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  1. One of the crucial functions of the immune system is to prevent tumorigenesis, yet cancer occurs when malignant cells manage to evade immune surveillance via multiple strategies. Accordingly, this study aimed ...

    Authors: Sara M. Radwan, Nooran S. Elleboudy, Nermeen A. Nabih, Amal El-kholy and Amany M. Kamal

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:78

    Content type: Research

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  2. Disorders in deoxyribonucleic acid (DNA) mutations are the common cause of colon cancer. Detection of these mutations is the first step in colon cancer diagnosis. Differentiation among normal and cancerous col...

    Authors: Safaa M. Naeem, Mai S. Mabrouk, Mohamed A. Eldosoky and Ahmed Y. Sayed

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:77

    Content type: Research

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  3. 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 ...

    Authors: Sajjad Ghalib Ibrahim Alnajar, Ali Rajabi, Melika Maydanchi, Samaneh Tayefeh Gholami, Ali Saber and Reza Safaralizadeh

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:76

    Content type: Research

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  4. Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that ar...

    Authors: Nadia Waheed, Zafar Fayyaz and Ahmad Imran

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:75

    Content type: Case Report

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  5. Coronary artery disease (CAD) is a leading cause of morbidity and mortality, with a shifting trend towards the younger population. Paraoxonase1 (PON1) is a glycoprotein enzyme associated with high-density lipo...

    Authors: Rohit Kumar, Vandana Saini, Charanjeet Kaur, H. S. Isser, Nitin Tyagi and Subhra Sahoo

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:74

    Content type: Research

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  6. The pathophysiology underlying Fuchs' Endothelial Corneal Dystrophy (FECD), especially in older individuals, remains unclear, with a genetic predisposition being reported as the single best predictor of the di...

    Authors: Ker Hsin Ng, Visvaraja Subrayan, Vasudevan Ramachandran and Fazliana Ismail

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:73

    Content type: Research

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  7. Bladder cancer (BCa) and prostate cancer (PCa) are frequent urothelial and genital malignancies with a high ratio of morbidity and mortality which are more common among males. Since BCa and PCa cases are mainl...

    Authors: Malihe Zangoue, Amir Sadra Zangouei, Majid Mojarrad and Meysam Moghbeli

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:72

    Content type: Review

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  8. Nocturnal enuresis (NE) is a common voiding problem in pediatric populations. Relatively, few studies have investigated the 25-Hydroxyvitamin D and NE associations in children, which may open up a new research...

    Authors: Farida M. El-Baz, Marian G. R. Abdelsayed, Aziza S. Abdel-Hafeez and Reham I. Abdelmageed

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:71

    Content type: Research

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  9. Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) a cofactor for adipose triglyceride lipase (ATGL) resulting...

    Authors: Nadia Waheed, Sadaqat Ijaz and Zafar Fayyaz

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:69

    Content type: Research

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  10. Acute leukemias are malignant neoplastic diseases that arise from either lymphoid [ALL] or myeloid [AML] cell lines that are distinguished by the proliferation of BM non-functional immature cells and subsequen...

    Authors: Samir Ali Abd El-Kaream, Samia Abd El-Moneim Ebied, Nadia Ali Sadek, Dina Mohamed Saad and Eman Attia Nadwan

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:68

    Content type: Research

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  11. The genetic variation of nicotinamide phosphoribosyl transferase (NAMPT) gene rs4730153 is reported to be associated with cardiometabolic risk, but the results are inconsistent between populations. Ethnicity, met...

    Authors: Anggelia Puspasari, Pramudji Hastuti, Ahmad Hamim Sadewa, Rosdiana Mus, Citra Maharani and Ika Setyawati

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:67

    Content type: Research

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  12. In recent years, hypermethylation of gene promoters has emerged as one of the fundamental mechanisms for the inactivation of tumor suppressor genes and has a potential role in the early detection of breast can...

    Authors: Azhar Mohamed Nomair, Sanaa Shawky Ahmed, Ayman Farouk Mohammed, Hazem El Mansy and Hanan Mohamed Nomeir

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:66

    Content type: Research

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  13. There are several genetic mutations that carry prognostic and predictive values in acute myeloid leukemia (AML). They are also implicated in disease pathogenesis and patient outcome. They can be a target of no...

    Authors: Hanan M. Bedair, Mohamed H. Attia, Suzy F. Gohar, Fatma M. Khalaf, Sahar Badr El-DIN and Hatem Rabie

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:64

    Content type: Research

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  14. Curcuma longa (Turmeric) is a traditionally used herb in wound healing. The efficacy of fresh turmeric paste to heal wounds has already been investigated in multiple ethnobotanical studies. Wnt/β-catenin signalin...

    Authors: Riyan Al Islam Reshad, Sayka Alam, Humaira Binte Raihan, Kamrun Nahar Meem, Fatima Rahman, Fardin Zahid, Md. Ikram Rafid, S. M. Obaydur Rahman, Sadman Omit and Md. Hazrat Ali

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:65

    Content type: Research

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  15. Alzheimer’s disease (AD) is the most widely recognized type of dementia. It is associated with cell cycle abnormalities including genomic instability and increased micronuclei (MNi) which usually evolve many y...

    Authors: Dalia Farouk Hussen, Ayat Allah Farouk Hussein, Mahmoud Abdel Moety Monzer and Saida Ali Hammad

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:63

    Content type: Research

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  16. The treatment of epidermal growth factor receptor (EGFR)-muted non-small cell lung cancer (NSCLC) remains among the utmost important unachieved therapeutic need worldwide. Development of EGFR inhibitors to tre...

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

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:62

    Content type: Research

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  17. Long non-coding RNAs (LncRNAs) have recently been considered promising biomarkers for oncogenesis due to their epigenetic regulatory effects. HOTAIR is one of the oncogenic LncRNAs that was previously studied ...

    Authors: Mona Salah, Hamdy Zawam, Neven Bahaa Fouad, Nohair Soliman and Fatma Abdel Wahab Abdel Maksoud

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:61

    Content type: Research

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  18. It is a known fact that arginine is a common substrate for arginase and nitric oxide synthase (NOS). However, an imbalance between both enzymes could lead to a change in airway responses. Reports suggest that ...

    Authors: Haruna Isiyaku Umar, Tolulope Peter Saliu, Sunday Solomon Josiah, Adeola Ajayi and Jamilu Bala Danjuma

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:60

    Content type: Research

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  19. Although there is relatively much information about the status of cystic fibrosis disease in different countries of the world, limited data are available on this disease among Syrian children. Therefore, we di...

    Authors: Raghad Al-Baba and Almoutassem Billah Zetoune

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:59

    Content type: Research

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  20. Acute myeloid leukemia represents the highest percentage of all adult acute leukemia variants. Runt-related transcription factor1 (RUNX1), a transcription factor with a known tumor suppressor function, was recent...

    Authors: Fadwa Said, Roxan E. Shafik and Naglaa M. Hassan

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:58

    Content type: Research

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  21. Genetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%. This study describes a combination of rare m...

    Authors: Nataliya N. Timoshkina, Dmitry Y. Gvaldin, Ekaterina P. Omelchuk, Larisa N. Vashhenko, Tatjana V. Ausheva, Emma E. Kechedzhieva and Oleg I. Kit

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:57

    Content type: Case Report

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  22. 25-Hydroxyvitamin D (Vit.D) levels associated with cardiovascular disease (CVD) may vary according to genetic variants in the vitamin D receptor (VDR) gene. However, the existing results are not conclusive in ...

    Authors: Soad M. Eweida, Ahmed Salem, Yehia M. Shaker, Nervana Samy, Ibrahim Yassen and Rania Hassan Mohamed

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:55

    Content type: Research

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  23. The computational biology approach has advanced exponentially in protein secondary structure prediction (PSSP), which is vital for the pharmaceutical industry. Extracting protein structure from the laboratory ...

    Authors: Heba M. Afify, Mohamed B. Abdelhalim, Mai S. Mabrouk and Ahmed Y. Sayed

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:54

    Content type: Research

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  24. Motor neurons (MNs) are distinct types of cells in the dorso-ventral axis of the spinal cord. These cells are developed in the presence of two main morphogens, including Sonic hedgehog (Shh) and retinoic acid ...

    Authors: Davood Sanooghi, Parham Vahdani, Zohreh Bagher, Faezeh Faghihi and Abolfazl Lotfi

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:53

    Content type: Research

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  25. The percentage of the multidrug resistant Klebsiella pneumoniae clinical isolates is increasing worldwide. The excessive exposure of K. pneumoniae isolates to sublethal concentrations of biocides like benzalkoniu...

    Authors: Engy A. Elekhnawy, Fatma I. Sonbol, Tarek E. Elbanna and Ahmed A. Abdelaziz

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:51

    Content type: Research

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  26. Dendritic cells (DCs) recognize different pathogens and cancer cells and activate the adaptive immune response. The generation of effective DC-based cancer vaccines depends on the appropriate differentiation o...

    Authors: Yousri M. Hussein, Doaa M. Hendawy, Abdalrahman N. Alghamdy and Nermin Raafat

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:50

    Content type: Research

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  27. Healthy aging perceives human longevity probably due to carrying the defensive genes. Forkhead box O (FOXO) transcription factors provide the most convincing example of a conserved genetic pathway at the point...

    Authors: Neelam Tia, Moti Lal and I. S. Gambhir

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:47

    Content type: Commentary

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  28. Diabetic kidney disease (DKD) is a progressive kidney disease that affects diabetic patients irrespective of glycemic state or hypertension. Therefore, early detection of DKD is of critical importance. Many ge...

    Authors: Thoria A. Omar, Shimaa K. Zewain, Mohamed M. Ghonaim, Khadija A. Refaat and Dalia H. Abou-Elela

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:49

    Content type: Research

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  29. Behcet’s disease (BD) is a systemic inflammatory disease of the blood vessels and affects various body parts. This study aimed to determine the association of four single-nucleotide polymorphisms (SNPs) and BD...

    Authors: Mohamed M. Emara, Maiada M. Mahmoud, Mohamed N. Saad, Mai S. Mabrouk, Mohamed Hamed and Olfat G. Shaker

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:46

    Content type: Research

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  30. The relation between PIM2 and the transcriptional factor NF κβ have been controversial in literature. The significance of PIM2 and NF-κβ genes expression on the incidence of acute leukemia (AML and ALL) and its r...

    Authors: Shymaa Kamal El Din Abed El Rahman, Sanaa Sayed Abd Elshafy, Mohamed Samra, Hala Mohammed Ali and Rabab Afifi Mohamed

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:44

    Content type: Research

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  31. The molecular mechanisms for chronic kidney disease (CKD) remain largely unknown and appear to be multifactorial. In the current study, we aimed to study the circulatory levels of circular ankyrin repeat domai...

    Authors: Nearmeen M. Rashad, Mohamed H. Sherif, Amal S. El-Shal and Mona A. E. Abdelsamad

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:43

    Content type: Research

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  32. Ankylosing spondylitis (AS) is a rare inflammatory disorder affecting the spinal joints. Although we know some of the genetic factors that are associated with the disease, the molecular basis of this illness h...

    Authors: Rowan AlEjielat, Anas Khaleel and Amneh H. Tarkhan

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:42

    Content type: Research

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  33. Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms ...

    Authors: Asal Gailan Abdul-Qadir, Bassam Musa Al-Musawi, Rabab Farhan Thejeal and Saad Abdul-Baqi Al-Omar

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:45

    Content type: Research

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  34. Genetic variation has a key role in the development of asthma, but genetic influences may vary between different populations. In this study, we looked for evidence of association of key asthma SNPs, namely, rs...

    Authors: Mouna Ziani, Amanda P. Henry and Ian P. Hall

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:40

    Content type: Research

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  35. The novel coronavirus SARS-CoV-2 is currently a global threat to health and economies. Therapeutics and vaccines are in rapid development; however, none of these therapeutics are considered as absolute cure, a...

    Authors: Olanrewaju Ayodeji Durojaye, Nkwachukwu Oziamara Okoro and Arome Solomon Odiba

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:48

    Content type: Research

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  36. Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelin...

    Authors: Sergio Arias, Irene Paradisi, Alba Hernández and Daniela Kanzler

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:39

    Content type: Research

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  37. The treatment of many cancers and genetic diseases relies on novel engraftment approaches such as cell therapy and hematopoietic stem cell transplantation (HSCT). However, these methods are hindered by the all...

    Authors: Farshid Amiri, Maryam Ranjbar, Mohammad Pirouzfar, Marjan Nourigorji and Mehdi Dianatpour

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:37

    Content type: Research

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  38. Acute myeloid leukemia (AML) is a disorder characterized by a rapid onset of symptoms attributable to bone marrow failure due to clonal proliferation of primitive hematopoietic stem cells or progenitor cells. ...

    Authors: Rawda Ahmed Alaa Eldin, Amany Ahmed Osman, Mona Fathey Abdel Fattah Hassan, Shereen Abdel Monem Ibrahim and Yasmin Nabil El-Sakhawy

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:36

    Content type: Research

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  39. Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the expression of the BCR-ABL1 fusion gene. Tyrosine kinase inhibitors (TKI) are used to treat CML, but mutations in the tyrosine k...

    Authors: Syarifah Faezah Syed Mohamad and Marjanu Hikmah Elias

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:35

    Content type: Research

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  40. Human leukocyte antigen-G (HLA-G) has been proposed to influence susceptibility to inflammatory bowel disease (IBD). Therefore, the genetic association between HLA-G alleles and two clinical phenotypes of IBD ...

    Authors: Sarah S. Abdul-Hussein, Ekhlass N. Ali, Neihaya H. Zaki and Ali H. Ad’hiah

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:34

    Content type: Research

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  41. Acute myeloid leukemia (AML) is a heterogeneous malignant disease characterized by accumulation of different types of mutations commonly the CCAAT/enhancer binding protein-alpha (CEBPA). However, the dysregulatio...

    Authors: Naglaa M. Hassan, Fadwa Said, Roxan E. Shafik and Mona S. Abdellateif

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:30

    Content type: Research

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  42. Type 2 diabetes (T2D) is a complex trait in humans. Several environmental and hereditary factors contribute to the overall pathogenesis of this disease. The association between genes, environment, and T2D was ...

    Authors: Sally M. Hafez, Hazem. El-Sayed Abou-youssef, Mona Abdel-Kader Awad, Solaf Ahmed Kamel, Rasha N. Youssef, Suzan Mahrous Elshiekh, Hala Raslan and Nehal Salah

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:29

    Content type: Research

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  43. Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live birth...

    Authors: Jay J. Desai, Sreelata B. Nair and S. Pappachan

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:28

    Content type: Case Report

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  44. Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel a...

    Authors: Shilpa Reddy, Sailaja Maddhuri, Pratibha Nallari, Venkateshwari Ananthapur, Srinivas Kalyani, Murali Krishna, Nirmala Cherkuri and Sireesha Patibandala

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:27

    Content type: Research

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  45. The potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown. The objective of the study was to test the relationship between VDR Taq 1 a...

    Authors: Walaa Alsharany Abuelhamd, Nancy Abdel Salam Gomaa, Alaa Gad and Rehab El-Wakeel

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:41

    Content type: Research

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  46. Alzheimer’s disease (AD) is a progressive neurodegenerative age-related dementia that results in memory loss of elderly people. Many hypotheses have been formally articulated till now to decipher the pathogene...

    Authors: Md. Asad Ullah, Fatema Tuz Johora, Bishajit Sarkar, Yusha Araf, Nafisa Ahmed, Abida Nurun Nahar and Tanzina Akter

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:26

    Content type: Research

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  47. It has been postulated that the interaction between environmental risk factors and genetic susceptibility is a possible cause for the development of acute myeloid leukemia (AML). Cytochrome P450 (CYP) detoxifi...

    Authors: Shahira Kamal Anis Botros, Nesrine El Gharbawi, Gehan Shahin, Hend Al Lithy and Mahmoud El Sherbiny

    Citation: Egyptian Journal of Medical Human Genetics 2021 22:38

    Content type: Research

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