Egyptian Journal of Medical Human Genetics
SCOPUS (2010-2025)ESCI-ISI
2090-2441
Cơ quản chủ quản: Springer Nature , Ain-Shams University
Lĩnh vực:
Genetics (clinical)
Phân tích ảnh hưởng
Các bài báo tiêu biểu
Can microRNA become next-generation tools in molecular diagnostics and therapeutics? A systematic review
- 2021
AbstractBackgroundMicroRNAs (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 bodyAlteration in the expression profiles of
miRNAs have been found in several diseases. It is anticipated that miRNA
expression profiling ca...
TaqI polymorphism of the VDR gene: aspects related to the clinical behavior of COVID-19 in Cuban patients
Tập 22 Số 1 - 2021
Abstract 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 TaqI polymorphism was determined by the PCR in 104 Cuban patients, who
suffered different clinical forms of COVID-19. Results There was a greater
possibility of presenting symptomatic forms [OR = 2.081, 95% CI: 0.243–17.842],
even s...
Computational evaluation of potent 2-(1H-imidazol-2-yl) pyridine derivatives as potential V600E-BRAF inhibitors
Tập 21 Số 1 - 2020
Abstract Background 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 current paper, virtual
docking screening combined with drug likeness and ADMET properties predictions
were jointly applied...
Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients
Tập 21 Số 1 - 2020
Abstract 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 genes mapped to
5q13 were affirmed to play a crucial role in determination of disease severity
and u...
Therapeutic potential of Hsp27 in neurological diseases
Tập 20 Số 1 - 2019
AbstractBackgroundHeat 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 review aims to focus on the role of Hsp27 in normal and
diseased conditio...
Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysis
Tập 21 Số 1 - 2020
Abstract 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. In present
meta-analysis, the aim is to find out the role of VDR gene polymorphisms (FokI,
BsmI, Ap...
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
pandemic. Symptoms of the disease and clinical outcomes are very different in
infected people. These d...
HLA-A gene knockout using CRISPR/Cas9 system toward overcoming transplantation concerns
Tập 22 - Trang 1-8 - 2021
The treatment of many cancers and genetic diseases relies on novel engraftment
approaches such as cell therapy and hematopoietic stem cell transplantation
(HSCT). However, these methods are hindered by the alloreactive immune responses
triggered by incompatible human leukocyte antigen (HLA) molecules. A successful
HSCT procedure requires the eradication of donor and recipient HLA
alloimmunization....
Genetics of type 2 diabetes mellitus in Indian and Global Population: A Review
Tập 23 Số 1
Abstract 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. Hereditary is known as a
risk factor for most NCDs, specifically, type 2 diabetes mellitus (T2DM), and
h...
Plasminogen activator inhibitor-1 gene polymorphism as a risk factor for vascular complications in type 2 diabetes mellitus
- 2019
AbstractBackgroundDiabetes 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 to the development of type 2 diabetes mellitus (T2DM)
and development...