Abstract:
Objectives:Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to find these genes. Materials and Methods:Here, we tried to find the genetic cause of the neuropathy in two Iranian brothers using WES. Blood sample was collected from probands and their family members to extract the genomic DNA. The extracted DNA from one of the affected case was subjected for WES. The variant calls were filtered to reveal the pathogenic variant. Presence of the candidate mutation was confirmed using Sanger sequencing. The pathogenic potential of the variant was examined using in silico software. Using ClustalW multiple alignment, the presence of variant in conserved domain of protein was investigated. The parent and another affected boy were also checked for presence of the variant using PCR-sequencing. Results:The obtained data presented a novel TTC del mutation in CDS 738 of dystrophin related protein 2 (DRP2) gene, which was validated by sequencing. The variant was located in a conserved domain of DRP2 protein and predicted as pathogenic. Two affected boys were hemizygous for the mutation and received the mutation from mother. Conclusion:Here, we provided the evidence for the contribution of DRP2 in CMT. Also, the symptoms shed light on molecular aspect of this genetically heterogeneous disease.
journal_name
Iran J Basic Med Scijournal_title
Iranian journal of basic medical sciencesauthors
Tahmasebi-Birgani M,Hajjari M,Golchin N,Shalbafan B,Mohammadi-Asl J,Sadeghian Fdoi
10.22038/ijbms.2019.30754.7414subject
Has Abstractpub_date
2019-05-01 00:00:00pages
576-580issue
5eissn
2008-3866issn
2008-3874journal_volume
22pub_type
杂志文章abstract::Rosa damascena mill L., known as Gole Mohammadi in is one of the most important species of Rosaceae family flowers. R. damascena is an ornamental plant and beside perfuming effect, several pharmacological properties including anti-HIV, antibacterial, antioxidant, antitussive, hypnotic, antidiabetic, and relaxant effec...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2011-07-01 00:00:00
abstract::Sulfur mustard (SM, bis- (2-chloroethyl) sulphide) is a chemical warfare agent that causes DNA alkylation, protein modification and membrane damage. SM can trigger several molecular pathways involved in inflammation and oxidative stress, which cause cell necrosis and apoptosis, and loss of cells integrity and function...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章,评审
doi:
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVES:Astrodaucus persicus, Apiaceae, is used as vegetable or food additive in some parts of Iran. The essential oils of different parts of Astrodaucus persicus from Kordestan province were analyzed for the first time and compared with other regions. In this study, antioxidant activities and total phenols determin...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2016-02-01 00:00:00
abstract:OBJECTIVES:To study the effect of low-frequency vibration on bone marrow stromal cell differentiation and potential bone repair in vivo. MATERIALS AND METHODS:Forty New Zealand rabbits were randomly divided into five groups with eight rabbits in each group. For each group, bone defects were generated in the left humer...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2017.8088
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVES:In food industry, the inhibition of tyrosinase is very important, because this enzyme catalyzes the oxidation of phenolic compounds found in fruits and vegetables into quinones, which contribute in undesirable color and taste of fruits and vegetables. Teucrium polium L. var. gnaphalodes (Lamiaceae), a wild-g...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2016-08-01 00:00:00
abstract::Thromboangiitis obliterans (TAO) is a thrombotic-occlusive as well as an inflammatory peripheral vascular disease with unknown etiology. Recent evidence has supported the immunopathogenesis of the disease, however, the factors contributing to the altered immune function and vascular tissue inflammation are still uncle...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章,评审
doi:10.22038/ijbms.2019.31119.7513
更新日期:2019-03-01 00:00:00
abstract:Objectives:Ferula ovina is an Iranian medicinal plant. Tschimgine and stylosin are two of its major monoterpene derivatives. In this study, we proceeded to investigate some fungal endophytes from F. ovina that can produce plant secondary metabolites. Materials and Methods:The isolated endophytic fungi were fermented i...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2020.46334.10703
更新日期:2020-12-01 00:00:00
abstract:Objectives:We investigated the role of nitric oxide (NO) in the protective effects of remote ischemic per-conditioning (rIPerC) on renal ischemia/reperfusion (I/R) injury in male rats. Materials and Methods:I/R treatment consisted of 45 min bilateral renal artery ischemia and 24 hr reperfusion interval. rIPerC was per...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2018.25810.6354
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVES:To clarify the protective effects of Cichorium glandulosum (CG) extracts on thioacetamide (TAA)-induced rat hepatic fibrosis. MATERIALS AND METHODS:The dry roots of CG were smashed and percolated with 95% ethanol, and the residual was prepared into petroleum ether extract (CG-V), ethyl acetate extract (CG-V...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2014-11-01 00:00:00
abstract:Objectives:This study was to investigate the antihyperlipidemic and antioxidant effect of total flavonoid extract from Actinidiakolomikta (TFAK) in hyperlipidemia induced by a high-fat diet. Materials and Methods:Male SD rats were randomly divided into 6 groups: normal group, model (hyperlipidemic diet) group, hyperli...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2017.9365
更新日期:2017-10-01 00:00:00
abstract:Objectives:Bacteriophages are infectious replicating entities that are under consideration as antimicrobial bioagents to control bacterial infections. As an alternative or supplement to antibiotics, bacteriophages can be used to circumvent the resistance to existing antibiotics. The aim of this study was to assess the ...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2019.37561.8989
更新日期:2020-02-01 00:00:00
abstract:Objectives:The present study aimed to determine and compare moisturizing and occlusion effects of different solid lipid nanoparticles (SLN) and nanostructured lipid carriers (NLC) using magnetized water and deionized water. Materials and Methods:SLN formulations were prepared using various lipids, including Tripalmiti...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2020.39587.9397
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:Determination of stages of colon cancer is done by biopsy usually after surgery. Metabolomics is the study of all the metabolites using LC-MS and 1HNMR spectroscopy with chemometric techniques. The stages of colon cancer were detected from patients' sera using 1HNMR. MATERIALS AND METHODS:Five ml blood was ...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2017.9022
更新日期:2017-07-01 00:00:00
abstract:Objectives:Bacterial translocation in patients with cirrhosis is an important triggering factor for infections and mortality. In the bile duct ligation (BDL) model, crucial players of bacterial translocation are still unknown. This study aims to determine the interrelation between microbiome composition in the colon, m...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2019.36487.8753
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVES:Human Cytomegalovirus (HCMV) remains a major morbidity and mortality cause in immuno suppressed patients. Therefore, significant effort has been made towards the development of a vaccine. In this study, the expression of the pp65 and gB fusion peptides and Fc domain of mouse IgG2a as a novel delivery system ...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2016-04-01 00:00:00
abstract:Objectives:Osteonecrosis of the jaw, as an exposed necrotic bone in the oral cavity, is one of the adverse effects of bisphosphonates, which have an affinity for bone minerals. This study investigates the cytotoxic effects of alendronate (ALN) as a nitrogen-containing bisphosphonate, on human dental pulp stem cells (hD...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2018.22877.5816
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVES:Similar characteristics of molecular pathways between cellular reprogramming events and tumorigenesis have been accentuated in recent years. Reprogramming-related transcription factors, also known as Yamanaka factors (OCT4, SOX2, KLF4, and c-MYC), are also well-known oncogenes promoting cancer initiation, pr...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2016-10-01 00:00:00
abstract:OBJECTIVES:Acquisition of TNF-α resistance plays role in the onset and growth of malignant tumors. Previous studies have demonstrated that MCF-7 cell line and its doxorubicin resistant variant MCF-7/Adr are resistant against the cytotoxic effects of TNF-α. In this study, we investigated the role of Akt activation in re...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2016.7924
更新日期:2016-12-01 00:00:00
abstract:Objectives:Resveratrol (RSV) is a naturally occurring plant polyphenol with cardioprotective, neuroprotective, immunoregulatory, and anticancer properties and is biologically effective against various diseases. This study aimed to investigate the chemopreventive effect of different doses of RSV against hepatocellular c...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2019.36821.8774
更新日期:2020-01-01 00:00:00
abstract:Objectives:Renal ischemia-reperfusion injury (IRI) as a severe condition of acute kidney injury (AKI) is the most common clinical problem with high mortality rates of 35-60% deaths in hospital. Mesenchymal stem cells (MSC) due to unique regenerative characteristics are ideal candidates for the treatment of the ischemic...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2018.26829.6566
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVES:Herbal waters are extensively used in most parts of including . Visiting a patient with total blindness due to daily ingestion of around 200 ml of herbal water (Plant forty water) per day for six months was the rational for methanol determination in all herbal waters available in markets. MATERIALS AND METH...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2011-07-01 00:00:00
abstract:Objectives:Alginates play a key role in mucoid Pseudomonas aeruginosa colonization, biofilm formation, and driving out of cationic antibiotics. P. aeruginosa alginate lyase (AlgL) is a periplasmic enzyme that is necessary for alginate synthesis and secretion. It also has a role in depolymerization of alginates. Using A...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2020.37277.8874
更新日期:2020-04-01 00:00:00
abstract:Objectives:Morbidity and mortality due to diabetes mellitus (DM) result in exorbitant psycho-economical costs, so there is a strong need to create new strategies and drugs for controlling DM. The aim of the current study was to investigate the anti-diabetic effect of the aqueous extract of Pterocarpus santalinus on str...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2019.34998.8325
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE(S):Garlic (Allium sativum L. family Liliaceae) is well known in Iran and its leaves, flowers, and cloves have been used in traditional medicine for a long time. Research in recent decades has shown widespread pharmacological effects of A. sativum and its organosulfur compounds especially Allicin. Studies carr...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章,评审
doi:
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE(S):Gastric cancer is the first and second leading cause of cancer related death in Iranian men and women, respectively. Gastric cancer management is based on the surgery, radiotherapy and chemotherapy. In the present study, for the first time, the beneficial effect of saffron (Crocus sativus L.) aqueous extra...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
abstract:Objectives:The monitoring of cancer treatment response to chemotherapy is considered an essential strategy for follow-up of patients. The aim of this study was to evaluate the use of 99mTc-glucarate as a radiotracer for in vivo quantification and visualization of necrotic area and therapeutic effect of paclitaxel in ov...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2017.24707.6138
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVES:Parkinson's disease (PD) is a progressive neurological disorder associated with motor disabilities and cognitive dysfunction as well. Evidence indicates that PD occurs less frequently in women than men, confirming a role for steroid hormones in protection of dopaminergic nigrostriatal neurons. It is reported...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/ijbms.2016.7911
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVES:Eukaryotic translation initiation factor 4E (eIF4E) is overexpressed in cervical cancer (CC). However, the molecular mechanisms are unclear. This study aimed to investigate the molecular mechanism of eIF4E gene overexpression in CC. MATERIALS AND METHODS:The human papillomavirus (HPV) type 18 E7 and eIF4E m...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVES:Tadalafil can restore endothelial function and treat atherosclerosis. However, the effect of tadalafil on transplant arteriosclerosis remains unclear. In this study, we explore the effects of tadalafil on allograft vasculopathy. MATERIALS AND METHODS:Male Brow-Norway rats supplied aorta grafts for Male Lewi...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:Particulate matter (PM) exposure can promote cardiac ischemia and myocardial damage. The effects of PM10 on hemodynamic parameters, lipid peroxidation, and infarct size induced by ischemia-reperfusion injury and the protective effects of vanillic acid (VA) in isolated rat heart were investigated. MATERIALS ...
journal_title:Iranian journal of basic medical sciences
pub_type: 杂志文章
doi:10.22038/IJBMS.2017.9007
更新日期:2017-07-01 00:00:00