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International Journal of Molecular and Cellular Medicine

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https://www.readbyqxmd.com/read/28357203/a-novel-splicesite-mutation-in-the-edar-gene-causes-severe-autosomal-recessive-hypohydrotic-anhidrotic-ectodermal-dysplasia-in-an-iranian-family
#1
Shahram Torkamandi, Milad Gholami, Javad Mohammadi-Asl, Somaye Rezaie, Mohammad Ali Zaimy, Mir Davood Omrani
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c.730-2 A>G(IVS 8-2 A>G) in EDAR gene in homozygous form in all affected members of a family,and in heterozygous form in carriers...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357202/a-novel-nonsense-mutation-in-pank2-gene-in-two-patients-with-pantothenate-kinase-associated-neurodegeneration
#2
Soudeh Ghafouri-Fard, Vahid Reza Yassaee, Alireza Rezayi, Feyzollah Hashemi-Gorji, Nasrin Alipour, Mohammad Miryounesi
Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthesis. Here we report two cases of classic PKAN syndrome with early onset of neurodegenerative disorder. Mutational analysis has revealed that both are homozygous for a novel nonsense mutation in PANK2 gene (c...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357201/should-we-perform-semen-analysis-dna-fragmentation-and-hypo-osmotic-swelling-tests-together
#3
Samaneh Hasanzadeh Keshteli, Mir Mehrdad Farsi, Soraya Khafri
Semen analysis, sperm DNA fragmentation (SDF) and hypo-osmotic swelling test (HOST) are usually performed for the evaluation of sperm fertilizing ability. There are some debates over the necessity of SDF and HOST incorporation in male infertility work-up.Semen of 77 men was evaluated by SDF and HOST through three semen analyses. Sperm parameters were arranged into different categories: <5%, 5-15%, >15% for normal morphology; <50%, 50-70%, >70 % for motility; and <10, 10-20, 21-34, 35-50, >50 million/ml for concentration...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357200/analysis-of-copy-number-variations-in-patients-with-autism-using-cytogenetic-and-mlpa-techniques-report-of-16p13-1p13-3-and-10q26-3-duplications
#4
Saghar Ghasemi Firouzabadi, Roshanak Vameghi, Roxana Kariminejad, Hossein Darvish, Susan Banihashemi, Mahboubeh Firouzkouhi Moghaddam, Peyman Jamali, Hassan Farbod Mofidi Tehrani, Hossein Dehghani, Mohammad Reza Raeisoon, Mehrnaz Narooie-Nejad, Javad Jamshidi, Abbas Tafakhori, Saeid Sadabadi, Farkhondeh Behjati
Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and MLPA to detect CNVs in 50 Iranian patients with autism. GTG banding and 4 different MLPA kits (2 subtelomeric and 2 autism kits) were utilized...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357199/a-comparison-between-the-effect-of-cuminum-cyminum-and-vitamin-e-on-the-level-of-leptin-paraoxonase-1-hba1c-and-oxidized-ldl-in-diabetic-patients
#5
Ghatreh Samani Keihan, Mohammad Hossein Gharib, Ali Momeni, Zohreh Hemati, Roya Sedighin
Diabetes is one of the most common metabolic diseases in the world. Vitamin E reduces protein glycation and improves insulin sensitivity, while cumin is effective in remission of diabetes. Therefore this study was designed to evaluate the effects of vitamin E and cumin essential oil, on the blood level of leptin,glycosylated hemoglobin (HbA1C) and also on lipid profile in diabetic patients.In this double blind clinical trial, 95 diabetic patients were selected and randomly dividedinto three groups.The first group received cumin essential oil in capsule form...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357198/cyclic-amp-induced-p53-destabilization-is-independent-of-creb-in-pre-b-acute-lymphoblastic-leukemia-cells
#6
Rima Manafi Shabestari, Majid Safa, Mehdi Banan, Ahmad Kazemi
Elevated cAMP levels in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cells attenuate the doxorubicin-induced p53 accumulation and protect cells against apoptosis. cAMP responsive element binding protein (CREB) is a cAMP-stimulated transcription factor that regulates genes whose deregulated expression cooperate in oncogenesis. In the present study, we investigated the role of CREB on inhibitory effect of cAMP on apoptosis and p53 accumulation in BCP-ALL NALM-6 cells. To determine whether targeting CREB can modulate the effect of cAMP on doxorubicin-induced apoptosis, we knocked down CREB in NALM-6 cells using lentiviral CREB shRNA...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/28357197/bioinformatics-analysis-reveals-genes-involved-in-the-pathogenesis-of-ameloblastoma-and-keratocystic-odontogenic-tumor
#7
Eliane Macedo Sobrinho Santos, Hércules Otacílio Santos, Ivoneth Dos Santos Dias, Sérgio Henrique Santos, Alfredo Maurício Batista de Paula, John David Feltenberger, André Luiz Sena Guimarães, Lucyana Conceição Farias
Pathogenesis of odontogenic tumors is not well known. It is important to identify genetic deregulations and molecular alterations. This study aimed to investigate, through bioinformatic analysis, the possible genes involved in the pathogenesis of ameloblastoma (AM) and keratocystic odontogenic tumor (KCOT). Genes involved in the pathogenesis of AM and KCOT were identified in GeneCards. Gene list was expanded, and the gene interactions network was mapped using the STRING software. "Weighted number of links" (WNL) was calculated to identify "leader genes" (highest WNL)...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942506/emery-dreifuss-muscular-dystrophy-a-report-of-a-large-family-with-11-affected-individuals
#8
Azadeh Ahmadifard, Javad Jamshidi, Abbas Tafakhori, Reza Mollazadeh, Zeinab Falsafi, Hossein Darvish
No abstract text is available yet for this article.
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942505/a-novel-splice-site-mutation-in-hps1-gene-is-associated-with-hermansky-pudlak-syndrome-1-hps1-in-an-iranian-family
#9
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Nasrin Alipour, Mohammad Miryounesi
No abstract text is available yet for this article.
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942504/genistein-induces-apoptosis-and-inhibits-proliferation-of-ht29-colon-cancer-cells
#10
Gholamreza Shafiee, Massoud Saidijam, Heidar Tavilani, Neda Ghasemkhani, Iraj Khodadadi
Soybean isoflavone genistein has multiple anticancer properties and its pro-apoptotic and anti-proliferative effects have been studied in different cancer cells. However, the mechanisms of action of genistein and its molecular targets on human colon cells have not been fully elucidated. Therefore, caspase-3 and p38 mitogen-activated protein kinase (p38 MAPK) as the main therapeutic targets were investigated in this study at both gene expression and protein levels in HT29 colon cancer cells. The caspase-3 and p38 MAPK gene expression levels were examined by real time PCR whereas flow cytometry technique was performed to determine their intracellular protein levels...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942503/rapid-induction-of-neural-differentiation-in-human-umbilical-cord-matrix-mesenchymal-stem-cells-by-camp-elevating-agents
#11
Atefeh Shahbazi, Majid Safa, Fatemeh Alikarami, Saeid Kargozar, Mohammad Hossein Asadi, Mohammad Taghi Joghataei, Mansoureh Soleimani
Human umbilical cord matrix (hUCM) is considered as a promising source of mesenchymal stem cells (MSCs) due to several advantages over other tissues. The potential of neural differentiation of hUCM-MSCs is of great interest in the context of treating neurodegenerative diseases. In recent years, considerable efforts have been made to establish in vitro conditions for improving the differentiation of hUCM-MSCs toward neuronal cells. In the present study, we evaluated the neural differentiation potential of hUCM-MSCs in the presence of cAMP-elevating agents forskolin and 3-isobutyl-1-methylxanthine (IBMX)...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942502/utility-of-specific-ige-to-ara-h-2-in-italian-allergic-and-tolerant-children-sensitized-to-peanut
#12
Pasquale Comberiati, Laura Colavita, Federica Minniti, Giulia Paiola, Carlo Capristo, Cristoforo Incorvaia, Diego Giampiero Peroni
Emerging data suggest that measurement of serum IgE to peanut components can be clinically helpful and more accurate than IgE to whole peanut to predict peanut allergy. Not all studies have used prospective samples, multiple components and oral challenges. Currently, there are no data on this topic involving Italian children. 32 patients (23 males; median age 9 years) with reported history for peanut allergy and evidence of peanut sensitization (skin prick test to peanut extract ≥ 3mm) have been analyzed for serum IgE to whole peanut and recombinant allergen components Ara h 1, 2, 3, 8, and 9 with Immuno CAP and completed an open oral food challenge with peanut...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942501/beneficial-effects-of-a-protein-rich-diet-on-coping-neurotrans-mitter-levels-during-ampicillin-induced-neurotoxicity-compared-to-propionic-acid-induced-autistic-biochemical-features
#13
Ramesa Shafi Bhat, Kaushal Kishore Chandrul, Afaf El-Ansary
This study examined the effects of a protein rich diet on coping neurotransmitter levels in orally administered ampicillin-induced neurotoxic rats compared with propionic acid (PA) models of autism. 40 young male western albino rats were divided into four groups. The first group served as control and received phosphate buffered saline orally; the second group serving as autistic model was treated with oral dose of PA (250 mg/kg body weight/day for 3 days); the third group was treated with the neurotoxic dose of ampicillin (50 mg/kg for three weeks); the fourth group received the same dose of ampicillin and was fed with special protein rich diets...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942500/salvia-officinalis-sage-leaf-extract-as-add-on-to-statin-therapy-in-hypercholesterolemic-type-2-diabetic-patients-a-randomized-clinical-trial
#14
Saeed Kianbakht, Farzaneh Nabati, Behrooz Abasi
The efficacy and safety of Salvia officinalis combined with statin have not been evaluated in dyslipidemic diabetes mellitus type 2 (DDMT2) so far. The plant extract antioxidant activity was determined by the DPPH radical scavenging assay. The total flavonoid, total phenolic and quercetin contents of the capsules containing the plant extract were also measured. Moreover, the effects of 2-month extract intake (500 mg capsule three times a day) as add-on to daily use of 15 mg glyburide, 2000 mg metformin and 10 mg atorvastatin on the blood levels of fasting glucose (FG), 2 h postprandial glucose (2hPPG), glycosylated hemoglobin (HbA1c), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), triglyceride, high-density lipoprotein cholesterol (HDL-C), serum aspartate aminotransferase (AST), serum alanine aminotransferase (ALT), creatinine and body mass index were studied in 50 patients and compared with the placebo group (n=50)...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942499/map3k1-may-be-a-promising-susceptibility-gene-for-type-2-diabetes-mellitus-in-an-iranian-population
#15
Shahram Torkamandi, Milad Bastami, Hamid Ghaedi, Fateme Moghadam, Reza Mirfakhraie, Mir Davood Omrani
Considering that MAPK (mitogen- activated protein kinase) signaling pathway has an important role in the progression of inflammatory cytokine secretion in type 2 diabetes mellitus (T2DM), we have recently investigated the reported genetic polymorphism from genome wide association study in MAP3K1 (mitogen-activated protein kinase kinase kinase 1) in diabetes as an important member of MAPK signaling. This study aimed to investigate the possible association of rs10461617 at the upstream of MAP3K1 gene in an Iranian case-control study with the risk of T2DM...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#16
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27478809/a-novel-pkd1-mutation-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease
#17
Javad Jamshidi, Hamed Naderi, Shaghayegh Taghavi, Babak Emamalizadeh, Hossein Darvish
No abstract text is available yet for this article.
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27478808/mutation-screening-of-brca-genes-in-10-iranian-males-with-breast-cancer
#18
Atieh Zorrieh Zahra, Sepideh Kadkhoda, Farkhondeh Behjati, Fatemeh Aghakhani Moghaddam, Azadeh Badiei, Fereidoon Sirati, Hossein Afshin Alavi, Morteza Atri, Ramesh Omranipour, Elahe Keyhani
Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The aim of this study was to screen the male patients with breast cancer for BRCA mutations as well as tissue markers of estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor (HER-2) and cytokeratin 5/6 (CK5/6). Ten Iranian males with breast cancer were selected regardless of their histologic subtypes, age and family history from patients referred to Mehrad, Day and Parsian hospitals in Tehran, Iran, during a two-year period...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27478807/expression-of-hca2-receptors-in-femoral-epiphysis-and-metaphysis-of-rats-with-dexamethasone-induced-osteoporosis
#19
Tahoora Shomali, Mohammad Kamalpour, Mehdi Fazeli, Alireza Rafati
The present study describes the changes in expression of hydroxy- carboxylic acid receptor 2 (HCA2 receptor) in femoral epiphysis and metaphysis of rats with glucocorticoid-induced osteoporosis (GIO). 16 growing male Sprauge dawley rats were randomly divided into two equal groups consisting of normal control and rats that were rendered osteoporotic by receiving 0.1 mg/kg/day dexamethasone subcutaneously. After 4 weeks, all rats were sacrificed and immediately right and left femoral bones were removed for RT-qPCR and histological examination, respectively...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27478806/the-relation-between-gaba-and-l-arginine-levels-with-some-stroke-risk-factors-in-acute-ischemic-stroke-patients
#20
Mohsen Hosinian, Durdi Qujeq, Alijan Ahmadi Ahangar
Changes in extra and intracellular neurotransmitter amino acids concentration in the early stage of acute cerebral ischemia have been reported. In this the study, serum level of gamma aminobutyric acid (GABA) and L-Arginine in acute ischemic stroke patients was assessed. 60 patients with acute ischemic stroke and sixthy healthy volunteers as a control group were assessed. Serum GABA was measured with modified enzymatic method and serum L- Arginine was measured by modified Sakaguchi method. Serum GABA level in stroke cases was lower than that of the control group...
2016: International Journal of Molecular and Cellular Medicine
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