Identification of novel RASGRP2 mutations in patients with platelet dysfunction.

Background: Inherited platelet function disorders (IPFDs) are rare hereditary diseases characterized by dysregulation of genes related to platelet receptors expression or signal transduction pathways. Bleeding disorder platelet-type 18 (BDPLT18) is an infrequent autosomal recessive platelet function disorder caused by RASGRP2 mutation. The RASGRP2 gene encodes calcium- and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI), which plays a role in the activation of the αIIbβ3 integrin in platelets.

A Comparative Review of Methods for Detecting Epidermal Growth Factor Receptor Mutations in Cell-Free DNA from Lung Cancer Patients.

Background: Lung cancer remains the leading cause of cancer-related mortality. Determining the T790M resistance variants and epidermal growth factor receptor (EGFR) mutations is crucial for personalized treatment, especially when using targeted therapies.

Objective: This review article aims to comprehensively compare some of the various diagnostic techniques associated with liquid biopsies, such as cell-free DNA (cfDNA) for T790M and EGFR mutant identification.

Factor VII Padua in Iran: A Study on 150 Patients With Factor VII Deficiency.

Introduction: Factor (F) VII Padua is an ultra-rare type II FVII deficiency characterized by discrepancies in FVII activity across different thromboplastin types. Due to the high prevalence of consanguineous marriages in Iran, rare bleeding disorders, including FVII deficiency, are more common. Accurate identification of FVII Padua is critical to avoid inappropriate treatments and thrombotic risks.

Development of an ELISA Test with High Diagnostic Accuracy for SARS-COV-2 Using Recombinant Nucleocapsid Protein Expressed in E. coli.

This study aimed to produce a recombinant N protein to develop an enzyme-linked immunosorbent assay (ELISA). A recombinant pET28a vector was constructed, and E. coli BL 21 was transformed for recombinant protein expression.

Development and validation of a multiplex qPCR method for identification of high-risk genotypes of human papillomavirus.

Cervical cancer is a significant public health concern, disproportionately affecting women in less developed regions due to limited access to screening and vaccination programs. Despite advancements in cervical cancer prevention and treatment, there remains a need for efficient and cost-effective diagnostic tools. This study aimed to develop a multiplex real-time PCR assay to rapidly and accurately identify 15 human papillomavirus (HPV) genotypes.

Human fetal lung mesenchymal stem cells ameliorate lung injury in an animal model.

Acute lung injury (ALI) is a critical condition with limited treatment options. This study evaluates the therapeutic potential of human fetal lung-derived mesenchymal stem cells (hFL-MSCs) in an experimental model of ALI. Our proof-of-concept findings suggest a paradigm shift in the approach to cell sourcing for lung diseases, proposing that fetal lung cells may be potential targets for stem cell differentiation studies when the derived cells are intended to be used for lung cell therapy.

Effect of microRNA-141-3p, E2F3, CDK3, and KAT2B overexpression on histologic tumor grade and metastasis status in untreated breast cancer tissues.

Introduction: Increasing evidence has reported gene expression alterations in breast cancer (BC) tissues, necessitating their investigating to highlight the molecular basis of the disease development or progression. This study investigated the expression of miR-141, E2F3, CDK3, TP53, and KAT2B, and their association with histologic grade and metastasis in BC tissues.

Methods: The RNA expression level of miR-141, E2F3, CDK3, TP53, and KAT2B genes was analyzed in 23 BC and 23 normal tissue samples by RT-qPCR.

Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.

Background: Hemophilia B, or Christmas disease, is a hemorrhagic inherited disorder. Previous studies have reported measurement discrepancies in factor VIII activity between clot-based and chromogenic assays in approximately one-third of patients with non-severe hemophilia A. However, similar discrepancies in hemophilia B have been less extensively studied.

Development and Validation of a Highly Sensitive RT-qLAMP Assay for Rapid Detection of SARS-CoV-2: Methodological Aspects.

Specific and reliable diagnostic methods are becoming increasingly essential to identify patients in light of the high transmission rate and the recent appearance of the new variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). For the specific detection of SARS-CoV-2, our quantitative reverse transcription loop-mediated isothermal amplification (RT-qLAMP) assay implementation demonstrates how flexible it can be with two readouts: visualized colorimetric and real-time fluorescence. Different factors were optimized to improve the reaction conditions, including temperature (60 °C), assay runtime (60 min), primers, MgSO (6 mM), dNTPs (1 mM), LAMP Buffer (1.

Development of a PCR-based method to identify fetal sex during IVF cycles.

One of the most recognizable cases of preimplantation genetic diagnosis (PGD) is X-linked diseases. Diagnosis of fetal sex is essential for couples who are known to be at risk of some X-linked disorders. The objective of this study was to discriminate between female (XX) and male (XY) embryos by detecting sex chromosomes-specific sequences in spent culture medium and comparing these results to PGD/CGH array results.

The effect of ribociclib on the expression levels of miR-141 and CDK4/6-USP51 signaling pathway genes in MCF-7 and MDA-MB-231 cells.

Introduction: Patients with breast cancer, especially triple-negative breast cancer, have a poor prognosis. There is still no effective treatment for this disease. Due to resistance to traditional treatments such as chemotherapy and radiation therapy, there is a need to discover novel treatment strategies to treat this disease.

CDC27 gene expression patterns as a potential biomarker in Acute Leukemia.

Background: Treating Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL) is difficult due to high relapse rates and drug resistance. Tumorigenesis is largely dependent on disruption of the cell cycle progression. While the role of Cell Division Cycle 27 (CDC27) in the anaphase-promoting complex/cyclosome is well-known, its significance in the pathophysiology of acute leukemia and its potential as a biomarker are less well understood.

Circulating miRNAs and lncRNAs serve as biomarkers for early colorectal cancer diagnosis.

Background: Colorectal cancer (CRC), the third most prevalent and lethal disease, accounted for approximately 1.9 million new cases and claimed nearly 861,000 lives in 2018. It is imperative to develop a minimally invasive diagnostic technique for early identification of CRC.

Suppression of SOCS3 expression in macrophage cells: Potential application in diabetic wound healing.

Impaired polarization of M1 to M2 macrophages has been reported in diabetic wounds. We aimed to improve this polarization by down-regulation of expression of the "Suppressor of Cytokine Signaling 3" (SOCS3) gene in macrophages. Two oligodeoxynucleotide (ASO) sequences were designed against SOC3 mRNA and were loaded to mannosylated-polyethyleneimine (Man-PEI).

The Effect of Chitosan/Alginate/Graphene Oxide Nanocomposites on Proliferation of Mouse Spermatogonial Stem Cells.

Male survivors of childhood cancer have been known to be afflicted with azoospermia. To combat this, the isolation and purification of spermatogonial stem cells (SSCs) are crucial. Implementing scaffolds that emulate the extracellular matrix environment is vital for promoting the regeneration and proliferation of SSCs.

Diagnostic accuracy of serum derived exosomes for hepatocellular carcinoma: a systematic review and meta-analysis.

Introduction: Early and non-invasive detection of hepatocellular carcinoma (HCC), which is usually asymptomatic, can improve overall survival outcomes. The objective of this systematic review and meta-analysis was to evaluate the diagnostic accuracy of serum-derived exosomes for diagnosing HCC.

Methods: PubMed, Web of Science, and Scopus databases were searched for relevant studies up to April 2023.

Associations of multiple genetic variations with plasma levels of Von Willebrand Factor and clinical phenotype in Iranian patients with Von Willebrand disease type 1.

Background: Genetic variations influence the Von Willebrand Factor plasma level and function. This study aims to evaluate the frequency and clinical phenotype effects of eight single nucleotide polymorphism candidates in four genes (VWF, STXBP5, CLEC4M, and ABO) in Iranian patients with VWD type 1.

Method: The study recruited 50 patients with VWD type 1 and 100 healthy individuals.

Cancer cells same as zombies reprogram normal cells via the secreted microenvironment.

The cancer microenvironment plays a crucial role in promoting metastasis and malignancy even in normal cells. In the present study, the effect of acidic and conditioned media of cancer cells (MDA-MB-231), separately and in combination, was studied for the first time on the cell death mechanisms and DNA methylation of normal fibroblasts (NIH/3T3). Cell survival of conditioned media was rescued by the addition of acidic media to conditioned media, as shown by the results.

A systematic method introduced a common lncRNA-miRNA-mRNA network in the different stages of prostate cancer.

Introduction: The present study aimed to investigate the interaction of the common lncRNA-miRNA-mRNA network involved in signaling pathways in different stages of prostate cancer (PCa) by using bioinformatics and experimental methods.

Methods: Seventy subjects included sixty PCa patients in Local, Locally Advanced, Biochemical Relapse, Metastatic, and Benign stages, and ten healthy subjects were entered into the current study. The mRNAs with significant expression differences were first found using the GEO database.

The Effect of the Saffron Intervention on NAFLD Status and Related Gene Expression in a Rat Model.

Background: According to the worldwide increasing prevalence of non-alcoholic fatty liver disease (NAFLD), the present study aimed to investigate the mechanism effects of saffron consumption on preventing NAFLD in a rat model.

Methods: In an experimental study, 12 rats were randomly divided into 2 groups to be evaluated in the prevention phase for 7 weeks. In the prevention phase, the animals were randomly assigned to either fed HFHS + 250 mg/kg saffron (S) or fed with HFHS.

Evaluation of expression of biomarkers of PLAGL1 (ZAC1), microRNA, and their non-coding RNAs in patients with endometriosis.

Since the PLAGL1 (ZAC1) gene is expressed in the human endometrium. It may be involved in the etiology of endometrial disorders by its abnormal regulation and expression. This study aimed to investigate the Zac1 gene and related microRNA and LncRNA and its alterations in patients with endometriosis.

Exosomes to control glioblastoma multiforme: Investigating the effects of mesenchymal stem cell-derived exosomes on C6 cells in vitro.

Glioblastoma multiforme (GBM) is a common, aggressive, fast-growing tumor of the central nervous system that currently has no effective treatment. Although stem cell therapy has shown promising in vitro achievements, the blood-brain barrier (BBB) has always been a major hurdle to clinical success. To overcome this challenge, exosomes have been targeted as attractive drug delivery agents in numerous studies since they are small enough to enter the BBB.

The expression of type II TA system genes following persister cell formation in Pseudomonas aeruginosa isolates in the exponential and stationary phases.

Failure of infection therapy in the presence of antibiotics has become a major problem which has been mostly attributed to the ability of bacterial persister cell formation. Bacteria use various mechanisms to form persister cells in different phases, among which is the toxin-antitoxin (TA) systems. This study aimed at investigating the expression of type II TA system genes under the stress of ciprofloxacin and colistin antibiotics in the exponential and stationary phases.

Studying the potential of upregulated PTGS2 and VEGF-C besides hyper-methylation of PTGS2 promoter as biomarkers of Acute myeloid leukemia.

Hereby, we aimed to investigate the expression of prostaglandin-endoperoxide synthase 2 (PTGS2) and Vascular Endothelial Factor-C (VEGF-C) besides the methylation of PTGS2 in AML patients. VEGF-C and PTGS2 expression analysis were evaluated in newly diagnosed AML patients and healthy controls by quantitative Reverse Transcriptase PCR method. Also, PTGS2 methylation status was evaluated by Methylation-Sensitive High-Resolution Melting Curve Analysis (MS-HRM).