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SCI Abstract
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Investigating the association of exon variant rs1800470 of TGF-β1 gene with the risk of stroke using a meta-analysis approach
Ischemic stroke is a type of stroke in which blood vessel blockage prevents blood supply to the brain. Transforming growth...
Egyptian Journal Of Medical Human Genetics
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Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
Serum and glucocorticoid-regulated kinase 1 (SGK1) plays a multifaceted role in cancer progression and treatment resistanc...
Egyptian Journal Of Medical Human Genetics
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A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report
A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related...
Egyptian Journal Of Medical Human Genetics
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Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases
Cardiovascular diseases (CVDs) are complex diseases determined by various environmental risk factors and genetic susceptib...
Egyptian Journal Of Medical Human Genetics
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Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia
Chronic myeloid leukemia (CML) relapse and progression after discontinuation of tyrosine kinase inhibitors (TKI) therapy i...
Egyptian Journal Of Medical Human Genetics
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Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication
Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous mani...
Egyptian Journal Of Medical Human Genetics
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Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
Presence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast canc...
Egyptian Journal Of Medical Human Genetics
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Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system....
Egyptian Journal Of Medical Human Genetics
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Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by social communication challenges and...
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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Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
Liver fibrosis is a widespread chronic liver ailment linked to substantial mortality and limited therapeutic options. An i...
Egyptian Journal Of Medical Human Genetics
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Identification of circRNA–miRNA–mRNA regulatory network associated to the autism spectrum disorder in children through integrated bioinformatics analysis
Autism spectrum disorder (ASD) is a complex neurological disability with multifactorial etiology. ASD is described by beha...
Egyptian Journal Of Medical Human Genetics
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Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
Alpha synuclein (α-synuclein) is coded by SNCA gene and found in a helical form with phospholipids or in an unfolded ...
Egyptian Journal Of Medical Human Genetics
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Challenges in blood transfusion caused by anti-Hr0: A rare case of D-- Phenotype in Asia Abstract
D–Phenotype is linked to abnormal expression of RHCE gene. Consequently, individuals with this condition may develop...
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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