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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Sun Mar 01 2026
Journal Name
Journal Of Molecular Structure
Synthesis, characterization, DFT calculations, molecular docking, ADMET analysis and biological activity of Schiff base metal complexes against colon cancer cells
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Publication Date
Sun Mar 01 2026
Journal Name
Journal Of Molecular Structure
Synthesis, characterization, DFT calculations, molecular docking, ADMET analysis and biological activity of Schiff base metal complexes against colon cancer cells
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Publication Date
Sat Jan 03 2026
Journal Name
Journal Of Molecular Structure
Synthesis, characterization, DFT calculations, molecular docking, ADMET analysis and biological activity of Schiff base metal complexes against colon cancer cells
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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Wilson's Disease; Clinical Presentations among Patients Attending Gastroenterology Clinic/ Baghdad Teaching Hospital
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Background:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data col

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Publication Date
Sat Dec 24 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Effect of TNF-Alpha Gene Polymorphisms At -376 G/A, -806 C/T, and -1031 T/C on The Likelihood of Becoming a Non-Responder to Etanercept in A Sample of Iraqi Rheumatoid Arthritis Patients
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Tumor necrosis factor-alpha (TNF-α) antagonists’ therapy are expensive and has a non-responsive rate between 30% to 40% in rheumatoid arthritis patients. Genetic variation plays a vital role in the responsiveness to this type of therapy.The aim of this study is to investigate if the presence of genetic polymorphism in the TNF-α gene promoter region at locations -376 G/A (rs1800750), -806 C/T (rs4248158), and -1031 T/C (rs1799964) affects rheumatoid arthritis patient's tendency to be a non-responder to etanercept.

Eighty RA patients on etanercept (ETN) for at least six months were recruited from the Rheumatology Unit at Baghdad Teaching Hospital. Based on The European League Against Rheumatism response (EULAR) criteria, patient

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Publication Date
Fri Jan 29 2021
Journal Name
Research Journal Of Pharmacy And Technologythis Link Is Disabled.
Exploration of a new fluoride resistance gene (Fram gene) in oral streptococcus mutans maw
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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Biomechanical Science And Engineering
GENETIC ANALYSIS OF INTERLEUKIN 37GENE SINGLE NUCLEOTIDE POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
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Background: Alopecia areata(AA) is a common autoimmune disease that causes hair loss without scarring. It occurs as a result of T-helper 1 (Th1) and Th17 cells attacking the anagen hair follicles. Genetic factors play a role in the occurrence of infection, which stimulates the production of pro and anti-inflammatory interleukins. Polymorphisms of IL-37 play a role in autoimmune diseases. However, IL37 single nucleotide polymorphisms(SNP) have not been identified in patients with AA. Therefore, this study aimed to reveal the IL37 gene SNP and its relationship to AA. Methods: Genotyping of IL-37 gene single nucleotide polymorphisms SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method was done following

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Scopus
Publication Date
Tue Jan 01 2019
Journal Name
Opcion
Vocabulary acquisition through viber emoticons messaging app among Iraqi students
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Rapid increase in the use of smart mobile phones and the proliferation of social media networking programs such as facebook, tweeter, whatsapp and viber etc. affects the learning attitude of second language. This research aims to investigate the effects of emoticons provided by Viber application on Iraqi students in context of vocabulary acquisition. 60 Iraqi students are randomly selected from X international school with the average of age 7 to 9 years. All the subjects are given 50 English words for five weeks, 25 English words were written on papers and the rest Viber stickers laden with English words. The results show that students recognize the vocabularies given by Viber stickers better than the written vocabulary. In general, student

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Publication Date
Fri Nov 01 2013
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Lichen planopilaris is a common scarring alopecia among Iraqi population
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KE Sharquie, AA Noaimi, AF Hameed, Journal of Cosmetics, Dermatological Sciences and Applications, 2013 - Cited by 11

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Publication Date
Wed Sep 04 2024
Journal Name
F1000research
Posterior palatal seal recording: fact and reasons among Iraqi dentists
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Abstract* Backgrounds The retention of the maxillary complete denture may be influenced by adequate recording in the patient’s mouth, marking, and carving of the post-dam on the maxillary cast. Failure to do so may lead to loss of retention. Successful denture construction with patient’s comfort could be achieved by effective methods of recording, marking, and carving of the post-dam. The aim of the study was to assess Iraqi dentists in their knowledge and application of the post-dam in maxillary complete dentures. Methods Questionnaires were distributed randomly through online Google Forms and 118 Iraqi dentists with different academic degree participated in the study. A multinomial logistic regression model was also used to ass

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