نتایج جستجو برای: exon gene

تعداد نتایج: 1147509  

ژورنال: پوست و زیبایی 2010
طالب, شایان‌دخت, فیروز, علیرضا, منتصرکوهساری, لاله, کامیاب‌حصاری, کامبیز,

Background and Aim: Sarcoidosis is a non-caseous granulomatous disease that can involve several organs such as lung, kidney, liver, heart and skin. In systemic sarcoidosis, skin lesions occur in 20-35% of patients. Cutaneous sarcoidosis with no systemic involvement was found in about 25% of patients. Mutation within Butyrophilin-like 2 (BTNL2) gene, rs2076530 was reported in systemic sarcoidosi...

Previous studies have indicated that in all land plants examined to date, the chloroplast gene trnLUAA isinterrupted by a single group I intron ranging from 250 to over 1400 bp. The parasitic Epifagus virginiana haslost, however, the entire gene. We report that the intron is missing from the chloroplast genome of twoarctic species of the legume genus Hedysarum (H. alpinum, H. ...

Elham Parsi Mehr, Hanieh Zare, Hossein Najmabadi, Maryam Beheshtian, Marzieh Mohseni, Mohammad Razzaghmanesh,

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Objective: Diacylglycerol acyltransferase 1 is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The objective of this project is to check out the polymorphism at the exon 8 region of DGAT1 gene using PCR-SSCP technique in Iranian water buffaloes (Bubalus bubalis). Recent activities have shown that a significant association between lysine at amino acid positi...

A. Derakhshandeh H. Atashi, M. Dadpasand M. M. Ghahramani Seno Z. Hadi

The aim of this study was to investigate the potential association between growth hormone GH/AluI and growth hormone receptor GHR/AluI polymorphisms with milk yield and reproductive performances in Holstein dairy cows in Iran. Blood samples of 150 Holstein cows were collected and their genomic DNA was extracted using Gene-Fanavaran DNA extracting kit. Fragments of the 428 bp of exon 5 growth ho...

Journal: :PLoS ONE 2006
Yi Xing Karen Kapur Wing Hung Wong

BACKGROUND There is great current interest in developing microarray platforms for measuring mRNA abundance at both gene level and exon level. The Affymetrix Exon Array is a new high-density gene expression microarray platform, with over six million probes targeting all annotated and predicted exons in a genome. An important question for the analysis of exon array data is how to compute overall ...

Journal: :Journal of pediatric genetics 2021

Abstract Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal caused by heterozygous mutations in the COL2A1 gene 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, trunk, and genu valgum. Radiological examination showed platyspondyly, irregular metaphyseal r...

Background: Most studies have shown that there are association between the development and malignancy of brain tumors and tumor suppressor genes and oncogenes. The aim of this project was to investigate the P53 gene mutations in exon 8 in patients with astrocytoma type’s brain tumor. Methods: In this present survey, The DNA isolation from 30 samples of brain tissue was done by phenol-c...

زالی, ابوالفضل, عزیزی, زهرا, مرادی شهربابک, حسین, مرادی شهربابک, محمد,

Diacylglycerol transferase is a microsome enzyme that plays an important role in glycerol lipid metabolism. The acyl CoA-diacylglycerol- acyltransferase 1 (DGAT1) is considered to be the key enzyme in controlling the synthesis of triglycerides in adipocytes. This enzyme catalyzes the final step of triglyceride synthesis (transform triacylglycerol (DAG) into triacylglycerol (TAG). The present st...

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