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Egyptian Journal of Medical Human Genetics
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  1. The coronavirus disease 2019 (COVID-19) pandemic has caused human tragedy through the global spread of the viral pathogen SARS-CoV-2. Although the underlying factors for the severity of COVID-19 in different p...

    Authors: Fatemeh Arab, Samaneh Mollazadeh, Farnaz Ghayourbabaei, Meysam Moghbeli and Ehsan Saburi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:14
    Content type: Review Published on:

  2. Organic cation transporter 2 (OCT2) is a renal carrier transporter protein found in the basolateral membrane of proximal epithelial cells, which facilitates active secretion of Metformin. The genetic polymorph...

    Authors: Swathi Swaroopa Borra, Niva Rose Jane, Dhivyaprasath Palaniappan, Rupakrishnan Subramanian, Mithila Amar Patankar, Sadagoban Gopal Krishnamoorthy and Arun Kanniyappan Parthasarathy
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:13
    Content type: Review Published on:

  3. Hypomyelinating leukodystrophy (HLD) is a specific group of leukodystrophies and is characterized by progressive postnatal growth delay that represents a type of clinically overlapping but genetically heteroge...

    Authors: Maryam Akbari, Zeinab Ebrahimi Tapeh, Mona Zaersabet, Hamzeh Rahimi and Maziar Ganji
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:12
    Content type: Research Published on:

  4. Acute myeloid leukemia (AML) is a heterogeneous disorder encompassing a set of hematopoietic tumors that develop when the myeloid precursor cells undergo disproportionate clonal proliferation. Homeobox A 9 (HOXA9

    Authors: Amira M. N. Abdelrahman, Fetnat Mahmoud Tolba, Howyda Mohamed Kamal, Mona S. Abdellateif, Heba Abdelmoneim Ahmed and Naglaa M. Hassan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:11
    Content type: Research Published on:

  5. COVID-19 is a respiratory disease caused by a novel coronavirus called as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Detected for the first time in December 2019 in Wuhan and it has quickly ...

    Authors: Meryem Fakhkhari, Hayat Caidi and Khalid Sadki
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:10
    Content type: Review Published on:

  6. The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene ...

    Authors: Catarina Granjo Morais, Rita Quental, Lara Lourenço, Micaela Guardiano, Cármen Silva and Miguel Leão
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:9
    Content type: Case Report Published on:

  7. Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein defic...

    Authors: Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho and Elisa Leão Teles
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:8
    Content type: Case Report Published on:

  8. Mycobacteria include ubiquitous species of varying virulence. However, environmental and individual-specific factors, particularly host genetics, play a crucial role in the outcome of exposure to mycobacteria....

    Authors: Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Kaoutar Ouazahrou, Laurent Abel, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jacinta Bustamante and Ahmed Aziz Bousfiha
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:7
    Content type: Review Published on:

  9. Meyerozyma guilliermondii is a prospective yeast that has extensively contributed to the biotechnology sector. In 2015, M. guilliermondii strain SO which was isolated from spoiled orange has successfully been dev...

    Authors: Robiatul Azilah Zainudin, Suriana Sabri, Abu Bakar Salleh, Arpah Abu, Raja Farhana Raja Khairuddin and Siti Nurbaya Oslan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:6
    Content type: Research Published on:

  10. Since MTHFR is the key enzyme in folate metabolism, its reduction can lead to hyperhomocysteinemia, which can have a negative impact on pregnancy outcome. Moreover, MTHFR polymorphism has also been linked with ox...

    Authors: Pratibha Rathod, Ajesh Desai and Divya Chandel
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:5
    Content type: Research Published on:

  11. The primary factor in sudden cardiac death is coronary artery disease. We intended to discover the diagnostic worth of circulating tumor necrosis factor like cytokine 1A (TL1A) and free fatty acid receptor 2 (...

    Authors: Amira A. Kamel, Salma Taha and Aliaa A. Mosa
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:4
    Content type: Research Published on:

  12. Tuberculosis (TB) is considered one of the most infectious diseases in the world. In this study, we intended to examine the epidemiology of tuberculosis by MIRU-VNTR to define the changes that occur in the tra...

    Authors: Peyvand Kashi, Farzaneh Pakdel, Mohammad Hossein Soroush Barhaghi, Mohammad Ahangarzadeh Rezaee, Sepehr Taghizadeh, Javid Sadeghi, Mehdi Yousefi, Reza Ghotaslou, Mohammad Asgharzadeh, Pourya Gholizadeh and Hossein Samadi Kafil
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:3
    Content type: Research Published on:

  13. Psychiatric disorders are a major burden on global health. These illnesses manifest as co-morbid conditions, further complicating the treatment. There is a limited understanding of the molecular and regulatory...

    Authors: M. J. Nishanth and Shanker Jha
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:2
    Content type: Research Published on:

  14. Chronic myeloid leukemia (CML) is a multifactorial clonal myeloid neoplasm that mainly arises from the Philadelphia chromosome. Even though imatinib mesylate (IM) is considered the gold standard for first-line...

    Authors: Negar Nouri, Valiollah Mehrzad, Zahra Khalaj, Erfan Zaker, Fateme Zare, Elham Abbasi, Maede Khosravi, Seyed Mehdi Kalantar and Mansoor Salehi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:1
    Content type: Research Published on:

  15. ATP-binding cassette transporters A1/G1 (ABCA1/G1) is a main regulator of HDL (high-density lipoprotein) formation and reverse cholesterol transport. Impaired ABCA1/G1 genes function may seriously affect choleste...

    Authors: Elaheh Mansouri, Fataneh Esmaeili, Maryam Montaseri, Mohammad Amin Emami, Shabnaz Koochakkhani, Mahmood Khayatian, Hasan Zarei, Habibollah Turki and Ebrahim Eftekhar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:167
    Content type: Research Published on:

  16. Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestat...

    Authors: Elaheh Nekouei, Elmira Shokrolahi Yancheshmeh, Javad Mohammadi-Asl and Zafar Maasoumi Moghaddam
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:166
    Content type: Case Report Published on:

  17. Dietary components can influence the effects of genetic background in breast cancer (BC). This review study aimed to investigate the effect of dietary components on the expression level of BC-related genes.

    Authors: Fatemeh Bourbour, Azam Pourtaheri, Khadijeh Abbasi, Naeemeh Hasanpour Ardekanizadeh, Maryam Gholamalizadeh, Azadeh Hajipour, Sepideh Abdollahi, Seyedeh Elaheh Bagheri, Mina Ahmadzadeh, Saeid Doaei and Arezoo Haghighian
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:165
    Content type: Review Published on:

  18. Hepcidin is the key regulator of systemic iron homeostasis and is downregulated by matriptase 2 (MT2), a protease encoded by TMPRSS6 gene. In the presence of low iron levels, MT2 cleaves membrane-bound hemojuveli...

    Authors: Halinne Lokuge Thilakshi Chamanika Abeywickrama, Miruna Sudharshani Kalaimani Rabindrakumar, Lakindu Samaranayake Pathira Kankanamge, Tharanga Thoradeniya and Gayani Harendra Galhena
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:164
    Content type: Research Published on:

  19. Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosin...

    Authors: Afolake Arowolo, Cenza Rhoda, Mzwandile Mbele, Oluwafemi G. Oluwole and Nonhlanhla Khumalo
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:163
    Content type: Research Published on:

  20. The present study was aimed to study the frequencies of HLA-DRB1/-DQB1 alleles and haplotypes of three endogamous groups of Tamil Nadu state, South India. PCR-SSP typing of HLA-DRB1 and -DQB1 alleles were perf...

    Authors: Kamaraj Raju, Balakrishnan Karuppiah and Rathika Chinniah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:162
    Content type: Research Published on:

  21. Cardiovascular disease is now well established as an interaction between genetic and environmental components. Newly identified single nucleotide polymorphisms of angiopoietin-like 3 (ANGPTL3) influence lipid ...

    Authors: Forough Poursalehi, Malihe Aghasizadeh, Somaye Ghorbanzadeh, Farzaneh heydari, Tooba Kazemi, Farshad Sharifi, Mitra Moodi, Hossen Fakrzadeh and Ebrahim Miri-Moghaddam
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:161
    Content type: Research Published on:

  23. Breast cancer is one of the most common cancers in women, and many people get it every year. The cancer stem cells are maybe crucial role to exacerbates and relapse the breast cancer. Therefore, finding biomar...

    Authors: Armaghan Shirinsokhan, Zahra Azarmehr, Arsalan Jalili, Amin Ebrahimi Sadrabadi, Arman Saadati Partan, Sara Tutunchi and Ahmad Bereimipour
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:159
    Content type: Research Published on:

  24. DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also hete...

    Authors: Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle and Thomas Liehr
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:158
    Content type: Research Published on:

  25. Chronic periodontitis (CP) is a prevalent infectious disease caused by an interplay between pathogens and immune responses. Gene polymorphisms are among the factors that affect susceptibility to CP. This study...

    Authors: Leila Saremi, Marziyeh Shafizadeh, Mohammad Ebrahim Ghaffari, Ehsan Aliniagerdroudbari, Reza Amid and Mahdi Kadkhodazadeh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:157
    Content type: Research Published on:

  26. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. It results from the loss of SMN1 gene, but retention of its paral...

    Authors: Heba A. Hassan, Nagia A. Fahmy, Nagham M. El-Bagoury, Noura R. Eissa, Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki and Mona L. Essawi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:156
    Content type: Research Published on:

  27. Behçet's disease (BD) is a chronic, multi-systemic, recurrent condition that affects the vascular, ocular, mucocutaneous, and central nervous systems. The diagnosis of this disease depends on its clinical feat...

    Authors: Doaa N. Saleh, Abeer Ramadan, Rania Hassan Mohammed, Alshaimaa Rezk L. R. Alnaggar and Eman M. Saleh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:155
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2022 23:160

  28. Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity with increased risk of skin tumors. XP is ...

    Authors: Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch and Fatima Zahra Mernisi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:154
    Content type: Research Published on:

  29. The CYP2D6 gene encodes a crucial enzyme involved in the metabolic pathways of many commonly used drugs. It is a highly polymorphic gene inducing an interethnic and interindividual variability in disease suscepti...

    Authors: Soumaya El Akil, Ezohra Elouilamine, Nassima Ighid and El Hassan Izaabel
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:153
    Content type: Research Published on:

  30. The genetic approach to Marfan syndrome (MFS) has evolved over the last few decades, as has our understanding of the variants’ potential structural and functional consequences. It has been proposed that next-g...

    Authors: Maria Oro, Marina Tarsitano, Maria Rivieccio, Carmelo Piscopo, Maria Teresa Petti, Nenad Bukvic, Matteo Della Monica and Massimiliano Chetta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:152
    Content type: Case Report Published on:

  31. Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cyto...

    Authors: Kumari Pritti, Vineet Mishra, Hetvi Patel, Kushani Patel, Rohina Aggarwal and Sumesh Choudhary
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:151
    Content type: Research Published on:

  32. Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of nephrotic range proteinuria to standard steroid therapy, and is the main cause of childhood renal failure. The identification...

    Authors: Mohammed Abdou, Abeer Ramadan, Basma E. El-Agamy, Mohamed S. EL-Farsy and Eman M. Saleh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:150
    Content type: Research Published on:

  33. Micro-RNAs (miRNAs) have been reported as an emerging biomarker in many cancer types. They are used as diagnostic and prognostic biomarkers and could be considered therapeutic targets in treating the same.

    Authors: M. Kavitha, D. Jayachandran, S. Y. Aishwarya, P. Md. Younus, A. Venugopal, H. W. Suresh Babu, E. Ajay, M. Sanjana, N. Arul and V. Balachandar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:149
    Content type: Review Published on:

  34. As toll-like receptor 4 (TLR4) plays important roles in cellular immunity and TLR4 polymorphisms have been shown to be associated with susceptibility to a range of diseases, the present study aimed to investigate...

    Authors: Sara H. Mahdy, Nour M. Abd Elkader, Nevine A. Kassim and Mostafa M. ElHady
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:148
    Content type: Research Published on:

  35. Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopa...

    Authors: Farah Nur Elina Mohd Atan, Wan Asmuni Wan Mohd Saman, Yuhaniza Shafinie Kamsani, Zalizah Khalid and Amirah Abdul Rahman
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:147
    Content type: Review Published on:

  36. Worldwide, COVID-19’s death rate is about 2%, considering the incidence and mortality. However, the information on its complications in other organs, specifically the liver and its disorders, is limited in mil...

    Authors: Babak Sokouti
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:146
    Content type: Research Published on:

  37. Coronavirus disease 2019 (COVID-19) is an ongoing pandemic which has emerged as a new challenge for the medical sciences. Severity of COVID-19 is mostly determined with overexpressed proinflammatory cytokines ...

    Authors: Saliha Rizvi, S. Mohd.Shiraz Rizvi, Syed Tasleem Raza, Mohd. Abbas, Kaynat Fatima, Zeashan H. Zaidi and Farzana Mahdi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:145
    Content type: Research Published on:

  38. This study was conducted to accomplish a better insight into the impact of single nucleotide polymorphisms (SNPs) of nicotinic acetylcholine receptors (nAChR) at the risk of Alzheimer’s disease (AD) and their ...

    Authors: Solmaz Mohammadi, Javad Mahmoudi, Fereshteh Farajdokht, Milad Asadi, Parya Pirsarabi, Seyedeh Farrokh Kazeminiaei, Sepideh Parvizpour and Saeed Sadigh-Eteghad
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:144
    Content type: Research Published on:

  39. Circulating tumor cells represent an opportunity for the assessment of early recurrent disease or for real-time tracing of cancer. Glucose Regulated Protein 78 (GRP78) is known in the literature as a stress facto...

    Authors: Busra Aynekin, Hilal Akalin, I. Ipek Muderris, Gokhan Acmaz, Hulya Akgun, Izem Olcay Şahin, Nuriye Coşkun Gokce, Zahraa Alzaidi, Gözde Erturk Zararsiz, Yusuf Ozkul, Munis Dundar and Çetin Saatci
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:143
    Content type: Research Published on:

  40. Sepsis reaction is a response to an infection composed of genetic elements. This research aims to better understand how sepsis affects the molecular pathways in whole blood samples.

    Authors: Abdallah Ahmed Elbakkoush, Anas Khaleel, Albakush Nura Ahmed Mohamed and Ahmad Alathamneh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:142
    Content type: Research Published on:

  41. Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development ...

    Authors: Hugo H. Abarca-Barriga, Felix Chavesta Velásquez and Renzo Punil Luciano
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:141
    Content type: Case Report Published on:

  42. Coronavirus disease 2019 (Covid-19) is an infectious worldwide pandemic triggered by severe acute respiratory coronavirus 2 (SARS-CoV-2). This pandemic disease can lead to pro-inflammatory activation with asso...

    Authors: Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Engy Elekhnawy and Gaber El-Saber Batiha
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:140
    Content type: Review Published on:

  43. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this study was to collect all PTS gene variants detected among Iranian patients w...

    Authors: Sahand Khamooshian, Mohsen Kazeminia and Keivan Moradi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:139
    Content type: Research Published on:

  44. We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.

    Authors: Heba Saed El-Amawy and Heba Dawoud
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:138
    Content type: Case Report Published on:

  45. G-protein-coupled receptor (GPCR) kinases (GRKs) interact with ligand-activated GPCR, causing intracellular phosphorylation and interfering with the intracellular signal transduction associated with the develo...

    Authors: Adam Hermawan and Herwandhani Putri
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:137
    Content type: Research Published on:

  46. Genetic background of nasal-bronchial allergy (NBA) is well documented. House Dust Mites (HDMs) are reported to elicit NBA symptoms. Susceptibility to HDM sensitization varies considerably from person to perso...

    Authors: Debarati Dey, Priti Mondal, Saibal Moitra, Goutam Kumar Saha and Sanjoy Podder
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:136
    Content type: Research Published on:

  47. Non-communicable diseases such as cardiovascular diseases, respiratory diseases and diabetes contribute to the majority of deaths in India. Public health programmes on non-communicable diseases (NCD) preventio...

    Authors: Anjaly Joseph, Maradana Thirupathamma, Elezebeth Mathews and Manickavelu Alagu
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:135
    Content type: Review Published on:

  48. Osteoarthritis (OA) is a highly prevalent medical condition which represents a high impact on public health. In addition, the underlying etiology still has been unelucidated. Osteoarthritis is a multifactorial...

    Authors: Noha Abdelhady Abdelsadek Mostafa, Ibrahim Khalil Ibrahim, Neveen Lewis Mikhael and Emmanuel Kamal Aziz Saba
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:134
    Content type: Research Published on:

  49. Research on the role of variations in the mitochondrial genome in pathogenesis of acute lymphoblastic leukemia (ALL) has been unfolding at a rapid rate. Our laboratory has previously described higher number of...

    Authors: Ayushi Jain, Amit Katiyar, Ritika Singh, Sameer Bakhshi, Harpreet Singh, Jayanth Kumar Palanichamy and Archna Singh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:133
    Content type: Research Published on:

  50. Rheumatoid arthritis (RA) is an autoimmune disease in which the immune system attacks the tissues of the joints by mistake. Different factors—either genetic or environmental—affect the development of the RA di...

    Authors: Alaa M. Ibrahim, Nada M. Hassan, Mohamed N. Saad, Mai S. Mabrouk and Olfat G. Shaker
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:132
    Content type: Research Published on:
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  • ISSN: 2090-2441 (electronic)