Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Noni Novisari Soeroso, Rozaimah Zain-Hamid, Syamsul Bihar, Chaliza Soliha, Fannie Rizki Ananda and Aida
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
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Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Lama Khudari, Marwan Halabi and Sahar Al Fahoum
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
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Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review
SpringerOpen » Egyptian Journal of Medical Human Genetics
by David Olufemi Adebo, Mathew Folaranmi Olaniyan, Christian Onosetale Ugege and Odekunle Bola Odegbemi
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
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Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan and Andrey S. Glotov
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
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Determination of damaging SNP’s in SHANK3 gene with in silico methods
SpringerOpen » Egyptian Journal of Medical Human Genetics
by İrem Gülfem Albayrak, Şeyma Yektar and Süeda Kaya
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
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Association of functional variants in miRNA genes with the risk of coronary heart disease
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Taqweem Ul Haq, Muhammad Riaz Khan, Sajjad Ali, Tariq Aziz, Thamer H. Albekairi and Aftab Ali Shah
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
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Non-coding RNAs and exosomal ncRNAs in colorectal cancer
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Yalda Zhoulideh
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
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In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Kübra Çoruh Kınalı, Ebru Özkan Oktay and Mesut Karahan
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
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An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Homa Noori, Majid Rajabian, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad and Ramin Saravani
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
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Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Azin Shirani, Razieh Mirabbasi, Leila Shabani and Somayeh Reiisi
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
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