نتایج جستجو برای: genetic mutation

تعداد نتایج: 825720  

Ali Hossein Saberi, Atousa Hafizi, Gholamreza Shariati, Hamid Galehdari, Mohammad Hamid, Saeid Reza Khatami,

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

Journal: :مجله دانشگاه علوم پزشکی کرمانشاه 0
rahim golmohamadi department of anatomical medicine, sabzevar university of medical sciences mehdi nikbakht department of anatomical medicine, isfahan university of medical sciences

introduction: colorectal cancer (crc) is one of the most prevalent cancers in the world. genetic disorders and dietary habits play a part in crc. the most important cancer suppressor gene is p53. different mutations rates in 7th exon of p53 gene are reported in different areas  which may have a relationship with prognosis of crc. this study examines the relationship between mutation in 7th exon...

Voet Th

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...

Amiri Fahliani, R., kavoosi, B., Masoumi Asl, A., Razmi, H.,

Genetic diversity in strawberry is low due to its asexual propagation. One method of increasing genetic diversity, as an important tool in plant breeding, is the use of gamma rays to induce mutation. In order to determine the appropriate dosage of gamma irradiation for genetic diversity creation by mutation in strawberry, Kurdistan cultivar, and to study the influence of various doses of gamma ...

Hossein Ayatollahi, Mahdi Balali Mood, Mahshid Jalili, Mohammad Hadi Sadeghian, Mohammad Hosein Basharati, Mohammad Reza Keramati ,

Background: Sulfur mustard was the most widely applied chemical warfare agent by the Iraqi army in Iran–Iraq war (1983-1988). Considering the role of sulfur mustard toxicity in hematopoietic neoplasms and also new role of JAK2 mutation in these neoplasms, we assessed this mutation and delayed hematologic complications in veterans exposed to sulfur mustard. Methods: This case control st...

Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...

جلالی , حسین, علی اصغریان , آیلی, نجاتی فرد , سیده نرگس, هاشمی سوته , سیدمحمدباقر, کرمی , حسین, کوثریان , مهرنوش,

Background and purpose: Mutation in factor V Leiden (R506Q), mutation of G20210Â in prothrombin and mutation of Ç667T in methylenetetrahydrofolate reductase (MTFHR) are part of genetic variant that increase the risk of thrombosis. The purpose of this study was to define the frequencies of three risk factors among thalassaemia major and thalassaemia intermedia compared with the normal subjects...

Journal: :international journal of hematology-oncology and stem cell research 0
marjan yaghmaie medical genetics department, faculty of medical sciences, tarbiat modares university, tehran, iran hossein mozdarani medical genetics department, faculty of medical sciences, tarbiat modares university, tehran, iran kamran alimoghaddam hematology, oncology and stem cell transplantation research center, shariati hospital, tehran university, tehran, iran ardeshir ghavamzadeh hematology, oncology and stem cell transplantation research center, shariati hospital, tehran university, tehran, iran seyed hamiollah ghaffari hematology, oncology and stem cell transplantation research center, shariati hospital, tehran university, tehran, iran

introduction: the secondary genetic changes other than the pml-rara fusion gene may contribute to the acute promyelocytic leukemogenesis. chromosomal alterations and mutation of flt3 tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia (aml). however, the prognostic significance of flt3 mutations in acute promyelocytic leukemia (apl) is not firmly established....

Journal: :iranian biomedical journal 0
آتوسا حفیظی atousa hafizi سعیدرضا خاتمی saeid reza khatami حمید گله داری hamid galehdari غلامرضا شریعتی gholamreza shariati علی حسین صابری ali hossein saberi محمد حمید mohammad hamid

introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...

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