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Background: 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 endometrial cells. Their role in the molecular pathogenesis of endometriosis is...
Congenital 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 pedigrees with 21-hydroxylase deficiency (21-OHD). Diagnosis of the...
Amplification 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 (Ile655Val) in the transmembrane domain–coding region of the HER-2/neu gene...
The 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 five male-specific, polymorphic microsatellites in 740 unrelated male...
The 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 targets 10 autosomal mutations in genes, or regions near to them, reported to be...
Myotonic 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 is caused by an unstable expansion of the (CCTG) n repeat tract in the ZNF9...
Meningitis 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 most serious contagious disease. The aim of our study was to investigate the...
Background: 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 receptor substrate 1 ( IRS1 ) genes. Aim: We aimed to examine the association of...
Aim: 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 cancers. The aim of the present study was to assess the role of T91A Aurora-A...
Aim: 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 benefits, concerns, and the acceptability of offering screening. Method: In...
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