نتایج جستجو برای: slc29a3 gene mutation

تعداد نتایج: 1284717  

خاتمی, مهری, قانعی یخدان, زهرا,

Introduction: The Brugada syndrome (BrS) belongs to cardiac arrhythmia disorders that is seen on the echocardiogram bands and is a significant cause of sudden death in young adults. At the molecular level, mechanisms that contribute to BrS are mutations in genes that encode for ion channels. It has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level. This...

Journal: :International journal of medical science and clinical research studies 2023

Talking about thyroid carcinomas leaves a fairly wide slope, in which it should be considered not only the variants and their clinical frequency, but mutant genetic finding that gives preamble to malignancy, its variability, histological as well prognosis. It is important note most frequent carcinoma population papillary, with an index greater than 80% of all cases, being rare pediatrics. The p...

Alihossein Saberi, Alireza Sedaghat, Ebtesam Zargan Nezhad, Gholamreza Shariati, Hamid Galehdari, Mohammad Hamid,

Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...

Fatemeh Amraei, Hedayatollah Roshanfekr Jamal Fayazi Mohammad Bojarpour

Objective: Identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. Methods: Najdi Cattle is the most prominent breeds in Khuzestan province. To do this plan in Shoushtar Najdi Cattle Station, blood samples were taken from 15 Najdi Cattles. DNA was extracted from wh...

Estarabadi Ali Rajabi Firooz Alireza Kamyab Kambiz Khatami Alireza Khorshid Hamidreza Khorram Kohsari Laleh Montaser Noorian Negin

Background: In 10-30% of the cases with sarcoidosis, skin lesions appear solely without any systemic signs or symptoms. BTNL2 gene, which is a member of the immunoglobulin gene super family and is associated with CD86 and CD80 co-stimulatory receptors, is identified to play an important role in the establishment of sarcoidosis. We aimed to evaluate the role of this gene in patients with skin sa...

Journal: :Wahana peternakan 2023

The purpose of this study was to identify Follicle Stimulating Hormone (FSH) gene mutation West Sumatera Pitalah ducks. This used blood samples from 50 ducks (5 males and 45 females). Extraction analized by Kit iNtRON Biotechnology amplification DNA extraction the primer with fragmen target 318 bp. Sequencing 1st Base Singapore product Dnastar. Based on result is ducks.
 Key Words: FSH, Ge...

Background: Cholestatic disorders are divided in the extra and intra-hepatic that created due to the severe liver diseases. ABCB11 encodes the bile salt export pump and this gene is mutated in several forms of intrahepatic cholestasis. So far, some molecular features of this gene was studies.Objective: Using a developed web server, we identified high number of rare codons in this gene, and four...

ژورنال: افق دانش 2020

Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The ...

Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...

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. ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید