Abstract：
OBJECTIVES:Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes of the disease. In Iranian patients, it has been shown that SOD1, as compared to C9orf72, plays a much more prominent role. To date, more than 170 mutations have been reported in SOD1. Genotype/phenotype correlation with respect to either different causative genes or different mutations of a specific gene has not been well established. MATERIALS AND METHODS:Five exons of SOD1 and flanking intronic sequences of an Iranian FALS proband were screened for mutations by direct sequencing. Also, the clinical features of the proband were described. RESULTS:Heterozygous p.Val48Phe causing mutation was identified in SOD1. Age at onset was 29 years and site of the first presentation was the lower extremity in the proband. CONCLUSION:The p.Val48Phe causing mutation appears to cause early onset of ALS.
journal_name
Iran J Basic Med Scijournal_title
Iranian journal of basic medical sciencesauthors
Alavi A,Khani M,Nafissi S,Shamshiri H,Elahi Esubject
Has Abstractpub_date
2014-10-01 00:00:00pages
735-9issue
10eissn
2008-3866issn
2008-3874journal_volume
17pub_type
杂志文章abstract：Objectives:Chemotherapies used to treat colon cancer might often fail due to the emergence of chemoresistance and side effects. Escherichia coli Nissle 1917 (EcN) is a beneficial probiotic, whose molecular mechanisms in the prevention of colon cancer are yet to be fully understood. The present study assessed the anti-c...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2020.43016.10115
更新日期：2020-07-01 00:00:00
abstract：OBJECTIVES:Prostate cancer is the world's leading cause of cancer and the second cause of cancer-related death in men after lung cancer. Differentiation of prostate adenocarcinoma from benign prostate lesions and hyperplasia sometimes cannot be done on the basis of morphologic findings. Considering the fact that in the...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2014-07-01 00:00:00
abstract：Objective:The role of growth factors, including vascular endothelial growth factor of activated omentum on mitosis is clearly known, though not on all the aspects of in vitro oocyte maturation. This study was designed to assess the effect of activated-omental extract (AOE) on in vitro maturation (IVM) of rat cumulus-oo...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/IJBMS.2017.9622
更新日期：2017-12-01 00:00:00
abstract：Objectives:Several lines of evidence showed that minocycline possesses antioxidant and anti-inflammatory properties. This study aimed to demonstrate the effects of minocycline in rats subjected to chronic constriction injury (CCI). Materials and Methods:In this study four groups (n = 6-8) of rats were used as follows:...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/IJBMS.2017.24248.6053
更新日期：2018-02-01 00:00:00
abstract：Objectives:We investigated the role of various biomaterials on cell viability and in healing of an experimentally induced femoral bone hole model in rats. Materials and Methods:Cell viability and cytotoxicity of gelatin (Gel; 50 µg/µl), chitosan (Chi; 20 µg/µl), hydroxyapatite (HA; 50 µg/µl), nanohydroxyapatite (nHA; ...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2020.46228.10707
更新日期：2020-11-01 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:Hyperthermia is one of the most common environmental stressors that affect multi-biological systems in the body including the central nervous system as well as the hematopoietic organs. The objective of the present study was to investigate the protective role of ethanolic extract of propolis (EEP) on some se...
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：:Nigella sativa is the miraculous plant having a lot of nutritional and medicinal benefits, and attracts large number of nutrition and pharmacological researchers. N. sativa seed composition shows that it is the blessing of nature and it contains and many bioactive compounds like thymoquinone, α-hederin, alkaloids, fla...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章,评审
doi：
更新日期：2014-12-01 00:00:00
abstract：:Klotho (KL) encodes a single-pass transmembrane protein and is predominantly expressed in the kidney, parathyroid glands, and choroid plexus. Genetic studies on the KL gene have revealed that DNA hypermethylation is one of the major risk factors for aging, diseases, and cancer. Besides, KL exerts anti-inflammatory and...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章,评审
doi：
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：OBJECTIVE(S):The ongoing increasing antibiotic resistance is one of the biggest challenges faced by global public health. The perennial need for new antimicrobials against a background of increasing antibiotic resistance in pathogenic and opportunistic microorganisms obliges the scientific community to constantly devel...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2013-07-01 00:00:00
abstract：OBJECTIVES:Lipocalin 2 (Lcn2) is a 25-kDa glycoprotein that has initially been extracted from neutrophil granules. Expression of Lcn2 is induced under various pathophysiological conditions. It is also known as an early marker of kidney and heart injury. High-level expression of recombinant Lcn2 neutrophil gelatinase-as...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2012-05-01 00:00:00
abstract：OBJECTIVE(S):Spermatogonial Stem Cells (SSCs) maintain spermatogenesis throughout the life of the male. Because of the small number of SSCs in adult, enriching and culturing them is a crucial step prior to differentiation or transplantation. Maintenance of SSCs and transplantation or induction of in vitro spermio-genes...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2013-02-01 00:00:00
abstract：UNLABELLED:Objective(s ): Targeting the neuropeptide systems has been shown to be useful for the development of more effective antipsychotic drugs. Neurotensin, an endogenous neuropeptide, appears to be involved in the mechanism of action of antipsychotics. However, the available data provide conflicting results and th...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2014-03-01 00:00:00
abstract：Objectives:The aims of the present study were to investigate the expression of calcium sensing receptor (CaSR) at different times in acute myocardial infarction (AMI) rat myocardial tissue after mouse embryonic stem cells (mESCs) transplantation treatment and to assess its effects on apoptosis and oxidative stress of c...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2020.47436.10916
更新日期：2020-10-01 00:00:00
abstract：OBJECTIVES:Morphine is widely used to treat chronic pain. However, its utility is hindered by the development of tolerance to its analgesic effects. Despite the renowned beneficial effects of physical exercise on cognitive functions and signs of morphine withdrawal in morphine-dependent rats, little is known about the ...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
abstract：Objectives:In addition to genetic factors, environmental phenomena during postnatal age highly affect development and, in turn, function of the brain. The present work evaluates if morphine consumption during lactation period influences the spatial performances and synaptic plasticity in rats at neonatal period of age....
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2019.36892.8789
更新日期：2019-09-01 00:00:00
abstract：OBJECTIVE(S):Drug resistant Acinetobacter baumannii have emerged as a major problem in many hospitals and intensive care units. Various types of extended spectrum beta-lactamases (ESBLs) are responsible for resistance to beta-lactam antibiotics in different parts of the world. The objective of this study was to determi...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2013-06-01 00:00:00
abstract：OBJECTIVES:Due to unsatisfactory response or intolerable side effects of current drugs, treatment of essential tremor remains inadequate. Thus, we aimed to investigate the protective and therapeutic effects of aqueous and ethanolic extracts of Crocus sativus (saffron), and its active consistent, safranal, on the harmal...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2015-05-01 00:00:00
abstract：Objectives:Inflammation is involved in various forms of pulmonary arterial hypertension (PAH). Although the pathophysiology of PAH remains uncertain, NF-κB and p38 mitogen-activated protein kinase (p38 MAPK) has been reported to be associated with many inflammatory mediators of PAH. This study aimed to evaluate the eff...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2018.25399.6280
更新日期：2018-03-01 00:00:00
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 sequencin...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2019.30754.7414
更新日期：2019-05-01 00:00:00
abstract：OBJECTIVES:This study aimed to examine the hypothesis that an antiarrhythmic effect might be obtained by ischemic preconditioning of the liver, and also to characterize the potential underlying mechanisms. MATERIALS AND METHODS:Male Wistar rats were anesthetized by thiopental sodium (50 mg/kg, IP) followed by IV injec...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2015-01-01 00:00:00
abstract：Objectives:Periodontal diseases are among prevalent oral health problems which may ultimately lead to severe complications in oral cavity. Herbal products can be designed as single or multicomponent preparations for better oral health. This study aims to review current clinical trials on the effectiveness of herbal pro...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章,评审
doi：10.22038/IJBMS.2018.31997.7690
更新日期：2018-10-01 00:00:00
abstract：OBJECTIVES:Opioids and cannabinoids are two important compounds that have been shown to influence the activity of magnocellular neurons (MCNs) of supraoptic nucleus (SON). The interaction between opioidergic and cannabinoidergic systems in various structures of the brain and spinal cord is now well established, but not...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2016-06-01 00:00:00
abstract：OBJECTIVES:Fabaceae is the third largest family of flowering plants. Lack of essential oils in the plants of this family can be considered as an advantage and can favor them in search for safe and antiepileptic medicines. The effects of Fabacea family plants including Ebenus stellata (E. stellata), Sophora alopecuroide...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2012-05-01 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: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:This study aimed to investigate the glucose and lipid metabolism improving effect of the total flavonoids from Selaginella tamariscina (Beauv.) Spring (TFST) on db/db mice, and to study its mechanism of action. Materials and Methods:The db/db mice were divided into 5 groups: the normal group (NC), the diabe...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：10.22038/ijbms.2020.40532.9594
更新日期：2020-10-01 00:00:00
abstract：OBJECTIVES:Cyclooxygenases (COXs) are known to play some roles in physiological mechanisms related to learning and memory. Since sodium salicylate is an inhibitor of COX, we have evaluated the effect of peripheral and intra-hippocampal administration of sodium salicylate on spatial learning and memory in male rats. MA...
journal_title：Iranian journal of basic medical sciences
pub_type： 杂志文章
doi：
更新日期：2012-03-01 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
