Mendel paved the path toward understanding genetic diseasesEgyptian Journal of Medical Human Genetics - Tập 23 - Trang 1-3 - 2022
Sreejon Sundar Das
July 20th, 2022, marks the 200th anniversary of the “Father of Genetics,” Gregor Mendel’s birth. His experiments with pea plants established the fundamental principles of genetic inheritance.
In this article, a succinct review of literature is hereby done to answer two key questions: (1) How Mendel’s principles of genetic inheritance helped us understand Mendelian disorders? and (2) How the study...... hiện toàn bộ
Implications of mitochondrial DNA variants in pediatric B-cell acute lymphoblastic leukemiaEgyptian Journal of Medical Human Genetics - Tập 23 Số 1
Ayushi Jain, Amit Katiyar, Ritika Singh, Sameer Bakhshi, Harpreet Singh, Jayanth Kumar Palanichamy, Archna Singh
Abstract
Background
Research on the role of variations in the mitochondrial genome in pathogenesis of acute lymphoblastic leukemia (ALL) has been unfolding at a rapid rate. Our laboratory has previously described higher number of copies of the mitochondrial genomes per cell in pediatric ALL patients...... hiện toàn bộ
Genes predisposing to syndromic and nonsyndromic infertility: a narrative reviewEgyptian Journal of Medical Human Genetics - - 2020
Tajudeen Yahaya, Usman U. Liman, Haliru Abdullahi, Yahuza S. Koko, Samuel S. Ribah, Zulkarnain Adamu, Suleiman Abubakar
AbstractBackgroundAdvanced biological techniques have helped produce more insightful findings on the genetic etiology of infertility that may lead to better management of the condition. This review provides an update on genes predisposing to syndromic and nonsyndromic infertility.Main body...... hiện toàn bộ
Genetic Counselling: the biomedical bridge between molecular diagnosis and precision treatmentEgyptian Journal of Medical Human Genetics - Tập 23 - Trang 1-7 - 2022
Emili Banerjee, Koutilya Bhattacharjee
Since the development of genomics, we are able to understand backgrounds of differential pathogenicity of metabolic disorders. Molecular diagnosis has become inevitable for metabolic, neuro-psychiatric and genetic disorders due to highly overlapping pathophysiological symptoms. The present lacuna between clinical prescription and molecular diagnosis is very prominent and can only be filled up thro...... hiện toàn bộ
Susceptibility role of soluble HLA-G and HLA-G 14-bp insertion/deletion polymorphism in inflammatory bowel diseaseEgyptian Journal of Medical Human Genetics - - 2020
Sarah S. Abdul-Hussein, Ekhlass N. Ali, Nawal M. Alkhalidi, Neihaya H. Zaki, Ali H. Ad’hiah
Abstract
Background
Inflammatory bowel disease (IBD) is a group of chronic inflammatory disorders of the gastrointestinal tract. It is fundamentally related to a dysregulated immune response in the intestinal mucosa against microbiota in genetically predisposed individuals. Among the genetic and immunological factors that are sugg...... hiện toàn bộ
Overexpression of lncRNA AFAP1-AS1 as a diagnostic biomarker in non-small cell lung cancerEgyptian Journal of Medical Human Genetics - Tập 22 - Trang 1-5 - 2021
Sajjad Ghalib Ibrahim Alnajar, Ali Rajabi, Melika Maydanchi, Samaneh Tayefeh Gholami, Ali Saber, Reza Safaralizadeh
Long non-coding RNAs (lncRNAs) play important roles in lung tumorigenesis. Among different lncRNAs, overexpression of the lncRNA actin filament‐associated protein 1‐antisense RNA 1 (AFAP1-AS1) in lung tumors has been reported in different studies. In the current study, we aimed to investigate the potential value of lncRNA AFAP1-AS1 as a diagnostic biomarker in lung cancer. Ninety samples from pati...... hiện toàn bộ