Skip to main content
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Cover Image

Articles

Page 8 of 11

  1. 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:

  2. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. 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:

  17. 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:

  18. 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:

  19. 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:

  21. 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:

  22. 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:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  31. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  34. 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 Alaaeldin Ahmed Mohamed Saad, 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the du...

    Authors: Natalya A. Lemskaya, Svetlana A. Romanenko, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:24
    Content type: Case Report Published on:

  45. Factors contributing to the pathogenesis and progression of cervical cancer include poor attitude to screening and health intervention, late presentation, among others. Mutations in p53 gene have been attributed ...

    Authors: Michael A. Gbadegesin, Olabode E. Omotoso, Timothy A. O. Oluwasola, Clement A. Okolo, Opeyemi Soremekun, Gabriel O. Ogun, Abideen O. Oluwasola and Oyeronke A. Odunola
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:23
    Content type: Research Published on:

  46. Diabetic retinopathy (DR) and diabetic macular edema (DME) are the leading causes of blindness in patients with diabetes. Increasing numbers of people with diabetes worldwide suggest that DR and DME will conti...

    Authors: Doaa M. Abdou, Nesrine S. Mohammed, Marwa El Fouli, Hanan A. Medaney, Sarah M. El Kateb and Safaa A. El-Gabrty
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:25
    Content type: Research Published on:

  47. Prostate cancer (PCa) has one of the highest heritability of all major cancers, where the genetic contribution has been documented, and knowledge about the molecular genetics of the disease is increasing. Howe...

    Authors: Emmanuel Acheampong, Evans Asamoah Adu, Christian Obirikorang, George Amoah, Osei Owusu Afriyie, Joseph Yorke, Enoch Odame Anto, Michael Adu Gyamfi, Emmanuella Nsenbah Acheampong, Christian Kofi Gyasi-Sarpong and Francis Agyemang Yeboah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:33
    Content type: Review Published on:

  48. Multiple sclerosis (MS) is a demyelinating disease affecting the central nervous system (CNS). Long non-coding RNAs (lncRNAs) were believed to play a role in the pathogenesis of neurological disorders includin...

    Authors: Olfat Gamil Shaker, Amr Hassan, Asmaa Mohammed Mohammed and Shereen Rashad Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:32
    Content type: Research Published on:

  49. Autism is characterized by high heritability and a complex genetic mutational landscape with restricted social behavior and impaired social communication. Whole-exome sequencing is a reliable tool to pinpoint ...

    Authors: Swati Agarwala and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:22
    Content type: Research Published on:

  50. Epilepsy is a chronic disease affecting about 2% of the population and is considered a serious neurological disease. Despite its good prognosis, 20–30% of epileptic patients were not cured of their seizures ev...

    Authors: Dina Salama Abd Elmagid, Maha Abdelsalam, Hend Magdy and Noha Tharwat
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:31
    Content type: Research Published on:
Submit manuscript

Official journal of

Egyptian Knowledge Bank (EKB) Journals

New Content Item (1)

Visit our collection of Egyptian journals.

Follow

Annual Journal Metrics

  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    0.517 - SNIP (Source Normalized Impact per Paper)
    0.321 - SJR (SCImago Journal Rank)

    2023 Speed
    19 days submission to first editorial decision for all manuscripts (Median)
    180 days submission to accept (Median)

    2023 Usage 
    421,231 downloads
    237 Altmetric mentions 

  • ISSN: 2090-2441 (electronic)