Department of Medical Genetics (2005 - Present)
specialty in medical genetics and fellowship in oncogenetics
, Montpellier, France
The objective of this study was to investigate whether the combination of miR-224-5p, miR-199-3p, and let-7d-3p is a suitable diagnostic panel for endometriosis. Twenty-five women with endometriosis (case) and twenty-five women without any sign of endometriosis (controls) were included. Peripheral blood specimens were collected from all these women who were a proper candidate for laparoscopy before surgery. Total RNA was isolated to synthesize complementary DNA. Expression of miR-199b-3p, miR-224-5p, and let-7d-3p was analyzed by RT-qPCR. To estimate the performance of the identified miRNAs for endometriosis diagnosis, we performed ROC curves analysis. There was an upregulation of miRNAs 199b-3p (P value < 0.001) and 224-5p (P
Objective: Multiple myeloma (MM) is an incurable plasma cell malignancy. Several genetic and epigenetic changes affect numerous critical genes expression status in this disorder. CDKN2A gene is expressed at low level in almost all cases with MM disease. The mechanism of this gene down-regulation has remained controversial. In the present study, we targeted EZH2 by microRNA-124 (miR-124) in L-363 cells and assessed following possible impact on CDKN2A gene expression and phenotypic changes.Materials and Methods: In this experimental study, growth inhibitory effects of miR-124 were measured by MTT assay in L-363 cell line. Likewise, cell cycle assay was measured by flowcytometery. The expression levels of EZH2 and CDKN2A were evaluated by real
ObjectiveTo identify novel candidate diagnostic microRNA (miRNA) markers of endometriosis by means of an unbiased search with confirmation by means of targeted polymerase chain reaction (PCR).DesignRetrospective cohort.SettingUniversity teaching hospitals.Patient(s)Women with endometriosis and control women, confirmed with the use of laparoscopy.Interventions(s)Diagnostic laparoscopy and blood sample.Main Outcome Measure(s)Next-generation sequencing (NGS) and quantitative real-time PCR (qRT-PCR).Result(s)Candidate miRNAs differentially expressed in women with endometriosis compared with control women were identified by means of NGS and selected for qRT-PCR. Plasma samples from another cohort of women with surgically confirmed endometriosis
Endometriosis is primarily defined by the presence of endometrial glands and stroma outside of the uterine cavity. The diagnosis and management of the disease are challenging because of the unclear pathogenesis and heterogeneity of clinical symptoms.The main focus of the current study is to analyze the gene expression profiles of individuals with endometriosis and to clarify key candidate genes and pathways involved in the disease pathogenesis using the integrated bioinformatics analysis. The following mRNA expression profile datasets, namely GSE23339 and GSE25628, were obtained from the Gene Expression Omnibus database and differentially expressed genes (DEGs) with the following criteria p < 0.05 and [logFC] > 1 were identified. To
Background:Any irregularities in self-renewal/differentiation balance in endometriotic MSCs can change their fate and function, resulting in endometriosis development. This study aimed to evaluate the expression of OCT4 transcripts (OCT4A, OCT4B, and OCT4B1), SOX2, and NANOG in endometriotic MSCs to show their aberrant expression and to support self-renewal/differentiation imbalance in these cells.Methods:MSCs were isolated from three endometriotic and three normal endometrium samples and characterized and analyzed for the expressions of OCT4A, OCT4B, OCT4B1, SOX2, and NANOG using the qRT-PCR.Results:The expressions of OCT4 transcripts and NANOG increased significantly in endometriotic MSCs, whereas SOX2 expression did not show any signific
Purpose: Generating functional gametes for patients with male infertility is of great interest. We investigated different cultural systems for proliferation of SSCs derived from obstructive azoospermic patients.Materials and Methods: Testicular cells were obtained from men with obstructive azoospermia. after enzymatic digestion process, cells assigned to various groups: culture of SSCs in the dish without cover (control group), co-culture of SSCs with infertile Sertoli cells (I), co-culture of SSCs with fertile Sertoli cells (II), culture of SSCs on nanofiber (covered with laminin)(III), culture of testicular cell suspension (IV). Then cells were cultured and evaluated colony formation, gene-specific methylation by MSP, quantitative genes e
Objective: Stem cell issue is a strong theory in endometriosis pathogenesis. It seems that endometriotic mesenchymal stem cells (MSCs) show different characteristics compared to the normal MSCs. Determined high proliferation and low differentiation/decidualization potential of endometriotic MSCs could be accompanied by their microRNAs deregulation influencing their fate and function. In this study for the first time, we evaluated the expression of miR-200b, miR-145, and let-7b in endometriotic compared to non-endometriotic MSCs. These microRNAs are involved in biological pathways related to proliferation and differentiation of stem cells. Their aberrant expressions can disturb the proliferation/differentiation balance in stem cells, alterin
A method for modifying gene expression of diseased cells in a patient including preparing an extract of diseased cells, forming a plurality of conditioned stem cells by treating a plurality of normal stem cells with a solution of the extract of the diseased cells with a volume ratio between 10− 15 volume/volume (v/v) and 10− 3 v/v (volume of the extract of the diseased cells/volume of a culture medium), forming a conditioned stem cell-derived extract, and forming a plurality of healthy cells by treating the diseased cells with the conditioned stem cell-derived extract.
Persian Gulf cuttlefish mantles were hydrolyzed (CPH) using alcalase, and the optimal hydrolysis parameters were obtained for the highest degree of hydrolysis (DH) and strongest antioxidant (based on their ability to quench?1,1-diphenyl-2-picrylhydrazyl (DPPH) radicals) activity using response surface methodology (RSM). The predicted optimal parameters of DH and quenching DPPH radicals was: pH of 7.88, 50.2?C, 150?min, and enzyme to substrate ratio of 1.5%. The reducing power (RP) and ability of optimized peptides to quench ABTS radicals in a gastro-intestinal track model system increased during the intestinal stage, while scavenging ability against DPPH radicals dropped (P 0.05). The oxidation of lipid was retarded in a lecithin-liposome
Molecular characterization of novel mutations in Leber Congenital Amaurosis (LCA) disease improves the disease diagnosis and contributes to the development of preventive and therapeutic approaches. We studied an isolated inbred population in Iran with a high prevalence of retinal degeneration with clinical variability. The clinical examinations were performed on eight patients belonging to three consanguineous families. The identical-by-descent (IBD) mapping technique was employed to identify the shared loci in patients. Subsequently, Sanger sequencing of the GUCY2D gene, in silico analysis, as well as segregation study were conducted. The whole-exome sequencing method was applied for negative cases of GUCY2D mutation, followed by segregati
PurposeTo investigate the presence of a probable genetic defect(s) that may cause primary congenital glaucoma (PCG) in a seven-year-old female patient.MethodsA seven-year-old female patient and her family received genetic counseling and underwent full clinical examinations by an expert ophthalmologist. The patient's genomic DNA was subjected to the targeted gene capture and next-generation sequencing (NGS) along with Sanger sequencing method. The 3D structure prediction and stereochemistry analysis were performed for both mutant and wild-type forms of the CYP1B1 protein.ResultsThe clinical examinations indicated that the diagnosis of PCG was correctly made. We identified a novel homozygous deletion in which a “C” nucleotide was deleted
Objective:Hemoglobinopathies such as beta-thalassemia and sickle cell disease [SCD] are inherited disorders that are caused by mutations in beta-globin chain. Gamma-globin gene reactivation can ameliorate clinical manifestations of betathalassemia and SCD. Drugs that induce fetal hemoglobin [HbF] can be promising tools for treatment of beta-thalassemia and SCD patients. Recently, it has been shown that Simvastatin [SIM] and Romidepsin [ROM] induce HbF. SIM is a BCL11a inhibitor and ROM is a HDAC inhibitor and both of these drugs are Food and Drug Administration [FDA]-approved for hypercholesterolemia and cutaneous T-cell lymphoma respectively. Our aim was to evaluate the synergistic effects of these drugs in inducing HbF
Inosine is a base located at wobble position 34 of the tRNA anticodon stem–loop, enabling the recognition of more than one codon in the translation process. A heterodimer consists of ADAT3 and ADAT2 and is involved in the adenosine-to-inosine conversion in tRNA. Here, we report the second novel ADAT3 mutation in a patient with microcephaly, intellectual disability, and hyperactivity. These findings constitute a second mutation and expand the clinical spectrum of extremely rare ADAT3 mutations.
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