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Egyptian Journal of Medical Human Genetics
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  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. 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:

  16. 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:

  17. 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:

  18. 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:

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. Higher aldehyde dehydrogenases (ALDH) activity is one of the important signatures of breast cancer appearance and has been associated with poor prognosis. ALDH1A3 has been over-expressed in breast cancer patients...

    Authors: Shridhar V. Pattar, Manisha R. Mirjankar, Suyamindra Kulkarni, Pramod B. Gai, Namadev K. Pujar, H. G. Premakshi, Sikandar I. Mulla, R. L. Babu and Chandrappa M. Kamanavalli
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:21
    Content type: Research Published on:

  30. Idiopathic pulmonary fibrosis (IPF) represents a chronic disease with a progressive course. It is characterized by excessive lung scarring that ultimately contributes to irreversible lung function reduction. I...

    Authors: Manal M. El-Desoky, Asem A. Hewidy, Ahmed M. Fouda and Fatma Azzahraa Hisham
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:20
    Content type: Research Published on:

  31. The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder.

    Authors: Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak and Przemko Kwinta
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:19
    Content type: Case Report Published on:

  32. Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-rid...

    Authors: Ihssane EL Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Laila Bouguenouch, Imane Samri, Mohammed Iraqui Houssaïni, Karim Ouldim and Samir Atmani
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:18
    Content type: Research Published on:

  33. Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Glutathione-S-methyl transferase (GSTs) enzymes’ family is known to catalyze carcinogens detoxification. Overexpression of (GSTO) omega clas...

    Authors: Marianne E. Yassa, Hanaa H. Arnaout, Shahira K. Botros, Emad N. Obaid, Wael M. Mahmoud and Dalia S. Morgan
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:17
    Content type: Research Published on:

  34. Numerous studies have investigated the role of apolipoprotein E (APOE) polymorphisms in coronary artery disease (CAD), but some controversies exist regarding the outcomes as the results were not consistent and re...

    Authors: Sana Ashiq and Kanwal Ashiq
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:16
    Content type: Meta-Analysis Published on:

  35. The quantification of hemoglobin A2 (Hb A2; α2δ2) is used as a valuable test to differentiate α- and ß-thal carriers in clinical laboratories. Therefore, the HBD (δ-globin) gene variants could result in reduced l...

    Authors: Keivan Moradi, Aboozar Mohammadi and Mohsen Kazeminia
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:15
    Content type: Research Published on:

  36. One possible mechanism utilized by hepatitis C virus (HCV) to escape from the host’s innate immune surveillance is modification of its pathogen-associated molecular patterns (PAMPs) by altering or hiding its R...

    Authors: Reda A. Suef, Ezz Elden M. Mohamed, Mohamed T. M. Mansour, Kilian Weigand and Mohamed M. S. Farag
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:13
    Content type: Research Published on:

  37. Several studies have identified different genes that control the final dimension and structure of the mandible. Prognathism of the mandible is thought to correlate with these genes; however, no specific gene h...

    Authors: Avi Laviana, Bergman Thahar, Ani Melani, Endah Mardiati, Lita Putri and Akhyar Dyni Zakyah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:11
    Content type: Research Published on:

  38. Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals. The aim of this study was to investigate ...

    Authors: Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair and Sultana M. H. Faradz
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:14
    Content type: Research Published on:

  39. Being one of the rapidly growing dementia type diseases in the world, Alzheimer’s disease (AD) has gained much attention from researchers in the recent decades. Many hypotheses have been developed that describ...

    Authors: Bishajit Sarkar, Sayka Alam, Tiluttoma Khan Rajib, Syed Sajidul Islam, Yusha Araf and Md. Asad Ullah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:10
    Content type: Research Published on:

  40. Primary immune thrombocytopenia (PIT) is an acquired auto-immune disease characterized by decreased platelet count with increased bleeding tendency. The tumor necrosis factor associated induced protein-3 (TNFA...

    Authors: Marwa Abd El-hady, Dalia S. Mosallam, Shahira K. Anis, Basma S. Mansour and Marianne E. Yassa
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:12
    Content type: Research Published on:

  41. The newly emerged technology, nanotechnology, represents a promising solution for many medical and industrial problems. Random targeting, resistance, and side effects are the main disadvantages of the availabl...

    Authors: Maryam Hassan Sangour, Iftikhar M. Ali, Zeenah Weheed Atwan and Ali Abd Al Lateef A. Al Ali
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:9
    Content type: Research Published on:

  42. Obesity is a health problem defined by surplus body fat accumulation and is one of the leading causes of morbidity and mortality. Earlier studies indicated the influence of brain-derived neurotrophic factor (BDNF

    Authors: Haneieh Honarmand, Mortaza Bonyadi, Abbas Rafat, Reza Mahdavi and Fereshteh Aliasghari
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:7
    Content type: Research Published on:

  43. MicroRNAs (miRNAs) represent a novel class of single-stranded RNA molecules of 18–22 nucleotides that serve as powerful tools in the regulation of gene expression. They are important regulatory molecules in se...

    Authors: Vandana Saini, Rajni Dawar, Shilpa Suneja, Sukanya Gangopadhyay and Charanjeet Kaur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:4
    Content type: Review Published on:

  44. Melanoma cancer causes serious health problem worldwide because of its rapid invasion to other organs and lack of satisfactory chemotherapy. The pGI50 anticancer activity values of 70 compounds from the NCI (Nati...

    Authors: Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:6
    Content type: Research Published on:

  45. Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsiv...

    Authors: Ozada Khamdiyeva, Zhanerke Tileules, Gulminyam Baratzhanova, Anastassiya Perfilyeva and Leyla Djansugurova
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:5
    Content type: Research Published on:

  46. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Che Ghazali Norul Hajar, Zulkafli Zefarina, Nor Suhaila Md. Riffin, Tuan Hulwani Tuan Mohammad, Mohd Nazri Hassan, Prathapan Poonachi, Sabreena Safuan, Gehad ElGhazali, Geoffrey Keith Chambers and Hisham Atan Edinur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:8
    Content type: Correction Published on:

    The original article was published in Egyptian Journal of Medical Human Genetics 2020 21:51

  47. Biomarkers that enhance overall diagnosis and prognosis of systemic lupus erythematosus (SLE) have a growing need to be recognized. The use of long non-coding ribonucleic acids (lncRNAs) as biomarkers in this ...

    Authors: Manal M. El-Desoky, Rasha S. Shemies, Amany S. El-Bahnasawy, Nora Mostafa and Mona Elhelaly
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:3
    Content type: Research Published on:

  48. Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinic...

    Authors: Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki and Ekram Maher Fateen
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:2
    Content type: Research Published on:

  49. There are preliminary studies about the association between COVID-19 and ABO phenotypes and the results are controversial. There are only two studies which investigated the association of Rh blood groups in ad...

    Authors: Khyber Saify, Mohammad Sarwar Alborz and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:1
    Content type: Research Published on:

  50. Numerous research studies have identified specific human gene variants that affect enhanced susceptibility to viral infections. More recently is the current pandemic where the SARS-CoV-2 infection has shown a ...

    Authors: Babayemi Olawale Oladejo, Covenant Femi Adeboboye and Tinuola Tokunbo Adebolu
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:77
    Content type: Review Published on:
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  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    0.517 - SNIP (Source Normalized Impact per Paper)
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  • ISSN: 2090-2441 (electronic)