb 26.

2 Department of Thyroid Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, P.R. China.

Aims: Increasing evidence links the abnormal expression of microRNAs and ATP-binding cassette subfamily C member 4 (ABCC4) with tumor development and progression, as well as with chemoresistance. Our aims were to determine the therapeutic potential of targeting both miR-124-3p and ABCC4 in breast cancer cells and to determine if duel targeting increased their sensitivity to chemotherapeutic drugs, in vitro.

Materials And Methods: The expression of the ABCC4 protein and miR-124-3p were detected, respectively, by immunohistochemical staining and quantitative real-time polymerase chain reaction in breast cancer tumor tissue, MCF-7 and MCF-7-ADR cell lines. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0259DOI Listing
March 2019
1 Read

Association of IL-13, S100B, and TLR-7 Gene Polymorphisms with Enterovirus 71 Infection in Hand, Foot, and Mouth Disease in China.

Genet Test Mol Biomarkers 2019 Mar 26;23(3):188-196. Epub 2019 Feb 26.

2 Department of Hyperbaric Oxygenation, Dongying People's Hospital, Dongying, China.

Aim: This study was conducted to determine if single nucleotide polymorphisms within the interleukin (IL)-13 (rs20541 locus), the S100B (rs9722 locus), and the toll-like receptor (TLR)-7 (rs179019 and rs3853839 loci) genes are associated with the clinical severity of disease caused by enterovirus 71 (EV71) in children suffering from hand, foot, and mouth disease (HFMD).

Materials And Methods: A total of 355 children, diagnosed with HFMD, were divided into two groups: severe (totaling 162 cases) and mild (totaling 193 cases). Three hundred healthy children were recruited as a control group. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0239DOI Listing
March 2019
3 Reads

Interaction Between AGTR1 and PPARγ Gene Polymorphisms on the Risk of Nonalcoholic Fatty Liver Disease.

Genet Test Mol Biomarkers 2019 Mar 22;23(3):166-175. Epub 2019 Feb 22.

3 Department of Epidemiology and Statistics, School of Public Health, Jiangsu Key Laboratory and Translational Medicine for Geriatric Disease, Medical College of Soochow University, Suzhou, China.

Aims: Nonalcoholic fatty liver disease (NAFLD) is an important public health issue worldwide. Several recent studies have reported that peroxisome proliferator-activated receptor-γ (PPARγ) and angiotensin II type 1 receptor (AGTR1) variants are associated with NAFLD occurrence, but the results have been inconsistent. The aim of this study was to analyze the interactions between PPARγ and AGTR1 polymorphisms and their associations with NAFLD in Chinese adults. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0203DOI Listing
March 2019
2 Reads

Progress of Exosomes in the Diagnosis and Treatment of Pancreatic Cancer.

Genet Test Mol Biomarkers 2019 Mar 22;23(3):215-222. Epub 2019 Feb 22.

1 Department of Gastroenterology, Affiliated Hospital of Nantong University, Nantong, P.R. China.

Pancreatic cancer (PC) is a digestive system tumor that is highly malignant, with an increasing incidence rate, poor prognosis, and a low 5-year survival rate. The overwhelming majority of patients with PC are in an advanced stage at the time of diagnosis and have lost the opportunity for radical surgery. The efficacy of radiotherapy and chemotherapy for PC is very poor. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0235DOI Listing

Genome-Wide mRNA-Seq Profiling Reveals that LEF1 and SMAD3 Regulate Epithelial-Mesenchymal Transition Through the Hippo Signaling Pathway During Palatal Fusion.

Genet Test Mol Biomarkers 2019 Mar 15;23(3):197-203. Epub 2019 Feb 15.

2 Department of Infectious Diseases, Second Affiliated Hospital of Shantou University Medical College, Shantou, Shantou, Guangdong, China.

Background: Epithelial-mesenchymal transition (EMT) of the medial edge epithelium (MEE) occurs through fusion of the palatal shelves and is a crucial step in palatogenesis. The key genes, however, and the related signaling pathway of EMT are not yet fully understood. Therefore, the aim of this study was to reveal the key genes and the related signaling pathway of EMT during palatal fusion. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0221DOI Listing
March 2019
1 Read

miRNA-24 Gene Sequence, DHFR -829C-T Genotypes, and Methotrexate Response in Mexican Patients with Rheumatoid Arthritis.

Genet Test Mol Biomarkers 2019 Mar 13;23(3):223-227. Epub 2019 Feb 13.

1 Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.

Aim: The present study looked for variation in the miRNA-24 sequence, and evaluated the associations between the dihydrofolate reductase (DHFR) gene-829 C-T polymorphism and plasma DHFR concentrations with response to methotrexate (MTX) treatment in Mexican patients with rheumatoid arthritis (RA).

Methods: A total of 135 women with RA were classified as responders (disease activity score [DAS28] <3.2) or nonresponders to MTX (DAS28 > 3. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450450PMC
March 2019
1 Read

Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel.

Genet Test Mol Biomarkers 2019 Mar 13;23(3):209-214. Epub 2019 Feb 13.

Department of Pharmacotherapy and Translational Research, Center for Pharmacogenomics and Precision Medicine, College of Pharmacy, University of Florida, Gainesville, Florida.

Aims: This study was designed to develop a high-resolution melting (HRM) analysis-based cardiovascular (CV) pharmacogenetics (PGx) genotyping panel for the Canon DNA Genetic Analyzer multiplex genotyping platform and cross-validate its performance with the TaqMan-based OpenArray method.

Methods: The CV PGx genotyping panel containing 17 single nucleotide polymorphisms (SNPs) selected from 5 genes (CYP2C9, CYP2C19, CYP4F2, SLCO1B1, and VKORC1) and the CYP2C cluster was used to compare genotyping results between analysis methods. Genomic DNA from 223 clinical samples was used to genotype the 17 SNPs on the Canon DNA Genetic Analyzer and TaqMan OpenArray Quant Studio Real-Time PCR (polymerase chain reaction) System. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0298DOI Listing
March 2019
2 Reads

Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.

Genet Test Mol Biomarkers 2019 Mar 13;23(3):204-208. Epub 2019 Feb 13.

1 Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.

Aims: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary deafness. Despite its frequency, the diagnosis of this disorder continues to be a challenging task given its extreme genetic heterogeneity. The purpose of this study was to identify the causative mutation in a consanguineous United Arab Emirates (UAE) family with ARNSHL. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0264DOI Listing
March 2019
10 Reads

miR-148a-3p Suppresses the Proliferation and Invasion of Esophageal Cancer by Targeting DNMT1.

Genet Test Mol Biomarkers 2019 Feb;23(2):98-104

First Oncology Ward, Henan Province Hospital of TCM, Zhengzhou, P.R. China.

Aim: To identify whether miR-148a-3p interacts with DNA (cytosine-5)-methyltransferase 1 (DNMT1) in esophageal cancer.

Methods: A luciferase assay and immunoblotting were performed to detect the relationship between miR-148a-3p and DNMT1. The MTT method, Annexin V/propidium iodide staining, and Transwell assays were adopted to assess the biological behaviors in EC109 cells. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0285DOI Listing
February 2019

The Counselor Will Videoconference You Now: Addressing Opportunities and Challenges with Patient-Clinician Communication in the Telemedicine Era.

Genet Test Mol Biomarkers 2019 02;23(2):73-74

1 Genetic Alliance, Washington, District of Columbia.

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http://dx.doi.org/10.1089/gtmb.2019.29042.sjtDOI Listing
February 2019

Increased Levels of miR-155 are Related to Higher T-Cell Activation in the Peripheral Blood of Patients with Chronic Hepatitis B.

Genet Test Mol Biomarkers 2019 Feb;23(2):118-123

2 Department of Infectious Diseases, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.

Objectives: MicroRNA-155 (miR-155) is an important regulator of immune responses in humans. However, its role in T-cell activation in hepatitis B virus (HBV) infection remains unclear.

Materials And Methods: Eighty-one patients with chronic hepatitis B (CHB), 77 HBV carriers, and 51 healthy controls were recruited. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0092DOI Listing
February 2019

Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans.

Genet Test Mol Biomarkers 2019 Feb 29;23(2):105-117. Epub 2019 Jan 29.

1 Department of Biomathematics, Faculty of Medicine, University of Thessaly, Larissa, Greece.

Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have produced inconclusive or inconsistent results. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0209DOI Listing
February 2019
3 Reads

The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation.

Genet Test Mol Biomarkers 2019 Feb 28;23(2):145-149. Epub 2019 Jan 28.

1 Institute Ideia Fértil of Reproductive Health, Santo André, Brazil.

Aims: To correlate differences in estradiol levels in serum and follicular fluid with genetic variants and to determine if they play a role in the results following assisted reproductive technology (ART).

Patients And Methods: A cross-sectional study was developed at the Ideia Fértil Institute of Reproductive Health. Two hundred two female patients were selected and underwent controlled ovarian hyperstimulation cycles. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0205DOI Listing
February 2019
2 Reads

Association of PAR-2 Gene Polymorphisms with the Inflammatory Response and Susceptibility to Knee Osteoarthritis in the Chinese Han Population.

Genet Test Mol Biomarkers 2019 Feb 28;23(2):84-90. Epub 2019 Jan 28.

4 Department of Orthopaedics, Tongde Hospital of Zhejiang Province, Zhejiang, China.

Objective: To investigate the relationship between single nucleotide polymorphisms (SNPs) of protease-activated receptor 2 (PAR-2) and the susceptibility to knee osteoarthritis (KOA) and synovial expression of inflammatory factors in the Chinese Han population.

Methods: Three hundred fifty KOA patients (KOA group) and 345 healthy volunteers (control group) were recruited for the study. Five milliliters of venous blood was taken from each subject to detect the PAR-2 rs1529505, rs631465, and rs2242991 locus genotypes. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0219DOI Listing
February 2019
2 Reads

Genetic Testing Across Young Hispanic and Non-Hispanic White Breast Cancer Survivors: Facilitators, Barriers, and Awareness of the Genetic Information Nondiscrimination Act.

Genet Test Mol Biomarkers 2019 Feb 24;23(2):75-83. Epub 2019 Jan 24.

3 Vanderbilt University Medical Center, Department of Medicine, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.

Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors.

Materials And Methods: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire.

Results: There were 1182 participants of which 61% (174/285) of Hispanic patients, and 65% (580/897) of NHW patients had BC testing. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383572PMC
February 2019
1 Read

High Expression of ABRACL Is Associated with Tumorigenesis and Affects Clinical Outcome in Gastric Cancer.

Genet Test Mol Biomarkers 2019 Feb 24;23(2):91-97. Epub 2019 Jan 24.

1 Pharmacy Department, Qingdao Municipal Hospital, Qingdao, China.

Background: The ABRA C-terminal like (ABRACL) protein belongs to a novel family of low-molecular weight proteins that increase actin dynamics and cell motility. It is involved in various diseases including cancer; however, its role in gastric cancer is unclear. In this study, the expression of ABRACL in gastric cancer and its relationships with patients' clinicopathological features and survival are examined. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0195DOI Listing
February 2019
1 Read

Detection of BRAFV600E Mutation in Melanoma Patients by Digital PCR of Circulating DNA.

Genet Test Mol Biomarkers 2019 Apr 24;23(4):241-245. Epub 2019 Jan 24.

1 Division of Oncology, Biomedical Center Martin JFM CU, Commenius University in Bratislava, Jessenius Faculty of Medicine in Martin (JFM CU), Martin, Slovakia.

Aims: About 50% of melanomas have the BRAFV600E mutation. This mutation is an attractive therapeutic target. The aims of our study were to detect BRAFV600E mutations within circulating cell-free DNA in plasma ("liquid biopsy") by a droplet digital PCR (ddPCR) method, and to investigate how well the Breslow-Clark score can be predicted by ddPCR. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0193DOI Listing
April 2019
4 Reads

β-Adrenergic Receptor Gene Polymorphisms Are Associated with Cardiovascular Events But not All-Cause Mortality in Coronary Artery Disease Patients: A Meta-Analysis of Prospective Studies.

Genet Test Mol Biomarkers 2019 Feb 22;23(2):124-137. Epub 2019 Jan 22.

1 Department of Cardiology, Beijing Hospital, National Center of Gerontology, Beijing, People's Republic of China.

Aims: β-Adrenergic receptors (ADRBs) play a pivotal role in cardiovascular disease. Recently, genetic polymorphisms of ADRB1 and ADRB2 have been suggested to be associated with cardiovascular events and all-cause mortality in coronary artery disease (CAD) patients, but the results of relevant studies are inconsistent and controversial. Therefore, we performed a meta-analysis to investigate the association between ADRB1 and ADRB2 polymorphisms with cardiovascular events and all-cause mortality in CAD patients. Read More

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0153
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http://dx.doi.org/10.1089/gtmb.2018.0153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383583PMC
February 2019
5 Reads

Association of Base Excision Repair Gene hOGG1 Ser326Cys Polymorphism with Susceptibility to Cervical Squamous Cell Carcinoma and High-Risk Human Papilloma Virus Infection in a Chinese Population.

Genet Test Mol Biomarkers 2019 Feb 16;23(2):138-144. Epub 2019 Jan 16.

1 Women's Reproductive Health Key Laboratory of Zhejiang Province, School of Medicine, Women's Hospital, Zhejiang University, Hangzhou, P.R. China.

Aim: This study investigated the association of the human 8-oxoguanine glycosylase 1 (hOGG1) Ser326Cys polymorphism with risk of cervical squamous cell carcinoma (CSCC) and high-risk human papilloma virus (HR-HPV) infection.

Background: The hOGG1 Ser326Cys polymorphism is reported to be correlated with the risk of several cancers. However, there are reports that have found no significant differences in the frequency of the hOGG1 Ser326Cys between cervical carcinoma patients and controls. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0150DOI Listing
February 2019
4 Reads

Higher DNA Yield for Epidemiological Studies: A Better Method for DNA Extraction from Blood Clot.

Genet Test Mol Biomarkers 2019 Jan;23(1):66-72

MOE-Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Blood clots can be used to extract DNA, but they are not as widely used as whole blood or buffy coats. This is due not only because of the relatively low DNA yields and quality obtained from blood clots, but also because sampling prior to DNA extraction is more difficult.

Methods: To solve these problems, we compared several clot liquefaction methods, determined the four most feasible methods, and subsequently performed a comparative analysis among them. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0131DOI Listing
January 2019
3 Reads

Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.

Genet Test Mol Biomarkers 2019 Jan;23(1):45-50

16 WHO Collaborating Centre, University of Dundee Dental School, Dundee, Scotland.

Objective: Nonsyndromic orofacial cleft (NSOFC) including cleft lip with or without cleft palate (CL±P) and cleft palate (CP) are multifactorial developmental disorders with both genetic and environmental etiological factors. In this study we investigated the association between CL±P and CP, and two polymorphisms previously determined using genome-wide association studies, as well as the association between consanguinity and CL±P and CP.

Methods: DNA was extracted from saliva specimens from 171 triads consisting of affected individuals and their parents, as well as 189 control triads (matched for age, gender, and location) that were recruited from 11 referral hospitals in Saudi Arabia. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0207DOI Listing
January 2019
3 Reads

A Role for Storytelling in Improving Consumer Understanding of Genetic Testing.

Genet Test Mol Biomarkers 2019 Jan 28;23(1):1-2. Epub 2018 Dec 28.

Genetic Alliance , Washington, District of Columbia.

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http://dx.doi.org/10.1089/gtmb.2018.29041.sjtDOI Listing
January 2019
1 Read

Carrying the T Allele of the SNP rs574344, an eQTL of GSTM1, Contributes to Longevity in the Han Chinese Population.

Genet Test Mol Biomarkers 2019 Jan 27;23(1):12-15. Epub 2018 Dec 27.

3 Department of Medical Genetics, Center for Genetics, National Research Institute of Family Planning , Beijing, China .

Background: There has been recent recognition that the GSTM1 gene is associated with successful aging and longevity. It has been hypothesized that individuals with a GSTM1 deletion are at a greater risk for developing a plethora of diseases. This study was carried out to investigate the association between the rs574344 single nucleotide polymorphism, an expression quantitative trait locus of GSTM1, and longevity in the Han Chinese population. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0178DOI Listing
January 2019
2 Reads

A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China.

Genet Test Mol Biomarkers 2019 Jan 27;23(1):51-56. Epub 2018 Dec 27.

1 Key Clinical Laboratory of Henan Province, Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .

Background: Hearing impairment is one of the most common neurosensory disorders afflicting humans. Approximately half of all cases have a genetic etiology. The distribution and frequency of genetic mutations that cause deafness differ significantly by ethnic group and geographic region. Read More

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0146
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http://dx.doi.org/10.1089/gtmb.2018.0146DOI Listing
January 2019
11 Reads