Egyptian Journal of Medical Human Genetics is the official journal of The Egyptian Societies of Medical Human Genetics.
Articles
Page 2 of 11
-
Citation: Egyptian Journal of Medical Human Genetics 2024 25:25
-
A novel N7-methylguanosine-associated feature predicts prognosis in gastric cancer
Despite substantial advancements in gastric cancer treatment in recent years, our understanding of the disease’s pathophysiology and progression processes remains limited, and the prognosis for gastric cancer ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:24 -
System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals
Turner syndrome (TS) is a rare disorder associated either with complete or partial loss of one X chromosome in women. The information on the genotype–phenotype relationship in TS is inadequate. Comparing the h...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:23 -
Association of SLC30A8 rs13266634 gene polymorphism with type 2 diabetes mellitus (T2DM) in a population of Noakhali, Bangladesh: a case–control study
Type 2 diabetes mellitus (T2DM) is considered to be a polygenic disorder that emerges as a result of complicated gene-environment interactions. Several investigations revealed that SLC30A8 rs13266634 polymorphism...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:22 -
Emanuel syndrome due to unusual pattern
The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities.
Citation: Egyptian Journal of Medical Human Genetics 2024 25:21 -
Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!
Anterior segment dysgenesis (ASD) disorders comprises of spectrum of developmental conditions affecting the structures of angle of anterior chamber including cornea, iris, and lens. These conditions are charac...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:20 -
Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease
Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ pathway in lymphocytes. CARD11 deficiency can be inherited in either auto...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:19 -
BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients
Breast cancer (BC) is the most common female cancers in many countries including Syria. Familial breast cancer or previous family cancer history are considered significant risk factors. Therefore, detecting th...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:18 -
Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients
The present study was undertaken to examine the role of IL-4 (− 590 C/T) (rs2243250) and IL-6 (− 174G/C) (rs1800795) polymorphism and the serum levels of IL-4 and IL-6 in chronic kidney disease (CKD).
Citation: Egyptian Journal of Medical Human Genetics 2024 25:17 -
Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients
Isolated growth hormone deficiency (IGHD) is a hereditary disorder that causes significant short stature. GHD has a reported incidence of 1/4000–1/10,000 births. It is caused by mutations in the major somatotr...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:16 -
Correction: Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis
Citation: Egyptian Journal of Medical Human Genetics 2024 25:15 -
DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population
Cellular and molecular changes occur during aging, decreasing organ function. The aging process was measured by several biomarkers, including DNA methylation (DNAm), an epigenetic change regulating gene expres...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:14 -
Evaluation of the effects of curcumin on chronic obstructive pulmonary disease with a bio-computational approach
According to the increasing trend of COPD, the timely diagnosis and treatment of the disease can reduce the high costs to the health systems. Therefore, by biological calculation methods, signaling pathways an...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:13 -
Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context
Apoptosis, also known as the programmed death of cells, is responsible for maintaining the homeostasis of tissues, and this function is carried out by caspases. The process of apoptosis is carried out via two ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:12 -
Altered expression of long non-coding RNAs NRON and SNHG11 in patients with ischemic stroke
Long non-coding RNAs, known as LncRNAs, have demonstrated a robust association with the pathogenesis of stroke. NRON and SNHG are among the most extensively studied lncRNAs in the context of atherosclerosis an...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:11 -
Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality
COVID-19 has its life-threatening complications more pronounced in people with underlying health conditions such as diabetes, cardiovascular disease and kidney disease. Inhibition of the sodiumglucose cotransp...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:10 -
CD36 gene variant rs1761667(G/A) as a biomarker in obese type 2 diabetes mellitus cases
Several reports discussed a connection between CD36 genotypes associated with obesity, influencing the development of Type 2 diabetes mellitus (T2DM). Therefore, this study examines the prognostic value of CD3...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:9 -
In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population
Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpre...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:8 -
Osteogenesis imperfecta type XVII: expansion of the phenotype
Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous mi...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:7 -
Association of p53 codon 72 polymorphism with weight and metabolic diseases in a Central Indian population
Metabolic dysregulation leading to diabetes is a major public health concern in India. While evidence has pointed to a role for genetic factors, there is still limited knowledge regarding the specific variants...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:6 -
MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea
Abnormal folate metabolism is a risk factor for DNA hypomethylation and chromosomal nondisjunction. MTHFR is a candidate gene for folliculogenesis and ovarian development. In the present study, we aimed to inv...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:5 -
Diagnostic and prognostic value of single nucleotide polymorphisms in autophagy-related genes (ATG) among Egyptian patients with breast cancer disease
Autophagy-related genes (ATGs), associated with autophagy, contribute to the pathogenesis of many illnesses, including cancer. ATGs’ role in breast cancer (BC) is still under investigation. Therefore, the curr...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:4 -
Pan-cancer analysis identified IGF2BP2 as a potential prognostic biomarker for multiple tumor types
Insulin-like growth factor 2 (IGF2) mRNA-binding proteins 2 (IGF2BP2/IMP2), an RNA-binding protein encoded by the IGF2BP2 gene, exerts its influence across diverse pathological pathways. While accumulating evi...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:3 -
The significance of miRNA-191-5P and miRNA-24-3P as novel biomarkers for multiple sclerosis: a case–control study
Multiple sclerosis (MS) is a long-term disease that can lead to disability. microRNAs (miRNA) can provide noninvasive markers allowing more frequent and easy testing in MS. Treatment methods based on manipulat...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:2 -
Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report
The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megalobl...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:1 -
Evaluation of the expression of the long non-coding RNAs, LOWEG and MINCR, and their clinical significance in human gastric cancer
Gastric cancer (GC) is currently the fifth most common malignancy. Accumulating evidence has recently revealed that maladjustments of diverse long non-coding RNAs may play key roles in multiple genetic and epi...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:87 -
Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study
Thalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalasse...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:86 -
STAT3 gene polymorphisms and susceptibility to breast cancer in the Moroccan population
Breast cancer is a complex disease due to its extremely complicated and varied etiology. It is found to be linked to improper transcription factor activation that interferes with normal breast development. Amo...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:85 -
Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis
Developed countries have a high mortality rate from atherosclerosis and are frequently linked to inflammation and other blood lipid disorders. MicroRNA expression can affect atherosclerotic plaque formation, l...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:84 -
A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontoge...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:83 -
Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion
The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skill...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:82 -
Germline rad 50 mutation in a case with synchronous breast and kidney cancer: a rare case
Breast cancer has been reported to occur synchronous with ovarian, endometrial and even colon cancers. A synchronous renal cancer is rare. And its association with RAD 50 mutation is not known.
Citation: Egyptian Journal of Medical Human Genetics 2023 24:81 -
Evaluation of therapeutic potentials of some bioactive compounds in selected African plants targeting main protease (Mpro) in SARS-CoV-2: a molecular docking study
Coronavirus disease 2019 (COVID-19) is an infectious disease brought on by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a global treat in early 2020. Despite worldwide research proving dif...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:80 -
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, nephropathy, and neuropathy. Oxidative stress plays a predominant role in the pathogen...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:79 -
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 have been linked to progression to advanced phase. Genomic study linked amplified gene...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:78 -
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 novel type of cell death. Yet, its role in AIS is still unknown.
Citation: Egyptian Journal of Medical Human Genetics 2023 24:77 -
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 and has been shown to be up-regulated in patients with Graves’ disease (GD). However, t...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:76 -
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 polymorphisms with depression have been performed repeatedly. However, the results of these studi...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:75 -
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 as well as epidemiological and peer-reviewed research papers published in the associated f...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:74 -
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 associated with different factors including maternal, fetal, and environmental. However, th...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:73 -
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’ effects molecular mechanism is still unclear.
Citation: Egyptian Journal of Medical Human Genetics 2023 24:72 -
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 increase in the prevalence of COPD, research on the genetic factors that predispose to...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:71 -
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 expression and the process of apoptosis. The two genes involved in apoptosis are Bax and
Citation: Egyptian Journal of Medical Human Genetics 2023 24:70 -
Association of IL-1β rs16944 and IL-1RN rs2234663 gene polymorphisms with graft function in renal transplant recipients
After renal transplantation, renal graft function affects both patient and graft survival. There is growing evidence of the genetic association between interleukin-1β (IL-1β) or its receptor antagonist (IL-1RN) a...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:69 -
The role of miRNA20a and miRNA320 in Iraqi patients with COVID-19: a case–control study
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiological agent responsible for the onset of coronavirus disease 2019 (COVID-19), elicits a wide range of clinical manifestations, spanning f...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:68 -
In silico analysis of missense SNPs in GABRA1, GABRB1, and GABRB3 genes associated with some diseases in neurodevelopmental disorders
Neurodevelopmental disorders are disorders that are generally seen in the early developmental period of an individual's life and involve more than one disease that causes disruptions in the central nervous sys...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:67 -
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. Identifying the most significant factors contributing to the development of T2DM is crucial to r...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:66 -
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. In particular, neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:65 -
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 research medical fields. The purpose of this review is to investigate their role through an excursus
Citation: Egyptian Journal of Medical Human Genetics 2023 24:64 -
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 double-edged sword, because the basis of current cancer treatment is DNA damage from chemoth...
Citation: Egyptian Journal of Medical Human Genetics 2023 24:63
Official journal of
Follow
Annual Journal Metrics
-
2022 Citation Impact
1.3 - 2-year Impact Factor
0.517 - SNIP (Source Normalized Impact per Paper)
0.321 - SJR (SCImago Journal Rank)2023 Speed
19 days submission to first editorial decision for all manuscripts (Median)
180 days submission to accept (Median)2023 Usage
421,231 downloads
237 Altmetric mentions -
- ISSN: 2090-2441 (electronic)