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Computational analysis of non-synonymous SNPs in the human LCN2 gene
Lipocalin-2 (LCN2), a neutrophil gelatinase-associated protein, plays an important role in iron homeostasis, infection, an...
Egyptian Journal Of Medical Human Genetics
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Assessment of interleukin-6 and cathepsin-B gene expression in breast cancer women
Breast cancer (BC) is the most prevalent cancer and the leading cause of cancer-related deaths in women globally. Cysteine...
Egyptian Journal Of Medical Human Genetics
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Prognostic significance of miR 499 expression and Helicobacter pylori infection in malignant lesions of gallbladder cancer: a clinicopathological study
Gallbladder cancer (GBC) is an infrequent type of malignant neoplasm worldwide. There are a number of risk factors that in...
Egyptian Journal Of Medical Human Genetics
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A brief review of noncoding RNA
The genetic code for every organism is stored in biomolecules the deoxyribonucleic acid (DNA) and the ribonucleic acid (RN...
Egyptian Journal Of Medical Human Genetics
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Characteristics of DNMT3a mutation in acute myeloid leukemia and its prognostic implication
Acute myeloid leukemia (AML) is a clonal disorder arising from the differentiation arrest of myeloid precursor and maligna...
Egyptian Journal Of Medical Human Genetics
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Association between genetic polymorphisms and other attributing factors with lipid profiles among statin users: a cross-sectional retrospective study
Statins are well known for their efficacy to improve lipid profiles. Their efficacy varies between individuals and can be ...
Egyptian Journal Of Medical Human Genetics
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ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontop...
Egyptian Journal Of Medical Human Genetics
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Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (S...
Egyptian Journal Of Medical Human Genetics
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Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
Obesity, a multifaceted endocrine issue, is adversely affecting all age groups and is posing a significant public health c...
Egyptian Journal Of Medical Human Genetics
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A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
Melanomas are highly aggressive in nature known for metastasis and death. Melanocytes that gave rise to melanomas are neur...
Egyptian Journal Of Medical Human Genetics
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Effect of oxidative stress-related genetic variants: “Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism,” a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review
Type 2 diabetes mellitus is believed to be associated with microvascular complications which include diabetic retinopathy,...
Egyptian Journal Of Medical Human Genetics
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The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome
Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that...
Egyptian Journal Of Medical Human Genetics
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Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis
Acute ischemic stroke (AIS) is one of the leading contributors to death and disability in adults. And cuproptosis is a nov...
Egyptian Journal Of Medical Human Genetics
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B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women
B-lymphocyte-activating factor (BAFF) is a cytokine involved in regulating the development and maturation of B lymphocyte ...
Egyptian Journal Of Medical Human Genetics
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Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region
Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be asso...
Egyptian Journal Of Medical Human Genetics
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Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview
This review is a summarized study on CAD, CVD, atherosclerosis, and its association with the ABCA1 gene. Only 13 clinical ...
Egyptian Journal Of Medical Human Genetics
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Association of OXTR polymorphism (rs53576) with depression: a meta-analysis
Depression is a common psychiatric disorder that negatively affects mood and thoughts. Association studies of OXTR polymor...
Egyptian Journal Of Medical Human Genetics
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Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines
In cancer cells, the balance between proliferation and apoptosis is disturbed. There is a direct relationship between gene...
Egyptian Journal Of Medical Human Genetics
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Association of ADAM33 gene with COPD pathophysiology: a case–control study
Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global...
Egyptian Journal Of Medical Human Genetics
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Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study
In some β-thalassemia intermedia patients, hydroxyurea (HU) increases hemoglobin and HbF levels. However, HUs’ ...
Egyptian Journal Of Medical Human Genetics
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Integrative bioinformatics analysis of miRNA and mRNA expression profiles identified some potential biomarkers for breast cancer
Breast cancer is a common cause of cancer death among women with a complex and heterogeneous picture in histological, mole...
Egyptian Journal Of Medical Human Genetics
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Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis
Neurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. I...
Egyptian Journal Of Medical Human Genetics
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A meta-analysis and review on genetic mapping of type 2 diabetes mellitus in Iraq
The prevalence of type 2 diabetes mellitus (T2DM) has been increasing rapidly in Iraq over the past few decades. Identifyi...
Egyptian Journal Of Medical Human Genetics
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A glance on Immunogenetics Laboratory: from the origins to the future
Histocompatibility and Immunogenetics (H&I) laboratories have currently a significant relevance in clinical and re...
Egyptian Journal Of Medical Human Genetics
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Metformin reduces the cellular DNA repair capacity and enhances the effect of curcumin on the induction of apoptosis in AGS gastric cancer cells
Cancer results from the accumulation of mutations in critical genes, such as DNA repair genes. But these genes are a doubl...
Egyptian Journal Of Medical Human Genetics
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Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer
Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pa...
Egyptian Journal Of Medical Human Genetics
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Allelic variation in TUSC1 gene: rs1462218557 is associated with male infertility and azoospermia
Male infertility is rapidly growing, and single nucleotide polymorphism (SNP) association studies are of critical importan...
Egyptian Journal Of Medical Human Genetics
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Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers
Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic ki...
Egyptian Journal Of Medical Human Genetics
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The role of miRNA-29b1, MMP-2, MMP-9 mRNAs, and proteins in early diagnosis of HCC
Hepatocellular carcinoma (HCC) is a common, serious malignancy with a dismal prognosis. As HCC is frequently missed in its...
Egyptian Journal Of Medical Human Genetics
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Higher incidence of co-expression of BCR-ABL fusion transcripts in an Eastern Indian population
Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, caused by a balanced reciprocal translocation (t(9...
Egyptian Journal Of Medical Human Genetics
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