Publications by authors named "Seyed Reza Kazemi-Nezhad"

Background: Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine-4-hydroxylase (PAH) and non-PAH deficiency. The latter is produced by mutations in genes involved in the tetrahydrobiopterin (BH4) biosynthesis pathway and DNAJC12 pathogenetic variants. The BH4 metabolism, including de novo biosynthesis involved genes (i.

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Article Synopsis
  • Phenylketonuria (PKU) is a genetic disorder caused by a defect in the PAH enzyme, leading to mental retardation if not diagnosed early; over 1,040 mutations have been identified in the PAH gene.
  • A new multiplex assay using SNaPshot minisequencing was developed to detect 10 common PAH mutations efficiently through a single PCR and subsequent reactions.
  • The method demonstrated a 100% detection rate for these mutations in the Iranian population, making it an effective tool for neonatal screening and carrier testing.
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Colorectal cancer (CRC) is one of the most common types of cancer worldwide. However, the molecular mechanisms involved in CRC initiation and progression is remained to be unknown. It seems that lncRNAs, as the main and lengthy functional transcripts of the genome, have important roles in different cancers such as CRC.

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Objectives: This study aims to investigate the association of polymorphism rs10181656 (C>G) of signal transducer and activator of transcription 4 (STAT4) gene with rheumatoid arthritis (RA) and systemic sclerosis (SSc) in the southwest of Iran as well as the probable relationship between the polymorphism with clinical features and disease activity parameters in both diseases.

Patients And Methods: A total of 200 patients (120 with RA [21 males, 99 females; mean age 44.83 years; range, 16 to 75 years] and 80 with SSc [13 males, 67 females; mean age 44.

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Background: Ovarian cancer has the highest ratio of mortality among gynecologic malignancies. Chemotherapy is one of the most common treatment options for ovarian cancer. However, tumor relapse in patients with advanced tumor stage is still a therapeutic challenge for its clinical management.

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Burn is one of the common wounds in the world and using modern methods such as cell therapy can be considered as an effective strategy in the treatment of these wounds. The aim of this study is investigating the effects of using graphene quantum dots (GQDs) associated fibroblasts on treating third-degree burns in Wistar rats. In this experiment, cells were obtained by isolating fibroblasts from 13-day embryos of Wistar rats.

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Introduction: Genetic and environmental factors are involved in the incidence of schizophrenia and bipolar disorder. Many reports confirm that several common genes are connected with these two psychotic disorders. Several neurotransmitters may be involved in the molecular mechanisms of schizophrenia and bipolar disorder.

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Background: Single-nucleotide polymorphism (SNP) rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) has been shown to be a risk factor for different autoimmune diseases. This study explored the association of 1858 C/T SNP with rheumatoid arthritis (RA) and celiac disease (CD) in a region covering south-west of Iran.

Methods: Totally, 52 patients with CD, 120 patients with RA, and 120 healthy subjects were selected.

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Linkage studies and epidemiological findings indicate that some possible genes in schizophrenia (SCZ) and bipolar mood disorder (BPD) are common. Numerous evidences for linkage of two diseases on chromosome 22 have been found. These findings suggest that one or more genes in the 22q11.

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Schizophrenia is a complex disorder with polygenic inheritance. The gene (OMIM: 607093) plays an important role in the folate metabolism. It has been suggested that C677T (rs1801133) and A1298C (rs1801131) genetic polymorphisms in the gene lead to the decreased activity of the methylenetetrahydrofolate reductase enzyme which may have significant effect on developing schizophrenia.

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Diabetes Mellitus is characterized by chronic hyperglycemia and associated with an increased production of reactive oxygen species (ROS). Oxidative stress is the result of accumulation of free radicals in tissues which specially affects beta cells in pancreas. Glutathione S-transferases (GSTs) are a family of antioxidant enzymes that include several classes of GSTs.

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of .

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