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Azita Zadeh-Vakili Fahimeh Ramezani Tehrani Maryam Sadat Daneshpour Maryam Zarkesh Navid Saadat Fereidoun Azizi 《Gene》2013
Aims
Polycystic ovary syndrome (PCOS), a common female endocrine disorder, represents a wide range of clinical manifestations and disease severity. Recent studies suggest an association between gene variants involved in vitamin D metabolism and common metabolic disturbances in PCOS. We aimed to examine the association of vitamin D receptor (VDR) gene variant with PCOS susceptibility and the severity of disease phenotype.Methods
All participants, including 260 PCOS women (cases) and 221 normoovulatory women (controls), were recruited from a reproductive endocrinology clinic. Cases were divided into the severe and mild PCOS phenotype groups, based on their clinical and paraclinical features. An adenosine to guanine single nucleotide polymorphism of VDR gene (rs757343) was genotyped using the PCR–RFLP method.Results
Distributions of genotypes and alleles did not differ between cases and controls, indicating that this SNP is not associated with increased risk for PCOS. However, this SNP was found to be associated with the severity of the PCOS phenotype. In particular, presence of the A allele is associated with a 74% increased risk of severe phenotype development (OR, 1.74; 95% CI, 1.07–2.82).Conclusion
The genetic variant of the VDR was found to have an association with severity of clinical features of PCOS, but none with disease risk. 相似文献93.
Parry DA Logan CV Hayward BE Shires M Landolsi H Diggle C Carr I Rittore C Touitou I Philibert L Fisher RA Fallahian M Huntriss JD Picton HM Malik S Taylor GR Johnson CA Bonthron DT Sheridan EG 《American journal of human genetics》2011,89(3):451-458
Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeated pregnancy loss because of the development of the conceptus into a complete hydatidiform mole in which extraembryonic trophoblastic tissue develops but the embryo itself suffers early demise. This developmental phenotype results from a genome-wide failure to correctly specify or maintain a maternal epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. 相似文献
94.
Aghajani Mohammad Hajijafari Mohammad Akbari Hossein Asgarian Fatemeh Sadat 《Sleep and biological rhythms》2020,18(3):209-215
Sleep and Biological Rhythms - The purpose of this study was to assess the validity and reliability of the Persian version of the Cleveland Adolescent Sleepiness Questionnaire (CASQ) in Iranian... 相似文献
95.
Ghodrati Atefe Firoozpour Loghman Balalaie Saeed Hosseini Faezeh Sadat Ramezanpour Sorour Edraki Najme Mohtavinejad Naser Amanlou Massoud 《International journal of peptide research and therapeutics》2020,26(4):2169-2177
International Journal of Peptide Research and Therapeutics - β-secretase 1 (BACE1) plays a pivotal role in the pathology of Alzheimer?s disease via accumulation beta amyloid in the... 相似文献
96.
Babasafari Mahdieh Kourosharami Masoumeh Behman Jamie Farhadi Mona Komaki Alireza 《International journal of peptide research and therapeutics》2020,26(3):1485-1491
International Journal of Peptide Research and Therapeutics - Orexin-A well-known as hypocretin-1 is a neuropeptide that is produced in the lateral hypothalamus area (LHA). It promotes widespread... 相似文献
97.
Soltani Narges Nazarian-Firouzabadi Farhad Shafeinia Alireza Sadr Ayeh Sadat Shirali Masoud 《Molecular biology reports》2020,47(9):7009-7016
Molecular Biology Reports - Vinblastine and vincristine are two important anti-cancer drugs that are synthesized by the Terpenoid Indole Alkaloids (TIAs) pathway in periwinkle (Catharanthus... 相似文献
98.
Hamdan LJ Gillevet PM Pohlman JW Sikaroodi M Greinert J Coffin RB 《FEMS microbiology ecology》2011,77(3):518-532
Sediments from the Porangahau ridge, located off the northeastern coast of New Zealand, were studied to describe bacterial community structure in conjunction with differing biogeochemical regimes across the ridge. Low diversity was observed in sediments from an eroded basin seaward of the ridge and the community was dominated by uncultured members of the Burkholderiales. Chloroflexi/GNS and Deltaproteobacteria were abundant in sediments from a methane seep located landward of the ridge. Gas-charged and organic-rich sediments further landward had the highest overall diversity. Surface sediments, with the exception of those from the basin, were dominated by Rhodobacterales sequences associated with organic matter deposition. Taxa related to the Desulfosarcina/Desulfococcus and the JS1 candidates were highly abundant at the sulfate-methane transition zone (SMTZ) at three sites. To determine how community structure was influenced by terrestrial, pelagic and in situ substrates, sequence data were statistically analyzed against geochemical data (e.g. sulfate, chloride, nitrogen, phosphorous, methane, bulk inorganic and organic carbon pools) using the Biota-Environmental matching procedure. Landward of the ridge, sulfate was among the most significant structuring factors. Seaward of the ridge, silica and ammonium were important structuring factors. Regardless of the transect location, methane was the principal structuring factor on SMTZ communities. 相似文献
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Saeed Mohammadi Fakhri Sadat Seyedhosseini Nasser Behnampour 《Journal of receptor and signal transduction research》2017,37(5):506-514
Objectives: The role of aryl hydrocarbon receptor (AhR) in carcinogenesis has been studied recently. Indole-3-carbinol (I3C) is an AhR agonist and a potential anticancer agent. Here, we investigated the effects of I3C on cell cycle progression and apoptosis through activation of AhR on THP-1 acute myeloid leukemia (AML) cell line.Methods: MTT viability assay was used to measure the cytotoxic effects of I3C on THP-1 cells. Apoptosis and cell cycle assays were investigated using flow cytometry. Real time RT-PCR was conducted to measure the alterations in the expression of AhR gene, key genes associated with AhR activation (IL1β and CYP1A1) and major genes involved in cell cycle regulation and apoptosis including P27, P21, CDK2, P53, BCL2 and FasR.Results: Our findings revealed that I3C inhibits the proliferation of THP-1 cells in a dose- and time-dependent manner with minimal toxicity over normal monocytes. The AhR target genes (CYP1A1, IL1β) were overexpressed upon I3C treatment (p?.05 to p?.001). The antiproliferative effects of I3C were in association with programed cell death. I3C downregulated BCL2 and upregulated FasR in THP-1 cells (p?.05 to p?.001). G1 cell cycle arrest was also observed using flow cytometry. G1-acting cell cycle genes (P21, P27 and P53) were overexpressed (p?.05 to p?.001), while CDK2 was downregulated upon I3C treatment (p?.01 to p?.001).Conclusions: I3C could exert its antileukemic effects through AhR activation which is associated with programed cell death and G1 cell cycle arrest in a dose- and time-dependent manner. Therefore, AhR could be targeted as a novel treatment possibility in AML. 相似文献