1,535 results match your criteria Genetic testing and molecular biomarkers[Journal]


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 Feb 15. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0221DOI Listing
February 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 Feb 13. 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: This present study evaluated the dihydrofolate reductase (DHFR) gene-829C-T polymorphism, plasma DHFR concentrations, and miRNA-24 sequence in association 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0226DOI Listing
February 2019
1 Read

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

Genet Test Mol Biomarkers 2019 Feb 13. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0298DOI Listing
February 2019

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 Feb 13. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0264DOI Listing
February 2019
8 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

View Article

Download full-text PDF

Source
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 Feb;23(2):73-74

1 Genetic Alliance, Washington, District of Columbia.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0209DOI Listing
February 2019
2 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0253DOI Listing
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

View Article

Download full-text PDF

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

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

Genet Test Mol Biomarkers 2019 Jan 24. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0193DOI Listing
January 2019
1 Read

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

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0153
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0153DOI Listing
February 2019
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0150DOI Listing
February 2019
2 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0131DOI Listing
January 2019
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0207DOI Listing
January 2019
1 Read

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.

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0178DOI Listing
January 2019
1 Read

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

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0146
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0146DOI Listing
January 2019
5 Reads

Effects of a Polymorphism in the Promoter Region of the Follicle-Stimulating Hormone Subunit Beta (FSHB) Gene on Female Reproductive Outcomes.

Genet Test Mol Biomarkers 2019 Jan 26;23(1):39-44. Epub 2018 Dec 26.

Human Reproduction and Genetics, Department of Collective Health, Faculdade de Medicina do ABC , Santo André/SP, Brazil .

Background: Follicle-stimulating hormone (FSH) is essential to the hypothalamic-pituitary-gonadal axis, playing a key role in human reproduction. It is a heterodimer comprised of a hormone-specific β-chain (FSH-β) that is associated with an α-chain. It exerts its biological activities by binding to the FSH receptor (FSHR). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0182DOI Listing
January 2019
1 Read

Genetic Predisposition to Unexplained Recurrent Pregnancy Loss: Killer Cell Immunoglobulin-Like Receptor Gene Polymorphisms as Potential Biomarkers.

Genet Test Mol Biomarkers 2019 Jan 26;23(1):57-65. Epub 2018 Dec 26.

1 Department of Medical Biology and Genetics, Faculty of Medicine, Mersin University , Mersin, Turkey .

Aim: The aim of this study was to investigate the association between killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and unexplained recurrent pregnancy loss (URPL).

Materials And Methods: This study included 70 URPL patients with a history of two or more miscarriages and 70 healthy multiparous women as a control group. KIR genotyping was performed in all subjects for the KIRs 2DL1-4 and 2DS1-5 genes using polymerase chain reaction with sequence-specific primers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0082DOI Listing
January 2019
2 Reads

Association of High Mobility Group Box Protein B1 Gene Polymorphisms with Pneumonia Susceptibility and Severity.

Genet Test Mol Biomarkers 2019 Jan 18;23(1):3-11. Epub 2018 Dec 18.

2 Department of Intensive Care Unit, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China.

Objective: To investigate the relationship between the high mobility group box protein B1 (HMGB1) single nucleotide polymorphisms (SNPs) rs1412125, rs2249825, and rs1045411 with pneumonia in terms of susceptibility, severity, and inflammatory response.

Methods: The genotypes of HMGB1 rs1412125 (-1615T > C), rs2249825 (3814C > G), and rs1045411 (2262C > T) loci in 328 patients with community-acquired pneumonia (CAP) and 317 healthy subjects were analyzed by Sanger sequencing. The expression and secretion of the inflammatory cytokines HMGB1, interleukin (IL)-10, tumor necrosis factor-alpha (TNF-α), and IL-6 were determined after lipopolysaccharide (LPS) stimulation of peripheral whole blood cells. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0174DOI Listing
January 2019
1 Read

Bioinformatic Analysis Reveals Novel Immune-Associated Hub Genes in Human Membranous Nephropathy.

Genet Test Mol Biomarkers 2019 Jan 8;23(1):23-31. Epub 2018 Dec 8.

Department of Nephrology, West China Hospital, Sichuan University , Chengdu, China .

Background: Membranous nephropathy (MN) is one of the most common pathologies of the nephrotic syndrome. MN is closely associated with the autoimmune response but its molecular mechanism remains unclear. Bioinformatic network analysis can be used to identify disease-related hub genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0137DOI Listing
January 2019
1 Read

Arginase-1 Variants and the Risk of Familial Coronary Artery Disease in Subjects Originating from Pakistan.

Genet Test Mol Biomarkers 2019 Jan 8;23(1):32-38. Epub 2018 Dec 8.

1 Department of Biosciences, COMSATS University Islamabad , Islamabad, Pakistan .

Background: Genetic polymorphisms in the human arginase-1 (ARG1) gene locus and their effects on cardiovascular disease have not been thoroughly elucidated. The aim of the present study was to investigate the association of the variant ARG1 alleles rs2781666 and rs2781667 with coronary artery disease (CAD).

Methods: ARG1 rs2781666G/T and rs2781667C/T polymorphisms were characterized in a case-control study consisting of 200 complex Pakistani families with CAD history. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0227DOI Listing
January 2019

Cartilage Oligomeric Matrix Protein Levels in Type 2 Diabetes Associated with Primary Knee Osteoarthritis Patients.

Genet Test Mol Biomarkers 2019 Jan 8;23(1):16-22. Epub 2018 Dec 8.

1 Facultad de Medicina Torreon, Universidad Autonoma de Coahuila , Torreon, Mexico .

Aims: (1) To evaluate the association between type 2 diabetes mellitus (T2D) and primary knee osteoarthritis (KOA); and (2) to compare synovial fluid (SF) cartilage oligomeric matrix protein (COMP) concentrations and glycemic control parameters in patients with T2D, with and without primary KOA.

Methods: A total of 231 individuals were included in this study. Primary KOA was confirmed according to the criteria established by the American College of Rheumatology. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0184DOI Listing
January 2019
1 Read

Expression of Survivin and Its Splice Variants in Pediatric Acute Lymphoblastic Leukemia.

Genet Test Mol Biomarkers 2018 Nov 29. Epub 2018 Nov 29.

6 Duzen Laboratories Group , Division of Medical Genetics, Ankara, Turkey .

Aims: Survivin is involved in the inhibition of apoptosis and the regulation of cell division. In addition to wild-type survivin (survivin-wt), at least four splice variants with differential functions (ΔEx3 and 3B antiapoptotic, and 2α and 2B proapoptotic) have been identified. Survivin is highly expressed in several cancers, including hematological malignancies. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0152
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0152DOI Listing
November 2018
4 Reads

Development of a Simple and Cost-Effective Method Based on T7 Endonuclease Cleavage for Detection of Single Nucleotide Polymorphisms.

Genet Test Mol Biomarkers 2018 Dec 28;22(12):719-723. Epub 2018 Nov 28.

1 Department of Microbiology, Fourth Military Medical University, Xi'an, China.

Aims: Single nucleotide polymorphisms (SNP) can be used as genetic markers and for risk assessment of allele-linked diseases, which can provide information for clinical diagnosis. Large-scale microarray and next-generation sequencing methods have made genome-wide SNP genotyping possible. However, in addition to their high cost, these techniques are dependent on having specialized equipment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0181DOI Listing
December 2018

miR-146a rs2910164 Polymorphism and Risk of Papillary Thyroid Carcinoma: A Meta-Analysis.

Genet Test Mol Biomarkers 2018 Nov 28. Epub 2018 Nov 28.

1 Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University , Nanjing, China .

Aims: The presence of single nucleotide polymorphisms contributes to genetic diversity, and some are associated with cancer progression. Recent studies concerning the relationship between polymorphisms in miR-146a and the risk of papillary thyroid carcinoma (PTC) have produced conflicting results. Here, a meta-analysis of previous studies was performed to evaluate this relationship. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0038DOI Listing
November 2018

miR-21 Contributes to Human Amniotic Membrane-Derived Mesenchymal Stem Cell Growth and Human Amniotic Membrane-Derived Mesenchymal Stem Cell-Induced Immunoregulation.

Genet Test Mol Biomarkers 2018 Dec 27;22(12):665-673. Epub 2018 Nov 27.

1 Department of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, PR China.

Background: Human amniotic membrane-derived mesenchymal stem cells (hAM-MSCs) are considered a new and favorable source of stem cells for cell replacement-based therapy. Some microRNAs (miRNAs) have been reported to participate in the regulation of immune responses. Our aim was to investigate the effects of miR-21 on the biological characteristics, immunoregulatory properties, and potential mechanisms of hAM-MSCs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0116DOI Listing
December 2018
2 Reads

Screening of AIP Gene Variations in a Cohort of Turkish Patients with Young-Onset Sporadic Hormone-Secreting Pituitary Adenomas.

Genet Test Mol Biomarkers 2018 Nov 21. Epub 2018 Nov 21.

2 Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University , Istanbul, Turkey .

Aims: Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations have long been associated with apparently sporadic pituitary adenomas (PAs) with a prevalence range of 0-12%. The aim of this study was to evaluate the frequency of germline AIP variations in a large cohort of apparently sporadic PAs diagnosed before the age of 40 years, who did not exhibit hypercalcemia and/or MEN1 syndrome components during long-term follow-up.

Materials And Methods: A total of 97 patients, diagnosed with functional PAs ≤40 years old, composed of somatotropinoma (n = 55), prolactinoma (n = 25), and corticotrophinoma (n = 17), were recruited for this study. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0133DOI Listing
November 2018
12 Reads

Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.

Genet Test Mol Biomarkers 2018 Nov 21. Epub 2018 Nov 21.

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University , Islamabad, Pakistan .

Background: Escobar syndrome, a nonlethal variant of multiple pterygium syndromes (MPS), is a rare autosomal recessive disorder characterized by pterygia and multiple joint contractures along with other anomalies. Variants in cholinergic receptor nicotinic gamma subunit (CHRNG) have been previously reported in patients with Escobar syndrome.

Objective: We studied a consanguineous Pakistani family affected with Escobar syndrome to identify the underlying genetic defect through short tandem repeat (STR) genotyping and direct DNA sequencing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0122DOI Listing
November 2018
10 Reads

Relationship of WNT4 Gene with the Risk of Epithelial Ovarian Cancer: A Han Chinese Population-Based Association Study.

Genet Test Mol Biomarkers 2018 Dec 17;22(12):686-692. Epub 2018 Nov 17.

5 Department of Trauma, Honghui Hospital, Xi'an Jiaotong University Health Science Center, Xi'an, China.

Objective: In China, epithelial ovarian cancer (EOC) patients account for the majority of ovarian cancer patients. The pathogenesis of EOC, one of the most lethal gynecological malignancies, remains unclear. Recently, the role of WNT4 in gynecological disease and tumor development was reported, and a suspicious association of WNT4 with EOC was identified in Europeans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0157DOI Listing
December 2018
1 Read

Long Noncoding RNA MRPL39 Inhibits Gastric Cancer Proliferation and Progression by Directly Targeting miR-130.

Genet Test Mol Biomarkers 2018 Nov;22(11):656-663

Department of Surgery, Hangzhou Third Hospital , Hangzhou, China .

Background: Gastric cancer (GC) is one of the most prevalent malignant tumors displaying both high incidence and mortality throughout much of the world. Recently, long noncoding RNAs (lncRNAs) have been implicated in the development and progression of GC.

Materials And Methods: In the present study, we investigated the biological function and molecular mechanisms of lncRNA MRPL39 in GC. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0151
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0151DOI Listing
November 2018
9 Reads

CRISPR-Cas9: New Heights, New Hesitations.

Genet Test Mol Biomarkers 2018 Nov 15;22(11):635-636. Epub 2018 Nov 15.

2 Genetic Alliance , Washington, District of Columbia.

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0267
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0267DOI Listing
November 2018
6 Reads

Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.

Genet Test Mol Biomarkers 2018 Nov 21. Epub 2018 Nov 21.

1 Department of Dermatology and The Second Affiliated Hospital of Xi'an Jiaotong University , Xi'an, People's Republic of China .

Aims: To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK).

Methods: We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100 randomly selected healthy controls. Biopsy samples were obtained from the proband. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0154
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0154DOI Listing
November 2018
9 Reads

Associations Between IL-10 Polymorphisms and Susceptibility to Melanoma, Basal Cell Carcinoma, and Squamous Cell Carcinoma: A Meta-Analysis.

Genet Test Mol Biomarkers 2018 Nov 14. Epub 2018 Nov 14.

1 Department of Dermatology, China-Japan Union Hospital of Jilin University , Changchun, Jilin, P.R. China .

Background: According to relevant reports, interleukin-10 (IL-10), as a multifunctional anti-inflammatory cytokine, has a critical influence in cancer development. A meta-analysis was carried out regarding the relationships among the -592 A/C, -1082 G/A, and -819 T/C polymorphisms as well as the susceptibility to skin squamous cell carcinoma (sSCC), melanoma, and basal cell carcinoma (BCC).

Materials And Methods: A meta-analysis was carried out on the inter-relationships among the -592 A/C, IL-10-1082 G/A, and -819 T/C polymorphisms as well as the susceptibility to sSCC, melanoma, and BCC. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0172
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0172DOI Listing
November 2018
9 Reads

Polymorphisms in the Uncoupling Protein 2 Gene Are Associated with Diabetic Retinopathy in Han Chinese Patients with Type 2 Diabetes.

Genet Test Mol Biomarkers 2018 Nov 25;22(11):637-643. Epub 2018 Oct 25.

1 Central Laboratory, Department of Endocrinology, Second People's Hospital of Yunnan Province , Kunming, China .

Background: The uncoupling protein 2 (UCP2) gene plays an important role in the complications of type 2 diabetes (T2D). However, the association between variants in the UCP2 gene and diabetic retinopathy (DR) in Han Chinese T2D patients remains unclear.

Methods: Two single-nucleotide polymorphisms (SNPs) [rs659366 (-866G/A) and a 45-bp insertion/deletion (I/D) in the 3'-UTR] in the UCP2 gene were genotyped in a study cohort of 209 T2D patients with DR and 199 T2D patients without DR by direct DNA sequencing. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0115
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0115DOI Listing
November 2018
18 Reads

Report of Confirmation of the rs7853758 and rs885004 Haplotype in SLC28A3.

Genet Test Mol Biomarkers 2018 Nov 23;22(11):652-655. Epub 2018 Oct 23.

1 Department of Medical and Molecular Genetics and Indiana University School of Medicine , Indianapolis, Indiana.

Aims: To validate a laboratory-developed test for the nucleoside transporter, SLC28A3, which has been associated with an increased risk of anthracycline-induced cardiomyopathy.

Methods: We used Taqman allele discrimination to test for two variants of the SLC28A3 gene: rs7853758 (c.1381C>T) and rs885004 (c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249667PMC
November 2018
1 Read

The Genetic Determination of the Differentiation Between Ischemic Dilated Cardiomyopathy and Idiopathic Dilated Cardiomyopathy.

Genet Test Mol Biomarkers 2018 Nov 26;22(11):644-651. Epub 2018 Oct 26.

2 Department of Cardiology, Faculty of Medicine, Afyon Kocatepe University , Afyonkarahisar, Turkey .

Aims: Most dilated cardiomyopathies are either an ischemic dilated cardiomyopathy (IsDC) or an idiopathic dilated cardiomyopathy (IdDC). The treatments for both IsDC and IdDC are of a similar nature (upwards of 90%). Coronary revascularization, however, is only feasible for IsDC. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0188
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0188DOI Listing
November 2018
6 Reads

To Test or Not to Test?

Authors:
Sharon F Terry

Genet Test Mol Biomarkers 2018 Oct;22(10):583-584

Genetic Alliance , Washington, District of Columbia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0254DOI Listing
October 2018
5 Reads

Evaluation of Common Variants in Matrix Metalloproteinase-9 Gene with Lumbar Disc Herniation in Han Chinese Population.

Genet Test Mol Biomarkers 2018 Oct 5;22(10):622-629. Epub 2018 Oct 5.

3 Department of Joint Surgery, Yan'an People's Hospital , Yan'an, China .

Objective: Lumbar disc herniation (LDH) is a common and frequent orthopedic disease with strong genetic determinants. The disruption of the intervertebral disc extracellular matrix has been found to play a key role in the development of LDH, suggesting that abnormal matrix metalloproteinases (MMPs) may promote the degradation of the disc matrix. MMP-9, an important member of the MMP family, is a good candidate for the LDH susceptibility gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0080DOI Listing
October 2018
3 Reads

A Case-Control Study on Association of Ulcerative Colitis with FCGR2A Gene Polymorphisms in Chinese Patients.

Genet Test Mol Biomarkers 2018 Oct 27;22(10):607-614. Epub 2018 Sep 27.

Department of Gastroenterology, The Second Affiliated Hospital of Wenzhou Medical University , Wenzhou, China .

Background And Aims: The Fc gamma receptor IIa (FcγRIIa), encoded by FCGR2A gene, has been suggested to play a crucial role in immunity by linking immunoglobulin G antibody-mediated responses with cellular effector and regulatory functions. Polymorphisms in FCGR2A have been shown to affect FcγRIIa/antibody interactions and have been potentially implicated in several autoimmune and inflammatory conditions. This study was designed to analyze the association between ulcerative colitis (UC) and FCGR2A polymorphisms in the Chinese population. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0042DOI Listing
October 2018
2 Reads

Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

Genet Test Mol Biomarkers 2018 Oct 25;22(10):599-606. Epub 2018 Sep 25.

1 Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University , Qingdao, P.R. China .

Aim: To analyze the variants of the potential causative genes in five Chinese patients with primary distal renal tubular acidosis (dRTA) from five unrelated families, and to explore their possible genotype-phenotype correlations, so as to raise the awareness of the disease.

Methods: Variants were identified by next generation sequencing. Clinical features and biochemical findings at the first presentation, as well as at follow-up visits were also investigated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0057DOI Listing
October 2018
16 Reads

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.

Genet Test Mol Biomarkers 2018 Sep;22(9):541-545

1 Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University , Islamabad, Pakistan .

Background: Mucolipidosis III gamma (MLIIIγ) is a rare autosomal recessive disorder characterized by radiographic evidence of mild-to-moderate dysostosis multiplex, progressive joint stiffness and pain, scoliosis, and normal to mildly impaired cognitive development. Cardiac valve involvement and respiratory complications can be significant. MLIIIγ is caused by mutations in the GNPTG, which encodes the γ subunit of the enzyme N-acetylglucosamine-1-phosphotransferase. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0123DOI Listing
September 2018
9 Reads

Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly.

Genet Test Mol Biomarkers 2018 Sep;22(9):577-581

1 Department of Center for Scientific Research, Dongguan Children's Hospital , Dongguan, Guangdong, China .

Background: Polydactyly is one of the most common congenital limb abnormalities. Our objective was to identify the genetic causes of non-syndromic polydactyly in 78 Chinese children.

Materials And Methods: Genomic DNA was isolated from 78 independent nonsyndromic polydactyly patients, of whom 71 had preaxial polydactyly (PPD), six had postaxial polydactyly (PAP), and one showed combined PPD1 and PAP-A/B. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0096DOI Listing
September 2018

Newborn Screening and Health Communications.

Genet Test Mol Biomarkers 2018 Sep;22(9):507-508

Genetic Alliance , Washington, District of Columbia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0234DOI Listing
September 2018

Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Genet Test Mol Biomarkers 2018 Oct 20;22(10):585-592. Epub 2018 Sep 20.

Department of Ophthalmology, The First Affiliated Hospital, School of Medicine, Zhejiang University , Hangzhou, China .

Background: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES.

Materials And Methods: DNA was extracted from the peripheral blood of 26 persons from two different Chinese BPES families (13 of which were affected), as well as 200 cataract patients to act as normal controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0064DOI Listing
October 2018

Evaluation of Association of Vitamin D Receptor Genetic Polymorphism with Severe Chronic Periodontitis in an Ethnic Tamilian Population.

Genet Test Mol Biomarkers 2018 Oct 20;22(10):615-621. Epub 2018 Sep 20.

2 Department of Periodontology, SRM Dental College , Chennai, India .

Background: Periodontitis is a multifactorial disease characterized by inflammatory responses to increased levels of subgingival pathogens, resulting in connective tissue destruction and alveolar bone loss. The susceptibility of an individual is determined by the complex interplay of the host, genetic, and environmental factors. Vitamin D, a secosteroid hormone, interacts with its nuclear receptor vitamin D receptor (VDR) to regulate crucial biological processes, such as bone metabolism and immune function modulation. Read More

View Article

Download full-text PDF

Source
https://www.liebertpub.com/doi/10.1089/gtmb.2018.0190
Publisher Site
http://dx.doi.org/10.1089/gtmb.2018.0190DOI Listing
October 2018
3 Reads

Expression Analysis of PVT1, CCDC26, and CCAT1 Long Noncoding RNAs in Acute Myeloid Leukemia Patients.

Genet Test Mol Biomarkers 2018 Oct 14;22(10):593-598. Epub 2018 Sep 14.

1 Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences , Tehran, Iran .

Background: Recent evidence indicates that the PVT1, CCDC26, and CCAT1 long noncoding RNAs (lncRNAs) are involved in the leukemogenic process. This study quantified the expression levels of the PVT1, CCDC26, and CCAT1 lncRNAs in patients with acute myeloid leukemia (AML) and also correlated their expression levels with the clinicopathological features of the patients.

Materials And Methods: The expression levels of the PVT1, CCDC26, and CCAT1 lncRNAs were analyzed using quantitative reverse transcription-polymerase chain reaction of bone marrow specimens obtained from 86 AML patients, 48 AML-M3 patients, and 40 normal controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2018.0143DOI Listing
October 2018
2 Reads