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 review
- 2021
Vandana Saini, Rajni Dawar, Shilpa Suneja, Sukanya Gangopadhyay, Charanjeet Kaur
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 bodyAltera...... hiện toàn bộ
Computational evaluation of potent 2-(1H-imidazol-2-yl) pyridine derivatives as potential V600E-BRAF inhibitors
Tập 21 Số 1 - 2020
Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa
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 ...... hiện toàn bộ
TaqI polymorphism of the VDR gene: aspects related to the clinical behavior of COVID-19 in Cuban patients
Tập 22 Số 1 - 2021
Estela Morales Peralta, Yaíma Zúñiga Rosales, Teresa Collazo Mesa, Elvia Nelmi Santos González, Yadira Hernández Pérez, María de los Ángeles González Torres, Hilda Roblejo Balbuena, Beatríz Marcheco Teruel
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 ... hiện toàn bộ
Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysis
Tập 21 Số 1 - 2020
Upendra Yadav, Pradeep Kumar, Vandana Rai
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....... hiện toàn bộ
Therapeutic potential of Hsp27 in neurological diseases
Tập 20 Số 1 - 2019
Anila Venugopal, Kasthuri Sundaramoorthy, Balachandar Vellingiri
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 revie...... hiện toàn bộ
Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients
Tập 21 Số 1 - 2020
Heba Hassan, Maha S. Zaki, Mahmoud Y. Issa, Nagham ElBagoury, Mona Essawi
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 ...... hiện toàn bộ
HLA alleles associated with COVID-19 susceptibility and severity in different populations: a systematic review
Meryem Fakhkhari, Hayat Caidi, Khalid Sadki
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...... hiện toàn bộ
Genetics of type 2 diabetes mellitus in Indian and Global Population: A Review
Tập 23 Số 1
Anjaly Joseph, Maradana Thirupathamma, Thirunavukkarasu Sathish, Alagu Manickavelu
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. Here...... hiện toàn bộ
Plasminogen activator inhibitor-1 gene polymorphism as a risk factor for vascular complications in type 2 diabetes mellitus
- 2019
Fatma A. Khalaf, Hatem R. Ibrahim, Hanan M. Bedair, Maha Allam, Amr Aly Elshormilisy, Samia Taher Ali, Waseem M. Gaber
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 t...... hiện toàn bộ
Thiết kế dựa trên cấu trúc của một số dẫn xuất quinazoline như là các chất ức chế thụ thể yếu tố tăng trưởng biểu bì Dịch bởi AI
Tập 21 Số 1 - 2020
Muhammad Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa
Tóm tắt Đặt vấn đề Sự phát hiện các chất ức chế thụ thể yếu tố tăng trưởng biểu bì (EGFR) trong điều trị ung thư phổi, đặc biệt là ung thư phổi không tế bào nhỏ (NSCLC), đã trở thành một trong những thách thức lớn đối với các nhà hóa học dược phẩm trên thế giới. Việc điều trị bằng EGFR tyrosine kinase để quản lý NSCLC trở thành mộ...... hiện toàn bộ