اولادنبی, مرتضی
[ 1 ] - گزارش یک مورد فیبرودیسپلازی استخوانی شونده پیشرونده
فیبرودیسپلازی استخوانی شونده پیشرونده بیماری بسیار نادر با توارث اتوزمال غالب، شدت بیان متغیر و نفوذ کامل است. میزان شیوع آن یک در دو میلیون نفر تخمین زده می‌شود و توسط جهش در ژن ACVR1 که کد کننده رسپتور نوع 1 پروتئین مورفوژنیک استخوانی است؛ ایجاد می‌گردد. تاکنون 15 جهش در این ژن گزارش شده است. اکثریت موارد این بیماری ناشی از جهش‌های جدید است که به صورت اسپورادیک نمایان می‌شوند. در این مقاله یک...
[ 2 ] - گزارش یک خانواده با چندین مبتلا به نوروفیبروماتوز نوع یک در سه نسل متوالی
نوروفیبروماتوز نوع یک با شیوع یک در 3500 شایع‌ترین اختلال ژنتیکی پوستی عصبی است که به علت جهش در ژن NF1 ایجاد می‌گردد. این ژن حدود 350 کیلو جفت باز اندازه دارد و تاکنون حدود 2434 جهش در این ژن گزارش شده است. این ژن بر روی کروموزوم 17 قرار داشته و پروتئین نوروفیبرومین را کد می‌کند. نفوذ این ژن نزدیک به 100 درصد است و در حال حاضر با استفاده از روش‌های جدید تعیین توالی چالش اصلی بررسی ژنتیکی این ژ...
[ 3 ] - Lack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population
Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...
[ 4 ] - Hereditary Hearing Loss and Consanguinity in Turkmen Population of Iran: A Retrospective Study
Background: Our research focuses on different dimensions of families of Turkmen population of Iran with two or more than two affected members. A complete clinical ear test was conducted on them. It was aimed to find families with the highest chance of hereditary hearing impairment among siblings and also existence of consanguinity among their parents. <em...
[ 5 ] - Hydatid Cyst Killing Mechanism of Ziziphora tenuior by Inducing Apoptosis via Mitochondrial Intrinsic Pathway
Background and objectives: Ziziphora tenuior is considered as an appropriate protoscolicidal agent yet the mechanism of such effect is not known so far. The aim of this study was to evaluate the apoptotic effect of Z. tenuior extract on protoscolices of hydatid cyst. Methods: Protoscolices were collected aseptically and the Bradford test was e...
[ 6 ] - Evaluation of the Efficacy of Lentiviral Vectors in Gene Therapy of Beta-thalassemia Patients: A Systematic Review
Background Beta thalassemiais a genetic blood abnormality identified through mutations, which reduce the synthesis of the ß-globin chain. Gene therapy through Lentiviral vectors have cured many of genetic disorders. The purpose of this study was to investigate the efficacy of lentiviral vectors in treatment of ß-thalassemia a...
[ 7 ] - NF1 Mutations Analysis Using Whole Exome Sequencing Technique in 11 Unrelated Iranian Families with Neurofibromatosis Type 1
Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...
[ 8 ] - Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
[ 9 ] - Transfusion Related Adverse Effects on Beta-Thalassemia Major and New Therapeutic Approaches: A Review Study
Thalassemia is one of the most common genetic disorders, worldwide.Beta-Thalassemia Major (BTM) is the most severe type, which reduces lifeexpectancy and quality of life. In this study, we searched the related keywords to subject from 1996-2019 in the Medline and Web of Science databases, therefore found 250 articles. Moreover, we categorized them into the studies on blood transfusions in...
[ 10 ] - Genetic Counseling for Families with Sporadic Intellectual Disability in North of Iran: A Retrospective Study
Background Intellectual Disability (ID) is a heterogeneous disorder, in which at least 600 genes participate. The present study aimed to identify the effect of genetic counseling and consanguinity marriage in Iranian families with sporadic mental disability. Materials and Methods: In th...
نویسندگان همکار