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- 1From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedThe vascular endothelial growth factor (VEGF) is an endothelial cell-specific mitogen involved in the process of angiogenesis, a crucial phase in tumor growth and metastasis. We carried out a case-control study to...
- 2From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedThe minisequencing method is a cost-effective tool to study single-nucleotide polymorphisms in human disease. For this reason, a novel polymerase chain reaction multiplex SNaPshot reaction has been developed that...
- 3From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedBackground: In recent years, numerous studies have focused their attention on genes that are part of the insulin/ insulin-like growth factor 1 signaling pathway, such as the insulin receptor (INSR) and the insulin...
- 4From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedONE OF THE MANY TECHNOLOGICAL ADVANCES made possible by the Human Genome Project is the development of robust genomic tests that evaluate multiple genetic variants or gene expression patterns. The progress from...
- 5From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedAim: Our study aimed to quantitatively explore the perceptions of individuals with cystic fibrosis (CF) and their family members toward population prenatal and preconception CF carrier screening, including perceived...
- 6From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedMyotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common autosomal dominant neuromuscular disorders in adults. DM1 is caused by an unstable expansion of the (CTG)n repeat tract in the DMPK gene, whereas DM2...
- 7From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedAmplification and/or overexpression of HER-2/neu has been reported to be associated with poor prognosis in breast cancer. One single-nucleotide polymorphism at codon 655 indicates a guanine-to-adenine substitution...
- 8From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedObjective: The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive...
- 9From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedAim: Aurora-A is a serine/threonine protein kinase that functions in centrosome maturation and spindle assembly and is involved in regulating chromosome segregation. It is amplified and overexpressed in several human...
- 10From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedMeningitis is an inflammation of the protective membranes covering the brain and spinal cord caused by bacteria, fungi, or viruses with various clinical symptoms. Although meningitis is not so prevalent, it remains the...
- 11From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly caused by a defect in the steroid 21-hydroxylase gene (CYP21A2). In this study, we investigated the molecular defects of 25 Chinese...
- 12From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedBackground: Endometriosis is a distressing gynecological disorder. Toll-like receptor 4 (TLR4) is specific for recognition of the molecular pattern of gram-negative bacteria. TLR4 is present on the surface of...
- 13From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedThe Y chromosome microsatellite markers have been extensively used for population genetic studies and in individual identification and paternity testing in forensic medicine. In the present study, we report the data of...
- 14From:Genetic Testing and Molecular Biomarkers (Vol. 15, Issue 3) Peer-ReviewedTay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to b-hexosaminidase A (HexA) a subunit deficiency. An unusual variant of Tay-Sachs disease...