
SpringerOpen » Egyptian Journal of Medical Human Genetics
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Egyptian Journal of Medical Human Genetics (EJMHG) is open access, peer-reviewed journal with a focus on reporting innovations within the field of human and medical genetics. The journal considers articles on all aspects of the genetic basis of human disease, with a particular emphasis on biochemical genetics, biological studies of enzymes and other protein deficiencies, as well as immunogenetics.
SpringerOpen » Egyptian Journal of Medical Human Genetics
1d ago
Nicotine metabolism significantly influences the levels of harmful nicotine metabolites in smokers. CYP2A13, a key enzyme in nicotine and xenobiotic metabolism, is implicated in tobacco smoke-related lung cancer ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1d ago
Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). Therefore, this study presents a case report highl ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1d ago
Type 2 Diabetes Mellitus (T2DM) is a significant global health concern characterised by insulin resistance and chronic hyperglycemia. Genetic factors, particularly variations in the CAPN-10 gene, have been imp ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1d ago
Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1d ago
Asperger's syndrome, autism, and other neurodevelopmental diseases are all included under the general term autism spectrum disorder. The SHANK3 gene has a significant role in autism spectrum disorder; mutation ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
6d ago
Cardiovascular diseases, especially coronary heart disease (CHD), are currently the leading cause of mortality and morbidity. Environmental and genetic factors contribute to the pathophysiology of CHD. In this ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
6d ago
Colorectal cancer (CRC) is a complex disease with many genetic and epigenetic changes leading to dysregulation of cell signaling pathways. In recent years, increasing attention has been paid to the role of non ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1w ago
Single nucleotide polymorphism (SNP) is called changes in a single base sequence in DNA between individuals. Micro-RNAs (miRNAs) are short, non-coding RNA molecules that control gene expression after transcrip ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1w ago
Type 2 diabetes mellitus (T2DM) showed a broad etiology that both environmental and genetic factors play a role in its predisposition. Purinergic receptors have been hypothesized to be included in the pathogenici ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
2w ago
Pyrogallol is a catechin compound, as an active ingredient extracted from Emblica officinalis, has antiproliferative and antiapoptotic effects on some of the human cancer cells. Cisplatin is known as an effective ..read more