حمید گله داری
استاد گروه ژنتیک.گروه ژنتیک پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی جندی شاپور اهواز، اهواز، ایران.
[ 1 ] - بررسی نقش مارکر های پلی مورفیک BCL11A و HBS1L-MYB در افزایش هموگلوبین جنینی افراد ناقل و مبتلا به تالاسمی بتا در جنوب ایران- خوزستان
زمینه و هدف: افزایش بیان هموگلوبین جنینی در برخی بیماران تالاسمی بتا و داسی شکل منجر به بهبود علائم بیماری میگردد. شناخت عواملی که موجب افزایش مجدد هموگلوبین جنینی میشوند بسیار مهم است. توجیه مولکولی افزایش هموگلوبین جنینی را میتوان به ژنهایی نسبت داد که نقش تنظیمی در بیان ژنهای خوشه ی ژنی بتاگلوبین دارند. هدف از این تحقیق بررسی ارتباط پلیمورفیسم شایع مرتبط با افزایش هموگ...
[ 2 ] - تهیه cDNA از mRNA ژن OD1 استخراج شده از بافت غدة زهری عقرب ایرانی ادونتوبوتوسدوریه (Odonthobuthus doriae)
زمینه و هدف: در اکثر نقاط ایران، بهویژه مناطق مرکزی، جنوب و شمال شرقی، عقربزدگی یک مشکل بهداشتی جدی محسوب میشود. بیشتر این گزش ها، ناشی از عقرب‌های خانواده بوتیده (Buthidae Family) می‌باشد. زهر عقرب دارای ترکیبات فعال بیولوژیک مختلف از جمله سموم عصبی (نروتوکسین) می‌باشد که هر کدام توسط ژن مخصوص به خود کد میشوند. هدف از انجام این پژوهش تکثیر cDNA کد کنندة یک نروتوکسین شبه آل...
[ 3 ] - Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...
[ 4 ] - Additive effect of MTHFR and GRIN1 genetic polymorphisms on the risk of schizophrenia
Schizophrenia is a complex disorder with polygenic inheritance. The MTHFR 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 MTHFR gene lead to the decreased activity of the methylenetetrahydrofolate reductase enzyme which may have significant effect on developing schizophrenia. W...
[ 5 ] - A Novel Defensin-Like Peptide Associated with Two Other New Cationic Antimicrobial Peptides in Transcriptome of the Iranian Scorpion Venom
Introduction: Scorpion venom is a source of bioactive peptides, and some antimicrobial peptides (AMPs) have been found in the venom gland of scorpions. Therefore, the discovery of new anti-infective agents is an essential need to overcome the problem of antibiotic resistance of clinical isolates. Here, we describe three new cationic AMPs, including meuVAP-6, meuAP-18-1, and meuPep34 from the ve...
[ 6 ] - SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
[ 7 ] - بررسی جهش های شایع ژن KRAS در بیماران مبتلا به سرطان کلورکتال تک گیر در استان خوزستان
سرطان کلورکتال (CRC) یکی از بدخیمی های شایع در جهان است. جهش های KRAS یکی از وقایع اولیه در تکوین و پیشرفت CRC می باشند کدون های 12 و 13 از اگزون شماره 1، نقاط داغ جهش در این ژن هستند. در این بررسی فراوانی وقوع جهش های کدون 12 و 13 را در بیماران خوزستانیِ مبتلا به سرطان کلورکتال تک گیر (SCRC) بررسی گردید و با میزان آن در سایر نواحی ایران و نیز در دیگر کشورها مقایسه شد. DNA ژنومی از بافت های تومو...
[ 8 ] - First transcriptome analysis of Iranian scorpion, Mesobuthus eupeus venom gland
Scorpions are generally an important source of bioactive components, including toxins and other small peptides as attractive molecules for new drug development. Mesobuthus eupeus, from medically important and widely distributed Buthidae family, is the most abundant species in Iran. Researchers are interesting on the gland of this scorpion due to the complexity of its venom. Here, we have analyz...
[ 9 ] - Time dependent difference effects of MgO and ZnO nanoparticles on the serum and hippocampus Mg2+, Zn2+, Fe2+/3+ and Ca2+ levels in the stressed rats
Objective(s): Stress is a physiological response that can disrupt body elements homeostasis and lead to neurophysiological abnormality. This study has been investigated the serum and hippocampus Mg2+, Zn2+, Fe2+/3+ and Ca2+ level changes in two times after MgO NPs and ZnO NPs single injection following restraint stress in the male rat. Methods: Animals were divided into two main groups that eac...
[ 10 ] - First transcriptome analysis of Iranian scorpion, Mesobuthus eupeus venom gland
Scorpions are generally an important source of bioactive components, including toxins and other small peptides as attractive molecules for new drug development. Mesobuthus eupeus, from medically important and widely distributed Buthidae family, is the most abundant species in Iran. Researchers are interesting on the gland of this scorpion due to the complexity of its venom. Here, we have analyz...
[ 11 ] - Three new scorpion chloride channel toxins as potential anti-cancer drugs: Computational prediction of the interactions with hMMP-2 by docking and Steered Molecular Dynamics Simulations
Scorpion venom is a rich source of toxins which have great potential to develop new therapeutic agents. Scorpion chloride channel toxins (ClTxs), such as Chlorotoxin selectively inhibit human Matrix Methaloproteinase-2 (hMMP-2). The inhibitors of hMMP-2 have potential use in cancer therapy. Three new ClTxs, meuCl14, meuCl15 and meuCl16, derived from the venom transcriptome of Iranian scorpion, ...
[ 12 ] - Three new scorpion chloride channel toxins as potential anti-cancer drugs: Computational prediction of the interactions with hMMP-2 by docking and Steered Molecular Dynamics Simulations
Scorpion venom is a rich source of toxins which have great potential to develop new therapeutic agents. Scorpion chloride channel toxins (ClTxs), such as Chlorotoxin selectively inhibit human Matrix Methaloproteinase-2 (hMMP-2). The inhibitors of hMMP-2 have potential use in cancer therapy. Three new ClTxs, meuCl14, meuCl15 and meuCl16, derived from the venom transcriptome of Iranian scorpion, ...
[ 13 ] - Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
[ 14 ] - The Effect of Sialic Acid on miR-320a and let-7e Expression in Human Glial Cell Line
Introduction: Sialic acid plays pivotal roles in various critical physiological events at molecular and cellular levels and also pathological processes. Changes in sialic acid concentration are observed in many pathological processes; for example, there are some available data on the evaluated level of sialic acid and neurodegenerative prevalence. It can be proposed that sialic acid can play a ...
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