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OBJECTIVE: Endometrial receptivity plays a key role in pregnancy success in assisted reproduction cycles. Recent evidence suggests that seminal plasma (SP) and follicular fluid (FF) influence the uterine endometrium to improve implantation of the embryo and the establishment of pregnancy. In this study, we attempt to assess the influence of FF and SP on the expression levels of main endometrial receptivity genes (HOXA10, HOXA11, ITGAV, ITGB3 and LIF) in endometrial stromal cells. MATERIALS AND METHODS: In this experimental study, SP and FF were collected from 15 healthy fertile men and 15 healthy fertile women, respectively. Tissue specimens of the endometrium were obtained from 12 women undergoing hysterectomy for benign conditions. After endometrial stromal cell isolation and culture, dose- and time-dependent cytotoxic effects of pooled FF and SP on 3D-cultured endometrial cells were evaluated. A second independent set of 12 endometrium samples was treated under determined optimum conditions and evaluated for gene expression analysis using quantitative real-time polymerase chain reaction (qRT-PCR). RESULTS: The results of this study indicated that exposure of endometrial stromal cells to FF resulted in the elevated expression of HOXA10 (fold change=2.6, P=0.02), HOXA11 (fold change=3.3, P=0.002), LIF (fold change=4.6, P=0.0003), ITGB3 (fold change=3.5, P=0.012), and ITGAV (fold change=2.8, P=0.001) compared to untreated cells. In addition, we found that SP-treated endometrial cells showed increased mRNA levels of only the LIF gene (fold change=2.5, P=0.008) compared to untreated cells. CONCLUSION: Human SP and FF may modulate the endometrial receptivity and improve the implantation rate in assisted reproduction cycles through the up-regulation of endometrial receptivity genes.
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OBJECTIVE: The X-linked ZMYM3 gene (also known as ZNF261) contains the longest STR, (GA)32, identified in a human protein-coding gene 5'UTR (ENST00000373998.5: ZMYM3-207). This STR reaches maximum length in human, and is located in a complex string of four consecutive GA-STRs with a human-specific formula across the complex. A previous study in Iranian male schizophrenia (SCZ) patients revealed co-occurrence of the extreme short and long alleles of the STR with SCZ. Here we studied the allelic distribution of this STR in bipolar disorder (BD) type I. The interval encompassing the human ZMYM3 STR complex was PCR-amplified and sequenced in 546 male subjects, consisting of 157 BD patients and 389 controls. RESULTS: We found three alleles at the extreme short (17-repeat) and long (38- and 43-repeat) ends of the allele distribution curve in the BD cases (4.4% of the BD alleles) that were not detected in the controls (Mid p < 0.0001). These alleles overlapped with the extreme disease-only alleles detected previously in the SCZ patients. Domain reconstruction of the GA-STR complex revealed significant structural alteration as a result of various sequence repeats and nucleotide compositions at the inter and intraspecies levels. CONCLUSION: The ZMYM3 "exceptionally long" 5' UTR STR findings may alter our perspective of disease pathogenesis in psychiatric disorders, and set an example in which the low frequency alleles at the extreme short and long ends of the human STRs are, at least in part, a result of natural selection against these alleles and their unambiguous link to major human disorders.
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Regiones no Traducidas 5'/genética , Trastorno Bipolar/genética , Repeticiones de Microsatélite/genética , Proteínas Nucleares/genética , Adulto , Alelos , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Reacción en Cadena de la PolimerasaRESUMEN
AIM: Cancer-testis antigens (CTAs) have specific expression in gametogenic tissues and aberrant expression in cancers. Materials & methods: We assessed expression of five testis-specific genes namely KIF2B, CST8, TMEM225, RBM46, OAZ3 in bladder cancer tissues, adjacent non-neoplastic tissues and urinary cell pellets (UCPs) of bladder cancer patients compared with nonmalignant conditions. RESULTS: Expressions of all CTAs were higher in UCPs of bladder cancer patients compared with nonmalignant conditions. RBM46 expression in UCPs was higher in patients with recurrent tumors compared with primary tumors and in patients without hematuria compared with those having hematuria. TMEM225 expression in tumoral tissues was higher in high-grade tumors compared with low-grade tumors. CONCLUSION: Expression analysis of CTAs in UCP might provide diagnostic information about bladder cancer.
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Antígenos de Neoplasias/genética , Neoplasias de la Vejiga Urinaria/genética , Anciano , Biomarcadores de Tumor/genética , Proteínas Portadoras/genética , Cistatinas/genética , Regulación Neoplásica de la Expresión Génica/genética , Humanos , Péptidos y Proteínas de Señalización Intracelular , Cinesinas/genética , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Recurrencia Local de Neoplasia/genética , Proteínas de Unión al ARN/genética , Testículo , Transcriptoma/genéticaRESUMEN
Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.
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Tamización de Portadores Genéticos/métodos , Hemofilia A/genética , Heterocigoto , Polimorfismo de Longitud del Fragmento de Restricción , Desoxirribonucleasas de Localización Especificada Tipo II/química , Femenino , Hemofilia A/etnología , Humanos , Irán/etnología , MasculinoRESUMEN
INTRODUCTION: Production of complex human recombinant proteins is an important issue in medical biotechnology. These proteins are mostly expressed in non-human mammalian host cells. This has some problems including non-human post-translational modifications, application of high-cost agents for inducing protein expression and low yields. Thus, it is necessary to use new expression systems to overcome the indicated challenges. METHODS: In this paper, we hypothesize the application of promoter regions of cancer genes, which have a high rate of transcription in human cancer cell lines, for designing new expression vectors. RESULTS: After designing, these vectors could be applied to produce complex hu-man recombinant proteins in the human cancer cell lines as production hosts. CONCLUSION: Application of these expression vectors for the production of recombinant human proteins in the human cancer cell lines have some advantages including authentic post-translational modifications, proper-cost of commercialization, and high yields.