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Egyptian Journal of Medical Human Genetics
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  1. Blood group has been stated to be one of the risk factors associated with viral diseases like dengue, hepatitis virus, Norwalk virus and even the coronavirus associated with 2003 severe acute respiratory syndr...

    Authors: Birasen Behera, Bidyutprava Rout, RajashreePanigrahy, Subrat Kumar Kar, Debasish Sahoo, Kundan Kumar Sahu and Sarita Otta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:7
    Content type: Research Published on:

  2. Incontinentia pigmenti (IP) is a rare X-linked dominant disorder affecting the skin and other ectodermal tissues that is caused by a mutation of the IKBKG/NEMO gene.

    Authors: Filiz Başak Cengiz Ergin, Mustafa Tekin, Meltem Güneş, Begüm Güneş, Şahika Baysun and Nejat Akar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:6
    Content type: Case Report Published on:

  3. Familial Mediterranean fever (FMF), known as a disease with a high prevalence rate among Armenian, Turkish, Jewish, and Arab descent populations, occurs as a result of pathogenic variants in mediterranean fever (

    Authors: Reza Alibakhshi, Aboozar Mohammadi, Keyghobad Ghadiri, Sahand Khamooshian, Mohsen Kazeminia and Keivan Moradi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:5
    Content type: Meta-Analysis Published on:

  4. Hypertension is a serious condition that is spread worldwide and may lead to severe complications such as heart attack, stroke, hypertensive retinopathy, and renal failure. Although some genetic and environmen...

    Authors: Zafer Cengiz Er, Ahmet Muderrisoglu, Meral Ekim and Hasan Ekim
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:4
    Content type: Research Published on:

  5. Colorectal cancer is the third most diagnosed disease in the world population and current chemotherapy has been used for targeting the cell proliferation and metastasizing ability of tumor cells. Potent chemot...

    Authors: Kuruvalli Gouthami, Vadamalai Veeraraghavan and Prashantha Nagaraja
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:3
    Content type: Research Published on:

  6. Diabetic nephropathy is known to be a leading complication of diabetes mellitus, characterized by diverse aspects such as high urinary albumin level, elevated blood pressure, and genetic susceptibility leading...

    Authors: Sindhu Varghese and Subbaraj Gowtham Kumar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:2
    Content type: Research Published on:

  7. The SARS-CoV-2 has infected many people globally with the ravaging COVID-19; a disease, which has become challenging for every aspect of modern healthcare. The saliva and oral mucosa are sites of high risk for...

    Authors: Glory Omini Ibiang, Joseph Malachi, Mercy Omini Ibiang, Daniel Kenechi Chukwudi and Olanrewaju Ayodeji Durojaye
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:1
    Content type: Correspondence Published on:

  9. As individuals live longer, elderly populations can be expected to face issues. This pattern urges researchers to investigate the aging concept further to produce successful anti-aging agents. In the current s...

    Authors: Elham Amjad, Babak Sokouti and Solmaz Asnaashari
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:90
    Content type: Research Published on:

  10. Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. ...

    Authors: David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn and N. Simon Thomas
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:89
    Content type: Research Published on:

  11. Successful implantation of blastocysts is indeed an important path in mammalian reproduction that is governed by a complicated web of cytokines interactions. Leukemia inhibitory factor (LIF) and interleukin-11...

    Authors: Zahraa Alzaidi, Şule Menziletoğlu Yildiz, Çetin Saatçi, Hilal Ünlü Akalin, Iptisam Ipek Muderris, Buşra Aynekin, Izem Olcay Şahin and Munis Dündar
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:85
    Content type: Research Published on:

  12. Infections in communities and hospitals are mostly caused by Staphylococcus aureus strains. This study aimed to determine the prevalence of five genes (SEA, SEB, SEC, SED and SEE) encoding staphylococcal enteroto...

    Authors: Ahmed A. Baz, Elsayed K. Bakhiet, Usama Abdul-Raouf and Ahmed Abdelkhalek
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:84
    Content type: Research Published on:

  13. To determine the relationship between the genotypes of the TaqI polymorphism of VDR gene and the clinical forms of COVID-19 in Cuban patients.

    Authors: Estela Morales Peralta, Yaíma Zúñiga Rosales, Teresa Collazo Mesa, Elvia Nelmi Santos González, Yadira Hernández Pérez, María de los Ángeles González Torres, Hilda Roblejo Balbuena and Beatriz Marcheco Teruel
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:83
    Content type: Correspondence Published on:

  14. Parkinson’s disease (PD) is a multifactorial neurodegenerative disorder marked by the death of nigrostriatal dopaminergic neurons in response to the compounding effects of oxidative stress, mitochondrial dysfu...

    Authors: Suchita Ganesan and Venkatachalam Deepa Parvathi
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:86
    Content type: Review Published on:

  15. A cross-sectional observational study was conducted on 213 patients with COVID-19 who did not have a clinical history of diabetes at hospital admission. One week after hospitalization, they were stratified by ...

    Authors: Ali H. Ad’hiah, Noor T. Al-Bayatee and Aeshah A. Ahmed
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:82
    Content type: Correspondence Published on:

  16. Pompe disease (PD) is a serious genetic disorder caused by deficiency of acid α-glucosidase (GAA) and subsequent glycogen accumulation inside lysosomes. This study included a cohort of 5 Egyptian infants (1–8 ...

    Authors: Mona Essawi, Nagham ElBagoury, Engy Ashaat, Wessam Sharaf-Eldin and Ekram Fateen
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:87
    Content type: Research Published on:

  17. Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known ...

    Authors: Amany H. Abdelrahman, Ola M. Eid, Mona H. Ibrahim, Safa N. Abd El-Fattah, Maha M. Eid and Nagwa A. Meguid
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:81
    Content type: Research Published on:

  18. Mitochondria dysfunction is one of the clinical features of diabetes mellitus (DM), which is a hallmark of insulin resistance (IR). This study investigates the therapeutic effect of Momordica charantia nanopartic...

    Authors: Olusola Olalekan Elekofehinti, Olusola Christianah Ayodele and Opeyemi Iwaloye
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:80
    Content type: Research Published on:

  19. Spontaneous apoptosis and expression of MCL1, BCL2, and BCL-XL may be useful prognostic markers in acute leukemia patients. The purpose of this study is to examine the prognosis in adult leukemia patients based o...

    Authors: Huda F. Ebian, Lobna A. El-korashi, Ahmed Embaby, Marwa H. Hussien and Alshymaa A. Ahmed
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:91
    Content type: Research Published on:

  20. During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although th...

    Authors: Mana Zakeri, Mohammad Sadegh Safaiee, Forough Taheri, Eskandar Taghizadeh, Gordon A. Ferns, Majid Ghayour Mobarhan and Alireza Pasdar
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:79
    Content type: Research Published on:

  21. Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorec...

    Authors: Ayca Kocaaga, Sevgi Yimenicioglu and Cigdem Arslan Alıcı
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:88
    Content type: Case Report Published on:

  22. 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 Published on:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:
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  • 2022 Citation Impact
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  • ISSN: 2090-2441 (electronic)