Premature ovarian insufficiency (POI) is characterised by the loss or complete absence of ovarian activity in women under the age of 40. Clinical presentation of POI varies with phenotypic severity ranging from premature loss of menses to complete gonadal dysgenesis. POI is genetically heterogeneous with >100 causative gene variants identified thus far.
View Article and Find Full Text PDFResearch Question: Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects 1-3.7% women. Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements.
View Article and Find Full Text PDFInt J Mol Epidemiol Genet
April 2023
Introduction: miR-132-3p acts in normal breast development and its downregulation has been documented in breast cancer. One of the targets of miR-132-3p is which is also inactivated in breast cancer. The interactions between and miR-132 have been reported in several pathological conditions.
View Article and Find Full Text PDFBackground: K-Ras mutations rarely occur in breast cancer. However, studies have supported that K-Ras upregulation is involved in breast cancer pathogenesis. Two main K-Ras transcript variants; K-Ras4A and K-Ras4B, originate from the alternative splicing of exon 4.
View Article and Find Full Text PDFPrenatal diagnosis of hereditary diseases has substantially altered the way medical geneticists are helping families affected by genetic disorders. However, the risk of miscarriage and fear of invasive diagnostic procedures may discourage many couples from seeking prenatal diagnosis. With the discovery of maternal plasma cell-free fetal DNA, prenatal diagnosis has entered a new era of progress.
View Article and Find Full Text PDFBackground: Lack of knowledge around underlying mechanisms of gliomas mandates intense research efforts to improve the disease outcomes. Identification of high-grade gliomas pathogenesis which is known for poor prognosis and low survival is of particular importance. Distinguishing the differentially expressed genes is one of the core approaches to clarify the causative factors.
View Article and Find Full Text PDFBackground: Changes in sex hormones during menopause may have detrimental effects on a woman's sexual function and cause mood disorders. The treatment of both conditions is a challenge in gynecology.
Aim: To review the published literature on sexual function and mood disorders among peri- and postmenopausal women.
Background: Bone morphogenetic protein 15 (BMP15) is expressed in oocytes and plays a crucial role in the reproduction of mono-ovulating species. In humans, BMP15 gene mutations lead to imperfect protein function and premature ovarian insufficiency. Here we investigated the BMP15 gene variants in a population of Iranian women with premature ovarian insufficiency.
View Article and Find Full Text PDFThe aim of this study was to evaluate the effect of lysophosphatidic acid (LPA) supplementation during in vitro culture and transplantation of mouse ovaries on the follicular development and expression of vascular endothelial growth factor (VEGF) as an angiogenesis factor at the mRNA and protein levels. Three weeks old mice ovaries were cultured in the presence and absence of LPA for 24 hours, then they were capsulated in sodium alginate in the presence and absence of LPA as four experimental groups. After transplantation the vaginal smears were performed daily to evaluate the initiation of the estrous cycle.
View Article and Find Full Text PDFBackground: Several conflicting results have been reported on the survival and function of transplanted ovaries.
Objective: Evaluation of the follicular development and the expression of vascular endothelial growth factor (VEGF) and Bcl-2-associated X protein (BAX) in ovaries transplanted into uni- and bilaterally ovariectomized mice.
Materials And Methods: In this experimental study, 40 female NMRI mice (21-days-old, 12-15 gr) were ovariectomized uni- and bilaterally (n = 20/ group), while the 8-wk-old mice were considered as intact control group (n = 6).
Environ Sci Pollut Res Int
June 2021
Acetamiprid (ACE) is one of the widely used neonicotinoid insecticides. In mammals, in spite of the low-affinity nAChRs, neurotoxic effects following the Acetamiprid exposure have recently been reported, which suggests some concerns regarding the impacts on the nervous system of mammals. This study aims to investigate the effect of Acetamiprid on spatial memory and possible vulnerability of hippocampal glutamatergic system following the Acetamiprid exposure.
View Article and Find Full Text PDFRNA editing is a posttranscriptional nucleotide modification in humans. Of the various types of RNA editing, the adenosine to inosine substitution is the most widespread in higher eukaryotes, which is mediated by the ADAR family enzymes. Inosine is recognized by the biological machinery as guanosine; therefore, editing could have substantial functional effects throughout the genome.
View Article and Find Full Text PDFInvasive is a severe opportunistic infection with high mortality in immunocompromised patients. Recently, the roles of microRNAs have been taken into consideration in the immune system and inflammatory responses. Using bioinformatics approaches, we aimed to study the microRNAs related to invasive to understand the molecular pathways involved in the disease pathogenesis.
View Article and Find Full Text PDFJ Cancer Res Ther
November 2020
Objective: Paraoxonase 1 (PON1) plays a defensive role against oxidative stress by destroying oxidized lipids. Q192R single nucleotide polymorphism of PON1 gene alters the enzyme's activity. Several investigations reported a link between Q192R and an increased risk of developing tumors including uterine leiomyomas.
View Article and Find Full Text PDFBackground: The cell proliferative markers are very important in breast cancer. Since SPAG5 and NuMA proteins play a significant role in the mitosis regulatory network and cell division, we aimed to study their mRNA levels as well as SPAG5 gene amplification correlated to clinicopathological status in ductal carcinoma of the breast.
Methods: SPAG5 and NuMA gene expressions were investigated in 40 breast cancer tissues and normal adjacent tissues via real-time PCR.
Background: Graft choice in anterior cruciate ligament (ACL) reconstruction remains controversial and some grafts fail due to inadequate osteointegration. Demineralised cortical bone (DCB) is an osteoinductive collagen-based scaffold. The aim of this study was to measure the tensile properties of DCB from different locations and from different ages, and determine its compatibility with current ACL fixation systems.
View Article and Find Full Text PDFStandardization of noninvasive prenatal diagnosis (PND) method that can identify common mutations in the population is of great value. The purpose of this study was to find the paternal gene IVS-II-1 (G>A) (: c.315+1G>A) mutation in maternal plasma cell-free DNA using the co-amplification at lower denaturation temperature-polymerase chain reaction (COLD-PCR) method.
View Article and Find Full Text PDFBackground: Gastric cancer (GC) is a world health problem and it is the third leading cause of cancer deaths worldwide. The current practice for prognosis assessment in GC is based on radiological and pathological criteria and they may not result in an accurate prognosis. The aim of this study is to evaluate expression and copy number variation of the ADAR gene in advanced GC and clarify its correlation with survival and histopathological characteristics.
View Article and Find Full Text PDFEarly diagnosis of prostate cancer (PCa) as the second most common cancer in men is not associated with precise and specific results. Thus, alternate methods with high specificity and sensitivity are needed for accurate and timely detection of PCa. MicroRNAs regulate the molecular pathways involved in cancer by targeting multiple genes.
View Article and Find Full Text PDFBackground: The lymphohematopoietic cells originating from feto-maternal trafficking during pregnancy may cause microchimerism and lead to materno-fetal graft versus host disease (GVHD) in severe combined immunodeficiency (SCID) patients. However, definitive diagnosis between GVHD and Omenn's syndrome is often difficult based on clinical and immunological phenotypes particularly in the patients with hypomorphic mutations.
Case Presentation: A 3-year-old girl with a history of erythroderma and immunodeficiency was studied.
Coagulation factors belong to a family of plasma glycosylated proteins that should be activated for appropriate blood coagulation. Congenital deficiencies of these factors cause inheritable hemorrhagic diseases. Factor VII (FVII) deficiency is a rare bleeding disorder with variable clinical symptoms.
View Article and Find Full Text PDFBackground: Coagulation Factor VII is a vitamin K-dependent serine protease which has a pivotal role in the initiation of the coagulation cascade. The congenital Factor VII deficiency is a recessive hemorrhagic disorder that occurs due to mutations of gene. In the present study C91S (p.
View Article and Find Full Text PDFBackground And Aim: Early marriage threatens the health and human rights of millions of girls all around the world. The aim of this study was to explore the perceptions of Iranian teenage women about marriage in adolescence.
Methods: A qualitative study was conducted based on the conventional content analysis approach on 14 teenage married women (aged13-19 years) who attended all urban-rural healthcare centers (4 centers) in Ardabil, Iran between May 2016 and Jan 2017.
Introduction: Multiple sclerosis (MS) is a common neuro-inflammatory disease arising from interplay of multiple genetic and nongenetic factors. The complex etiology of MS highlights the importance of investigation in various populations exposed to different genetic and environmental risk factors and combination of the results of these studies for elucidation of the MS underlying mechanisms and management of this disease. The role of ETS-related gene (ERG) in inflammation and immune response has been suggested by different investigations.
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