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  1. The primary cause of cancer is gene mutation which allows the growth of abnormal and damaged cells. Nutrition is one of the key factors that either increases or decreases the risk of cancer. Mannose has been f...

    Authors: Muhammad Alif Mazlan, Muhammad Lokman Md. Isa and Moustafa Ibrahim

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:64

    Content type: Research

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  2. Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three n...

    Authors: Warda Kherrour, Dean Kalicanin, Luka Brčić, Leila Hambaba, Mouloud Yahia, Souheyla Benbia and Vesna Boraska Perica

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:57

    Content type: Research

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  3. Folate is a naturally occurring, water-soluble B vitamin. The synthetic form of this compound is folic acid (FA), the deficiency of which is linked to neural tube disorders (NTD), which can be prevented by con...

    Authors: Zita C. Bendahan, Lina M. Escobar, Jaime E. Castellanos and María C. González-Carrera

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:62

    Content type: Review

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  4. The reversible process where a homogenous fluid de-mixes into two distinctively separate liquid phases is referred to as LLPS (Liquid-liquid phase separation). The resulting liquid is made up of one dilute pha...

    Authors: Olanrewaju Ayodeji Durojaye, Divine Mensah Sedzro, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Judith Nnedimkpa Ajima and Glory Omini Ibiang

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:65

    Content type: Correspondence

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  5. Walker–Warburg syndrome (WWS) is a rare, lethal, genetically, and clinically heterogeneous congenital muscular dystrophy resulting from defective glycosylation of α-dystroglycan (α-DG) and is associated with both...

    Authors: Sara H. El-Dessouky, Heba Hosny, Ahmed Ezz Elarab and Mahmoud Y. Issa

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:48

    Content type: Case Report

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  6. The house dust mites (HDM) constitute a major cause of allergic diseases all over the world. Genes encoding interleukins 12B and 17A which determine the course of T cell-mediated immune response are prime cand...

    Authors: Asmaa Mostafa Ammar, Elham Abbas EL. Zayyat, Amira EL. Saady Khayyal, Dina Mamdouh Hamdy, Aya EL-Gendy and Noha Abdel Fattah Elleboudy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:60

    Content type: Research

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  7. The discovery of epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer, most especially non-small cell lung cancer (NSCLC), was one of the major challenges encountered by the medi...

    Authors: Muhammad Tukur Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:63

    Content type: Research

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  8. Cells have evolved balanced mechanisms to protect themselves by initiating a specific response to a variety of stress. The TP53 gene, encoding P53 protein, is one of the many widely studied genes in human cells o...

    Authors: Wasim Feroz and Arwah Mohammad Ali Sheikh

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:49

    Content type: Review

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  9. Advanced 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 p...

    Authors: Tajudeen O. Yahaya, Usman U. Liman, Haliru Abdullahi, Yahuza S. Koko, Samuel S. Ribah, Zulkarnain Adamu and Suleiman Abubakar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:46

    Content type: Review

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  10. Acute myeloid leukaemia (AML) is a clonal haematopoietic disease characterized by the proliferation of immature blast cells in the bone marrow and peripheral blood. Autophagy is an inherent cellular route by w...

    Authors: Manal Fawzy Ghozlan, Botheina Ahmed Thabet Farweez, Nesma Ahmed Safwat, Noha Bassiouny Hassan and Walaa Ali Elsalakawy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:45

    Content type: Research

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  11. Homozygosity mapping is an efficient gene mapping method applicable to recessive disorders. It can detect homozygous segments of identical haplotype structures shared at a higher frequency among ventricular se...

    Authors: Rahim Gholipoorfeshkecheh, Swati Agarwala, Kavya G, Santhosh Krishnappa, Mysore R. Savitha and Nallur B. Ramachandra

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:58

    Content type: Research

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  12. Behçet’s disease (BD) is a systemic vasculitis disorder with multifactorial immunopathogenesis and associated with significant morbidity and mortality. MicroRNAs (miRNAs) are involved in the pathogenesis of in...

    Authors: Engy El Khateeb, Ayatallah Nassef, Rasha Gheith, Aya Erfan and Walaa Abdelfattah

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:43

    Content type: Research

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  13. Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane ...

    Authors: Asburce Olgac, Idil Yenicesu, Rıza Köksal Ozgul, Gürsel Biberoğlu and Leyla Tümer

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:42

    Content type: Case Report

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  14. Osteoporosis and neurological complications are consequences of acute lymphoblastic leukemia (ALL). Collagen type I alpha 1 gene (COL1A1) polymorphism is associated with osteoporosis. This study aimed to detect t...

    Authors: Alaa A. Omran, Rania S. Nageeb, Ghada S. Nageeb, Manal A. Yosif, Yassir A. Mohammad, Alshimaa A. Ali, Mervat Atfy, Taghreed M. Azmy and Hanaa H. Elsaid

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:39

    Content type: Research

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  15. The 2019-nCoV which is regarded as a novel coronavirus is a positive-sense single-stranded RNA virus. It is infectious to humans and is the cause of the ongoing coronavirus outbreak which has elicited an emerg...

    Authors: Olanrewaju Ayodeji Durojaye, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Victor Malachy Udowo, Abayomi Gaius Osotuyi, Glory Omini Ibiang and Miapeh Kous Gonlepa

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:44

    Content type: Research

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  16. Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% ...

    Authors: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen and Hala T. El-Bassyouni

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:47

    Content type: Research

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  17. Efficient approaches for early detection of colorectal cancer offer opportunities to gain better treatment outcomes. Blood-based molecular biomarkers as DNA integrity index (DII) might represent a promising tu...

    Authors: Ramy Salem, Rasha Ahmed, Karim Shaheen, Mohammed Abdalmegeed and Heba Hassan

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:38

    Content type: Research

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  18. Angiotensin-converting enzyme 2 (ACE2) is a metallopeptidase that primarily functions as a negative regulator of renin angiotensin system (RAS) by converting angiotensin II (Ang II) to angiotensin 1-7. Contrar...

    Authors: Mayank Chaudhary

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:54

    Content type: Review

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  19. Exercise benefits a variety of organ systems in mammals, and some of the best recognized effects of exercise on muscle are mediated by the transcriptional peroxisome proliferator-activated receptor gamma co-ac...

    Authors: Ehsan Badawy, Nabila A. El-laithy, Safaa M. Morsy, Magdi N. Ashour, Tahany R. Elias, Mahmoud M. Masoud and Omnia Aly

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:37

    Content type: Research

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  20. Susceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic associati...

    Authors: Ali H. Ad’hiah, Risala H. Allami, Raghdan H. Mohsin, Maha H. Abdullah, Ali J. R. AL-Sa’ady and Mustafa Y. Alsudani

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:50

    Content type: Research

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  21. Cardiac morphogenesis is a dynamic and complex process that involves a complex interaction of many genetic and environmental factors. Ventricular septal defects (VSDs) are the commonest congenital heart defect...

    Authors: Sumbal Sarwar, Shabana, Farah Ehsan, Amna Tahir, Mahrukh Jamil, Saleem Ullah Shahid, Shahida Hasnain, Asim Khan and Syed Najam Hyder

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:36

    Content type: Research

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  22. Overproduction of reactive oxygen species as a result of hyperglycemia in diabetes mellitus leads to microvascular complications. Glutathione S-transferases play important detoxifying roles with antioxidant po...

    Authors: Mohammad Bagher Hashemi-Soteh, Amir Ahmadzadeh Amiri, Majid Reza Sheikh Rezaee, Ali Ahmadzadeh Amiri, Rohodin Ahrari, Ahmad Ahmadzadeh Amiri and Fatemeh Daneshvar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:40

    Content type: Research

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  23. DNA methyltransferase 3a (DNMT3a) gene is a frequently dysregulated epigenetic modifier gene involved in the process of carcinogenesis. Also, there is a dichotomous nature of nitric oxide action with the ability ...

    Authors: Inas A. Asfour, Hany M. Hegab, Walaa A. El-Salakawy, Mohamed T. Hamza, Dina A. Mansour and Alia M. Saeed

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:34

    Content type: Research

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  24. Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of...

    Authors: Ilhem Nassour-Mokhtari, Bouchra Loukidi, Abdellatif Moussouni, Reda Bettioui, Riad Benhabib, Hafida Merzouk, Amaria Aouar and Katia Allal-Taouli

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:33

    Content type: Research

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  25. Vitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of se...

    Authors: Bushra Alhomsi, Ghalia Aboualchamat and Imad Alkadi

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:32

    Content type: Research

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  26. Protein phosphatase 2A (PP2A) functions as a tumor suppressor in many cancers. Cancerous inhibitor of protein phosphatase 2A (CIP2A) inhibits PP2A proteolytic degradation of c-Myc and enhances cell growth and tum...

    Authors: Roxan E. Shafik, Azza M. Ibrahim, Fadwa Said, Naglaa M. Hassan, Hanan E. Shafik and Hala A. Shokralla

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:31

    Content type: Research

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  27. Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with dif...

    Authors: Botheina Ahmed Thabet Farweez, Nahela Ahmed Shalaby, Doaa Ahmed Gamal Eissa, Raghda El Sayed Abdel Monem Galal, Nashwa El-khazragy and Shaimaa Abdelmalik Pessar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:30

    Content type: Research

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  28. Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressi...

    Authors: Muhsin Elmas, Basak Gogus, Banu Değirmenci, Mustafa Solak and J. G. Gleeson

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:29

    Content type: Case Report

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  29. Chromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify hi...

    Authors: Botheina Ahmed Thabet Farweez, Nevine Ahmed Kassim, Mona Fathy Abdelfataah, Naglaa Mostafa Hassan, Doha Elsayed Ahmed Hassnien and Yasmin Nabil El-Sakhawy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:28

    Content type: Research

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  30. Lung cancer tumorigenesis is mainly due to accumulation of genetic and epigenetic events in the respiratory epithelium. Epigenetic alteration is more frequent than somatic mutation in lung cancer. CpG island m...

    Authors: Mohamed Mostafa Mohamed Ahmed Rizk, Suzan Mohamed Farouk Helal, Ahmed Youssef Shaaban Gad, Doreen Nazeih Assaad Younan and Salma Abd El Maguid Mohamed Ramadan Moemen

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:27

    Content type: Research

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  31. Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relativ...

    Authors: Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev and Lyudmila Angelova

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:25

    Content type: Case Report

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  32. Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and ...

    Authors: Mohamed Almalky, Safaa H. A. Saleh, Eman Gamal Baz and Ahmed Elsadek Fakhr

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:24

    Content type: Case Report

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  33. The lack of early diagnostic tools and the development of chemoresistance have made ovarian cancer (OC) one of the deadliest gynaecological cancers. The tumour microenvironment is characterised by the extracel...

    Authors: Nisha Chandran, Mahalaxmi Iyer, Zothan Siama, Balachandar Vellingiri and Arul Narayanasamy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:23

    Content type: Review

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  34. Diabetic nephropathy (DN) is considered as one of the most serious complications resulting from diabetes mellitus and end-stage of renal failure globally. Up to 40% of diabetic patients will develop DN. The in...

    Authors: Amal Al-Shahat Ibrahim, Manal Mohammad Morsy, Safwat E. Abouhashem, Omnia Aly, Norhan A. Sabbah and Nermin Raafat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:22

    Content type: Research

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  35. The adipokine chemerin retinoic acid receptor responder protein 2 (RARRES2) has been associated with insulin resistance, type II diabetes mellitus (T2DM), obesity, and metabolic syndrome (MetS). The impact of RAR...

    Authors: Marwa A. Dahpy, Marwa K. Khairallah, Nashwa Mostafa A. Azoz and Ghada M. Ezzat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:21

    Content type: Research

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  36. Studies have shown a direct association between angiotensin-converting enzyme (ACE) and diabetic neuropathies. As such, ACE gene polymorphisms could be a risk factor for cardiac autonomic neuropathy (CAN) in pati...

    Authors: Muhanad M. Dhumad, Farqad B. Hamdan and Qasim S. Al-Mayah

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:20

    Content type: Research

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  37. The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in var...

    Authors: Farnoush Farokhian, Zahra Beyzaei, Mani Ramzi and Bita Geramizadeh

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:19

    Content type: Research

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  38. Numerous association studies have indicated that genetic alterations in genes involved in DNA repair processes are associated with the risk of age-related macular degeneration (ARMD). There is no published stu...

    Authors: Sharareh Kalteh and Mostafa Saadat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:18

    Content type: Research

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  39. Identifying disease-causing genetic variants in a particular population improves the molecular diagnosis of genetic disorders. National genome databases provide valuable information on this matter. This study ...

    Authors: Shirin Shahbazi

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:17

    Content type: Research

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  40. 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 ...

    Authors: Upendra Yadav, Pradeep Kumar and Vandana Rai

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:15

    Content type: Meta-Analysis

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  41. Strong evidence supports the involvement of inflammation processes in the development and progression of Parkinson’s disease (PD), where increasingly correlations have been identified between genetic variation...

    Authors: Zulvikar Syambani Ulhaq and Cristian Peinado Garcia

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:14

    Content type: Meta-Analysis

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  42. Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused ...

    Authors: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu and Saadet Arsan

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:16

    Content type: Case Report

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  43. Many studies have been conducted on the genetic and epigenetic etiology of gestational diabetes mellitus (GDM) in the last two decades because of the disease’s increasing prevalence and role in global diabetes...

    Authors: Tajudeen O. Yahaya, Titilola Salisu, Yusuf B. Abdulrahman and Abdulrazak K. Umar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:13

    Content type: Review

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  44. The main mechanism of acute coronary syndrome (ACS) is the rupture of atherosclerotic plaques. Matrix metalloproteinases (MMPs) play an important role in the rupture of the vulnerable plaques. MMP secretion is...

    Authors: Wafaa A. Emam, Nader M. M. Ali, Aliaa T. A. Kamel, Mohamed I. M. Eladawy and Nermin Raafat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:10

    Content type: Research

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  45. Neonatal sepsis is considered as a complicated syndrome, which requires urgent intervention to avoid the unfavorable outcome. Thus, biomarkers that can either distinguish sepsis early or predict sepsis outcome...

    Authors: Rabab F. Salim, Ahmed A. Sobeih and Heba M. Abd El Kareem

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:12

    Content type: Research

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  46. STAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been impl...

    Authors: Inam J. Lafta, Bassam K. Kudhair and Noralhuda N. Alabid

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:9

    Content type: Research

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