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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Tue Oct 10 2023
Journal Name
Current Trends In Biotechnology And Pharmacy
In silico Molecular Docking and Scrutinizing Druglike Properties of Selected Phytoconstituents Against TAK1, Xanthin Oxidase, and IL-1 β Targets in Gouty Arthritis
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Publication Date
Sat Aug 09 2025
Journal Name
Oxidation Communications
SYNTHESIS AND SPECTRAL CHARACTERISATION, MOLECULAR DOCKING, AND ANTIOXIDANT ACTIVITIES OF NOVEL METAL COMPLEXES AND THEIR NANOCOMPLEXES DERIVED FROM AN ISATIN-BASED SCHIFF BASE
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Publication Date
Fri Feb 25 2022
Journal Name
Egyptian Journal Of Chemistry
Design, molecular docking, synthesis, and in vitro pharmacological evaluation of biomolecules-histone deacetylase inhibitors conjugates with carbohydrazide as a novel zinc-binding group
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Publication Date
Sun Oct 01 2023
Journal Name
Virology
Transient expression of cauliflower mosaic virus (CaMV) P6-GFP complements a defective CaMV replicon to facilitate viral gene expression, replication and virion formation
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Over the past decades, several studies have examined the subcellular localization of the cauliflower mosaic virus (CaMV) P6 protein by tagging it with GFP (P6-GFP). These investigations have been essential in the development of models for inclusion body formation, nuclear transport, and microfilament-associated intracellular movement of P6 inclusion bodies for delivery of virions to plasmodesmata. Although it was shown early on that the translational transactivation function of P6-GFP was comparable to wild type P6, it has not been possible to incorporate a P6-GFP gene into an infectious clone of CaMV. Consequently, it has not been possible to formally prove that a P6-GFP fusion is comparable in function to the unmodified P6 protein. Here w

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Publication Date
Mon Jan 01 2024
Journal Name
Pakistan Journal Of Life And Social Sciences (pjlss)
Antibacterial and Antibiofilm Activity of Phenolic Compounds Extracted From Camellia Sinensis And Evaluate The Effect On The Gene Expression (Clfa) In Staphylococcus Aureus
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Publication Date
Thu Oct 01 2015
Journal Name
Al–bahith Al–a'alami
New Media and Political Awareness among Young People
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This study seeks to answer urgent questions about the role of new media that have emerged recently, such as the Internet and social networking sites and information services through mobile and others to increase awareness among young people, especially university students. during a field study that took place on a sample of students in the Department of Media at the University of Petra Kingdom of Jordan during the second semester in 2013 in the study the researcher finds increased attention and follow-up by young people for many of the world events and regional and local communities through exposure to a number of new media; in the forefront of the Internet and increase the level of awareness and interests young people do many of the eve

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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Episiotomy preventing approaches among midwives in Kurdistan region
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Objectives: This study aimed to findout approaches which used by midwives for avoiding episiotomy and assess their knowledge regarding complications of episiotomy in three main cities of Kurdistan region. Methodology: A cross-sectional study was conducted between 1st January and 15th April 2014 in the three biggest maternity teaching hospitals. The study population included all the midwives (n=53) working in delivery rooms. Data were collected through interview with midwives. Results: The Midwives stated the followings as complications of episiotomy: tear into the rectum muscle or rectum itself (52.8%), bleedi

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Publication Date
Wed Jan 09 2019
Journal Name
Journal Of The College Of Education For Women
The Attitudes Toward Extremism Among University Students Baghdad
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The Present study aims to investigate the attitude toward extremism of the university student and to find differences with three variables, gender field of study ,grade), For the purposes of the study on(3) level scale of the attitude towards extremism , and subjected to validity and credibility ,the scale was designed for ( 590) students sample (237) males ,and (357) females Results shown that students has a mild attitude towards extremism compared with the average of the scale attitude towards Religious extremism occupied the number one level ,followed by social extremism and lastly political extremism in Results also shown different in gender (males ,females) with the males having the granter attitude towards extremism as for the othe

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Behavioral Disturbances among School Children in Baghdad Province
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Background: Mental health of children has recently been
receiving increased attention in many parts of the world.
However, such attention has been lacking in developing
countries, particularly in the form of systematic research
Aim: The study aimed to find out the frequency of
behavior disorders in a sample of primary school children
and the different social and demographic factors that might
be related to this disorder.
Methods: The study is a cross-sectional one that included
918 primary school pupils in both urban and rural areas of
Baghdad. Rutter's questionnaire teacher's version was used
to assess the pupils, and the demographic data was obtained
by special questionnaire sent to the parents to be

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Publication Date
Mon Jan 02 2017
Journal Name
Journal Of Educational And Psychological Researches
Test anxiety and cognitive representation among university students
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This study was conducted to determine the relationship between test anxiety and cognitive representation among university students. To this end, 152 student (male, female) were chosen randomly from scientific and social departments to fill out the questionnaires of test anxiety and cognitive representation. The researcher utilized Independent Samples T-Test, Pearson product-moment correlation coefficient, Cronbach's alpha and T-Test in his study. The result revealed that there were negative and a weak correlation between test anxiety and cognitive representation among university students.

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