Identification of rare and pathogenic TAL2 gene mutations in B-lineage acute lymphoblastic leukemia (B-ALL) using mutational screening and comprehensive bioinformatics analysis.

Background: Recent genomic research has identified several genetic factors contributing to B-cell acute lymphoblastic leukemia (B-ALL). However, the exact cause of the disease is still not fully understood. It is known that mutations in the TAL2 gene play important roles in the development of acute lymphoblastic leukemia.

Relationship Between Ankylosing Spondylitis and Cerebrovascular Disorders: A Systematic Review.

Cerebrovascular events are linked to ankylosing spondylitis. Accelerated atherosclerosis and endothelial dysfunction against a backdrop of inflammation have been widely blamed for the increased cerebrovascular risk in ankylosing spondylitis. The absence of a comprehensive review encouraged us to consider the link between ankylosing spondylitis and cerebrovascular diseases.

Growth-Associated Protein 43 and Tensor-Based Morphometry Indices in Mild Cognitive Impairment.

Growth-associated protein 43 (GAP-43) is found in the axonal terminal of neurons in the limbic system, which is affected in people with Alzheimer's disease (AD). We assumed GAP-43 may contribute to AD progression and serve as a biomarker. So, in a two-year follow-up study, we assessed GAP-43 changes and whether they are correlated with tensor-based morphometry (TBM) findings in patients with mild cognitive impairment (MCI).

Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).

Recurrent pregnancy loss (RPL) is a common but complex complication in fertility conditions, affecting about 15-20% of couples. Although several causes have been proposed for RPL, it occurs in about 35-60% of cases without a known explanation. A strong assumption is that genetic factors play a role in the etiology and pathophysiology of PRL.

Non-coding RNAs and exosomal non-coding RNAs in pituitary adenoma.

Pituitary adenoma (PA) is the third most common primary intracranial tumor in terms of overall disease incidence. Although they are benign tumors, they can have a variety of clinical symptoms, but are mostly asymptomatic, which often leads to diagnosis at an advanced stage when surgical intervention is ineffective. Earlier identification of PA could reduce morbidity and allow better clinical management of the affected patients.

A case report of Bart syndrome.

Bart syndrome is a rare condition characterized by epidermolysis bullosa (EB), aplasia cutis (AC), and nail abnormalities. Aplasia cutis congenita type VI was first described in 1966 by Bart et al. This article reports a case of Bart syndrome with ear malformation in a male Afghan newborn.

Systemic lupus erythematosus: From non-coding RNAs to exosomal non-coding RNAs.

Systemic lupus erythematosus (SLE), as an immunological illness, frequently impacts young females. Both vulnerabilities to SLE and the course of the illness's clinical symptoms have been demonstrated to be affected by individual differences in non-coding RNA expression. Many non-coding RNAs (ncRNAs) are out of whack in patients with SLE.

Mitochondrial mutations in protein coding genes of respiratory chain including complexes IV, V, and mt-tRNA genes are associated risk factors for congenital heart disease.

Most studies aiming at unraveling the molecular events associated with cardiac congenital heart disease (CHD) have focused on the effect of mutations occurring in the nuclear genome. In recent years, a significant role has been attributed to mitochondria for correct heart development and maturation of cardiomyocytes. Moreover, numerous heart defects have been associated with nucleotide variations occurring in the mitochondrial genome, affecting mitochondrial functions and cardiac energy metabolism, including genes encoding for subunits of respiratory chain complexes.

Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH).

Congenital hypothyroidism (CH) occurs with a relatively alarming prevalence in infants, and if not diagnosed and treated in time, it can have devastating consequences for the development of the nervous system. CH is associated with genetic changes in several genes that encode transcription factors responsible for thyroid development, including mutations in the NK2 homeobox 1 (NKX2.1) gene, which encodes the thyroid transcription factor-1 (TTF-1).

Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia.

During bone marrow B-cell development, the pre-B-cell receptor is formed by the association of the immunoglobulin heavy chain with a surrogate light chain, which is encoded by the VPREB1, and λ5 genes. It is known that pre-BCR signaling signifies a critical checkpoint at the pre-B-cell stage. Thus, failure pre-BCR signaling is proposed as a critical factor for the development of B-cell acute lymphoblastic leukemia (B-ALL).

A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.

Background: The genetic cause for the majority of patients with late-onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting a range of phenotypic features consistent with late-onset sensorimotor axonal polyneuropathy.

Methods: Whole exome sequencing (WES) followed by targeted variant screening and prioritization was performed to identify the candidate mutation.

Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.

Objective: Transcription factor GATA4 has significant roles in embryonic heart development. Mutations of GATA4 appear to be responsible for a wide variety of congenital heart defects (CHD). Despite the high prevalence of GATA4 mutations in CHD phenotypes, extensive studies have not been performed.

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Background: Familial adenomatous polyposis (FAP) as a colon cancer predisposition syndrome is an autosomal-dominant inherited condition and is diagnosed by the progress of hundreds or thousands of adenomatous colonic polyps in the colon. This study aims at the nature and effect of Adenomatous Polyposis Coli (APC) gene mutations in FAP tumorigenesis.

Methods: The genetic screening of 59 FAP Iranian patients in 10 families was performed by polymerase chain reactions and the direct sequencing of the entire coding exons of the APC gene.

Association of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP).

Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions.

Relationship of hypomethylation CpG islands in interleukin-6 gene promoter with IL-6 mRNA levels in patients with coronary atherosclerosis.

Atherosclerosis is the important cause of most cardiovascular diseases, with high prevalence and mortality. Atherosclerosis is not only a lipid metabolism disorder but also recently is defined as a chronic inflammatory disease. Several studies showed that interleukin-6 (IL-6) is involved in the pathogenesis of atherosclerosis.

Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease.

A wide range of genetic and environmental interactions are involved in the development of coronary artery disease (CAD). Considerable evidence suggests that mitochondrial DNA mutations are associated with heart failure. In this work, we examined the possible mutations in hotspot mitochondrial genes and their association with Iranian patients with coronary artery disease.

The association between gene polymorphisms and Iranian infertile men with varicocele: A case-control study.

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage.

Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study gene nucleotide variations in Iranian patients with varicocele.

Materials And Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the gene in 156 infertile patients with varicocele and 150 fertile men.

Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric Patients.

CITED2 is a cardiac transcription factor that plays a critical role in cardiac development. Gene mutations in CITED2 lead to a series of cardiac malformations and congenital heart defects (CHD). Congenital heart disease generally refers to defects in the heart's structure or function and often seen in many forms such as ventricular septal defects (VSDs), atrial septal defects (ASDs), and tetralogy of Fallot (TOF).

Protective effect of on Fenton reaction-induced DNA cleavage.

Objective: contains antioxidants that can inhibit DNA cleavage. The purpose of this study was to evaluate the antioxidant and protective activity of on DNA cleavage.

Materials And Methods: In this study, the antioxidant capacity of was investigated using DPPH and its protective effect was evaluated on plasmid and lymphocyte genomic DNA cleavage induced by Fenton reaction, by DNA electrophoresis.

Development of One-Step Tetra-primer ARMS-PCR for Simultaneous Detection of the I/D and Gene Polymorphisms and the Correlation with CAD Patients.

Background: The Insertion/Deletion and gene polymorphisms could be associated with pathogenesis of essential hypertension and cardiovascular disorders and Coronary Artery Disease (CAD). In the present study, a fast and novel approach of multiplex Tetra-Primer Amplification Refractory Mutation System-PCR (T-ARMS-PCR) was developed for simultaneous detection of two SNPs including (rs4340) and 2350A>G (rs4343) of () gene.

Methods: The present research was performed using 148 blood samples taken from patients with CAD and 135 healthy individuals.

Polymorphisms of sperm protamine genes and CMA3 staining in infertile men with varicocele.

Objectives: The aim of this study was to evaluate polymorphisms of sperm protamine genes and their effects on the result of CMA3 staining in varicocele men.

Material And Methods: In a case control study, 128 patients with male infertility due to varicocele and 128 controls were recruited. Polymorphisms of PRM1 and PRM2 genes in extracted DNA samples were assessed by PCR-SSCP and sequencing.

A novel heteroplasmic mutation in mitochondrial tRNA gene associated with non-dystrophic myotonias.

Non-dystrophic myotonias (NDM) are rare diseases caused by defects in skeletal muscle chloride and sodium ion channels. It is well established that high-energy consuming tissues such as muscular and nervous systems are exclusively dependent on the ATP generation by mitochondria. The mitochondrial dysfunction, which is caused by mitochondrial DNA mutations, played an important role in the pathogenesis of non-dystrophic myotonias.