Egyptian Journal of Medical Human Genetics
SCOPUS (2010-2023)ESCI-ISI
2090-2441
Cơ quản chủ quản: Springer Nature , Ain-Shams University
Lĩnh vực:
Genetics (clinical)
Các bài báo tiêu biểu
Can microRNA become next-generation tools in molecular diagnostics and therapeutics? A systematic reviewAbstract Background MicroRNAs (miRNAs) represent a novel class of single-stranded RNA molecules of 18–22 nucleotides that serve as powerful tools in the regulation of gene expression. They are important regulatory molecules in several biological processes. Main body Altera...
- 2021
TaqI polymorphism of the VDR gene: aspects related to the clinical behavior of COVID-19 in Cuban patientsAbstract
Purpose
To determine the relationship between the genotypes of the TaqI polymorphism of VDR gene and the clinical forms of COVID-19 in Cuban patients.
Methods
...
Tập 22 Số 1 - 2021
Computational evaluation of potent 2-(1H-imidazol-2-yl) pyridine derivatives as potential V600E-BRAF inhibitorsAbstract
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V600E-BRAF is a major protein target involved in various types of human cancers. However, the acquired resistance of the V600E-BRAF kinase to the vemurafenib and the side effects of other identified drugs initiate the search for efficient inhibitors. In the ... ...
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Therapeutic potential of Hsp27 in neurological diseasesAbstract Background Heat shock proteins (Hsps) are widely reported in normal cellular dynamics under stress and non-stress conditions, and parallelly, the studies regarding its role in disease condition are also progressing steadily. The function of Hsps in neurodegenerative disorders is puzzling and not fully understood. This revie...
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Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patientsAbstract
Background
Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Although SMN1 was identified as the SMA disease-determining gene, modifier ... ...
Tập 21 Số 1 - 2020
Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysisAbstract
Background
Osteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated VDR gene polymorphisms as osteoporosis risk in different ethnic groups.... ...
Tập 21 Số 1 - 2020
HLA alleles associated with COVID-19 susceptibility and severity in different populations: a systematic review Abstract
Background
COVID-19 is a respiratory disease caused by a novel coronavirus called as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Detected for the first time in December 2019 in Wuhan and it has quickly spread all over the world in a couple of months and becoming a world pa... ...
Plasminogen activator inhibitor-1 gene polymorphism as a risk factor for vascular complications in type 2 diabetes mellitusAbstract Background Diabetes mellitus (DM) can lead to microvascular and macrovascular damages through hyperglycemia that is the main cause of diabetic complications. Other factors such as hypertension, obesity, and hyperlipidemia may worsen or accelerate the others. Several studies have revealed definitive genetic predispositions t...
- 2019
Genetics of type 2 diabetes mellitus in Indian and Global Population: A ReviewAbstract
Background
Non-communicable diseases such as cardiovascular diseases, respiratory diseases and diabetes contribute to the majority of deaths in India. Public health programmes on non-communicable diseases (NCD) prevention primarily target the behavioural risk factors of the population. Here... ...
Tập 23 Số 1
Vitamin D levels and vitamin D receptor genetic variants in Egyptian cardiovascular disease patients with and without diabetesAbstract
Background
25-Hydroxyvitamin D (Vit.D) levels associated with cardiovascular disease (CVD) may vary according to genetic variants in the vitamin D receptor (VDR) gene. However, the existing results are not conclusive in the Egyptian population, where diabetes mellitus is a common CVD risk f... ...
- 2021