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Egyptian Journal of Medical Human Genetics
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  1. Turner syndrome (TS) is a rare disorder associated either with complete or partial loss of one X chromosome in women. The information on the genotype–phenotype relationship in TS is inadequate. Comparing the h...

    Authors: Anam Farooqui, Naaila Tamkeen, Safia Tazyeen, Sher Ali and Romana Ishrat
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:23
    Content type: Research Published on:

  2. Type 2 diabetes mellitus (T2DM) is considered to be a polygenic disorder that emerges as a result of complicated gene-environment interactions. Several investigations revealed that SLC30A8 rs13266634 polymorphism...

    Authors: Farhana Siddiqi Mitu, Md. Murad Hossain, Shuvo Chandra Das, Md. Mafizul Islam, Dhirendra Nath Barman and Shipan Das Gupta
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:22
    Content type: Research Published on:

  3. The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities.

    Authors: Hala T. El-Bassyouni, Engy A. Ashaat, Khaled Hamed, Maha Rashed, Azza E. Abd-Elnaby and Marwa Shehab
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:21
    Content type: Case Report Published on:

  4. Anterior segment dysgenesis (ASD) disorders comprises of spectrum of developmental conditions affecting the structures of angle of anterior chamber including cornea, iris, and lens. These conditions are charac...

    Authors: Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri and Manisha Chhetry
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:20
    Content type: Case Report Published on:

  5. Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ pathway in lymphocytes. CARD11 deficiency can be inherited in either auto...

    Authors: Safa Meshaal, Rabab El Hawary, Dalia Abd Elaziz, Alia Eldash, Rania Darwish, Aya Erfan, Sohilla Lotfy, Mai M. Saad, Engy Chohayeb, Radwa Alkady, Jeannette Boutros, Nermeen Galal and Aisha Elmarsafy
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:19
    Content type: Research Published on:

  6. Breast cancer (BC) is the most common female cancers in many countries including Syria. Familial breast cancer or previous family cancer history are considered significant risk factors. Therefore, detecting th...

    Authors: Salma Wahabi Alzahabi, Maher Saifo and Ghalia Abou Alchamat
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:18
    Content type: Research Published on:

  7. The present study was undertaken to examine the role of IL-4 (− 590 C/T) (rs2243250) and IL-6 (− 174G/C) (rs1800795) polymorphism and the serum levels of IL-4 and IL-6 in chronic kidney disease (CKD).

    Authors: Vandit Sevak, Rathika Chinniah, Sasiharan Pandi, K. Sampathkumar, T. Dinakaran and Balakrishnan Karuppiah
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:17
    Content type: Research Published on:

  8. Isolated growth hormone deficiency (IGHD) is a hereditary disorder that causes significant short stature. GHD has a reported incidence of 1/4000–1/10,000 births. It is caused by mutations in the major somatotr...

    Authors: Tamer H. A. Ammar, Ghada M. M. Al-Ettribi, Maha M. A. Abo Hashish, Tarek M. Farid, Amany A. Abou-Elalla and Manal M. Thomas
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:16
    Content type: Research Published on:

  10. Cellular and molecular changes occur during aging, decreasing organ function. The aging process was measured by several biomarkers, including DNA methylation (DNAm), an epigenetic change regulating gene expres...

    Authors: Noha M. El-Shishtawy, Fatma M. El Marzouky and Hanan A. El-Hagrasy
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:14
    Content type: Research Published on:

  11. According to the increasing trend of COPD, the timely diagnosis and treatment of the disease can reduce the high costs to the health systems. Therefore, by biological calculation methods, signaling pathways an...

    Authors: Mohammad Maboudian, Elham Amjad, Solmaz Asnaashari, Siavoush Dastmalchi, Babak Sokouti and Yousef Javadzadeh
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:13
    Content type: Research Published on:

  12. Apoptosis, also known as the programmed death of cells, is responsible for maintaining the homeostasis of tissues, and this function is carried out by caspases. The process of apoptosis is carried out via two ...

    Authors: Md. Saddam, Shamrat Kumar Paul, Mohammad Ahsan Habib, Md. Abrar Fahim, Afsana Mimi, Saiful Islam, Bristi Paul and Md Mostofa Uddin Helal
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:12
    Content type: Review Published on:

  13. Long non-coding RNAs, known as LncRNAs, have demonstrated a robust association with the pathogenesis of stroke. NRON and SNHG are among the most extensively studied lncRNAs in the context of atherosclerosis an...

    Authors: Negin Gharbi, Hamideh Mahmoudinasab, Etrat Hooshmandi, Mousa Rahimi, Mahnaz Bayat, Najmeh Karimi, Seyedeh Shamim Hojati, Zoofa Zayani, Reza Tabrizi and Afshin Borhani-Haghighi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:11
    Content type: Research Published on:

  14. COVID-19 has its life-threatening complications more pronounced in people with underlying health conditions such as diabetes, cardiovascular disease and kidney disease. Inhibition of the sodiumglucose cotransp...

    Authors: Anamika Das and Gunanidhi Dhangadamajhi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:10
    Content type: Correspondence Published on:

  15. Several reports discussed a connection between CD36 genotypes associated with obesity, influencing the development of Type 2 diabetes mellitus (T2DM). Therefore, this study examines the prognostic value of CD3...

    Authors: Ashwin Kumar Shukla, Amreen Shamsad, Atar Singh Kushwah, Shalini Singh, Kauser Usman and Monisha Banerjee
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:9
    Content type: Research Published on:

  16. Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpre...

    Authors: Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati and Morteza Oladnabi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:8
    Content type: Research Published on:

  17. Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous mi...

    Authors: Brooke M. Dunleavy, Alison J. Schildt, Caitlin Harrington and David A. Stevenson
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:7
    Content type: Case Report Published on:

  18. Metabolic dysregulation leading to diabetes is a major public health concern in India. While evidence has pointed to a role for genetic factors, there is still limited knowledge regarding the specific variants...

    Authors: Jessy Abraham, Deepak Mahapatra, Pratishtha Agrawal and Mary Jovita James
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:6
    Content type: Research Published on:

  19. Abnormal folate metabolism is a risk factor for DNA hypomethylation and chromosomal nondisjunction. MTHFR is a candidate gene for folliculogenesis and ovarian development. In the present study, we aimed to inv...

    Authors: Priyanka M. Sanghavi and Divya Chandel
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:5
    Content type: Research Published on:

  20. Autophagy-related genes (ATGs), associated with autophagy, contribute to the pathogenesis of many illnesses, including cancer. ATGs’ role in breast cancer (BC) is still under investigation. Therefore, the curr...

    Authors: Sara F. Saadawy, Ahmed Raafat and Walaa E. Omar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:4
    Content type: Research Published on:

  21. Insulin-like growth factor 2 (IGF2) mRNA-binding proteins 2 (IGF2BP2/IMP2), an RNA-binding protein encoded by the IGF2BP2 gene, exerts its influence across diverse pathological pathways. While accumulating evi...

    Authors: Hong-Lu Zhou, Dan-Dan Chen and Xiu-Ling Li
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:3
    Content type: Research Published on:

  22. Multiple sclerosis (MS) is a long-term disease that can lead to disability. microRNAs (miRNA) can provide noninvasive markers allowing more frequent and easy testing in MS. Treatment methods based on manipulat...

    Authors: Noha Mohamed Hosny Shaheen, Mai Mahmood Sherif Salahe Eldain Sherif, Amr Hassan El Sayed, Marwan Mohamed El Toukhy, Shaimaa Raafat Metwally Sayed Ahmed, Lamees Ahmed Samy and Hend Hamed Tamim
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:2
    Content type: Research Published on:

  23. The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megalobl...

    Authors: Juan Luo, Xiaohong Chen, Hongxi Guo, Peiwei Zhao, Hui Yao, Lifang Feng and Luhong Yang
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:1
    Content type: Case Report Published on:

  24. Gastric cancer (GC) is currently the fifth most common malignancy. Accumulating evidence has recently revealed that maladjustments of diverse long non-coding RNAs may play key roles in multiple genetic and epi...

    Authors: Tooraj Ghasemzadeh, Ali Rajabi, Elaheh MalekAbbaslou, Parisa Najari, Sama Akbarzadeh, Samaneh Tayefeh-Gholami, Shahram Teimourian, MohammadAli Hosseinpourfeizi and Reza Safaralizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:87
    Content type: Research Published on:

  25. Thalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalasse...

    Authors: Esraa Elmorsi Abdelaziz Elderini, Amira Mohamed ELTohamy, Mona Hassan EL-Tagui and Mariam Saad Nassim
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:86
    Content type: Research Published on:

  26. Breast cancer is a complex disease due to its extremely complicated and varied etiology. It is found to be linked to improper transcription factor activation that interferes with normal breast development. Amo...

    Authors: Nassima Ighid, Soumaya El Akil and El Hassan Izaabel
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:85
    Content type: Research Published on:

  27. Developed countries have a high mortality rate from atherosclerosis and are frequently linked to inflammation and other blood lipid disorders. MicroRNA expression can affect atherosclerotic plaque formation, l...

    Authors: Samira Ehsani, Maysam Mard‑Soltani, Fatemeh Ahmadpour and Gholamreza Shahsavari
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:84
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2024 25:15

  28. Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontoge...

    Authors: Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez and Ricardo González-Tarancón
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:83
    Content type: Case Report Published on:

  29. The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skill...

    Authors: David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado and Silvia Izquierdo Álvarez
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:82
    Content type: Case Report Published on:

  31. Coronavirus disease 2019 (COVID-19) is an infectious disease brought on by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a global treat in early 2020. Despite worldwide research proving dif...

    Authors: Ishola Abeeb Akinwumi, Barakat Olamide Ishola, Oluwatosin Maryam Adeyemo and Adefolarin Phebean Owojuyigbe
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:80
    Content type: Research Published on:

  32. Type 2 diabetes mellitus is believed to be associated with microvascular complications which include diabetic retinopathy, nephropathy, and neuropathy. Oxidative stress plays a predominant role in the pathogen...

    Authors: Farhana Begum and Karpagavel Lakshmanan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:79
    Content type: Review Published on:

  33. Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that have been linked to progression to advanced phase. Genomic study linked amplified gene...

    Authors: Hend Attia, Dina Adel Fouad and Heba Samy
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:78
    Content type: Research Published on:

  34. Acute ischemic stroke (AIS) is one of the leading contributors to death and disability in adults. And cuproptosis is a novel type of cell death. Yet, its role in AIS is still unknown.

    Authors: Fang Jia, Bingchang Zhang, Chongfei Li, Weijie Yu, Zhangyu Li and Zhanxiang Wang
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:77
    Content type: Research Published on:

  35. B-lymphocyte-activating factor (BAFF) is a cytokine involved in regulating the development and maturation of B lymphocyte and has been shown to be up-regulated in patients with Graves’ disease (GD). However, t...

    Authors: Hiba Y. Ibrahim, Ghassan M. Sulaiman, Ali H. Ad’hiah and Mohamed S. Al-shammaa
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:76
    Content type: Research Published on:

  36. Depression is a common psychiatric disorder that negatively affects mood and thoughts. Association studies of OXTR polymorphisms with depression have been performed repeatedly. However, the results of these studi...

    Authors: Moez Eid, Ekaterina G. Derevyanchuk and Elena V. Butenko
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:75
    Content type: Meta-Analysis Published on:

  38. Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be associated with different factors including maternal, fetal, and environmental. However, th...

    Authors: Dema Alset, Elena Viktorovna Butenko, Inna Olegovna Pokudina, Tatiana Pavlovna Shkurat, Ekaterina Andreevna Zabanova and Natalia Borisovna Kuznetsova
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:73
    Content type: Research Published on:

  39. In some β-thalassemia intermedia patients, hydroxyurea (HU) increases hemoglobin and HbF levels. However, HUs’ effects molecular mechanism is still unclear.

    Authors: Akram Agha-Amini Fashami, Esmat Alemzadeh, Hossein Safarpour and Ebrahim Miri-Moghaddam
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:72
    Content type: Research Published on:

  40. Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global increase in the prevalence of COPD, research on the genetic factors that predispose to...

    Authors: Tahmina Soomro, Manthar Ali Mallah, Zaka Un Nisa, Naeem Asim, Reema Aslam, Akriti Kafle and Nafeesa Khatoon
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:71
    Content type: Research Published on:

  41. In cancer cells, the balance between proliferation and apoptosis is disturbed. There is a direct relationship between gene expression and the process of apoptosis. The two genes involved in apoptosis are Bax and

    Authors: Fatemeh Bojar Doulaby, Mahsa Kavousi and Faranak Jamshidian
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:70
    Content type: Research Published on:

  42. After renal transplantation, renal graft function affects both patient and graft survival. There is growing evidence of the genetic association between interleukin-1β (IL-1β) or its receptor antagonist (IL-1RN) a...

    Authors: Marianne Samir Makboul Issac and Maggie S. El Nahid
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:69
    Content type: Research Published on:

  43. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiological agent responsible for the onset of coronavirus disease 2019 (COVID-19), elicits a wide range of clinical manifestations, spanning f...

    Authors: Reema Mohammed Abed, Hadeel Waleed Abdulmalek and Laith Ahmad Yaaqoob
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:68
    Content type: Research Published on:

  44. Neurodevelopmental disorders are disorders that are generally seen in the early developmental period of an individual's life and involve more than one disease that causes disruptions in the central nervous sys...

    Authors: Mehmet Manaz, Ömer Faruk Karasakal, Ebru Özkan Oktay and Mesut Karahan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:67
    Content type: Research Published on:

  45. The prevalence of type 2 diabetes mellitus (T2DM) has been increasing rapidly in Iraq over the past few decades. Identifying the most significant factors contributing to the development of T2DM is crucial to r...

    Authors: Karar N. J. Musafer, Mohammad Rava, Ali Sabah Chobok, Shaharum Shamsuddin, Masar Riyadh Rashid Al-Mousawi and Fahrul Hayup
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:66
    Content type: Meta-Analysis Published on:

  46. Neurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. In particular, neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain...

    Authors: Donya Ghazi-Nader, Behnam Karimi, Reza Alibakhshi and Maziar Ganji
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:65
    Content type: Research Published on:

  47. Histocompatibility and Immunogenetics (H&I) laboratories have currently a significant relevance in clinical and research medical fields. The purpose of this review is to investigate their role through an excursus

    Authors: Donato Madalese, Rosaria Casalino, Laura Auriemma, Rosa Colucci, Antonio Di Maio, Francesco Paolo Tambaro and Roberta Penta de Vera d’Aragona
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:64
    Content type: Review Published on:

  48. Cancer results from the accumulation of mutations in critical genes, such as DNA repair genes. But these genes are a double-edged sword, because the basis of current cancer treatment is DNA damage from chemoth...

    Authors: Ehsan Zarei and Iraj Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:63
    Content type: Research Published on:

  49. Breast cancer is a common cause of cancer death among women with a complex and heterogeneous picture in histological, molecular and clinical features. The aim of this study was to identify hub gene and their t...

    Authors: Seyed Masoud Rezaeijo, Monireh Rezaei, Arash Poursheikhani, Shima Mohammadkhani, Naieme Goharifar, Ghazal Shayankia, Sahel Heydarheydari, Alihossein Saberi and Eskandar Taghizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:62
    Content type: Research Published on:

  50. Plasma cell neoplasm is characterized by complex genetic and prognostic heterogeneity. FAM72D, a gene located on chromosome 1, and the association between its expression and tumor progression and prognosis rem...

    Authors: Riham Ahmed Ramadan Ahmed, Manal Hashem Ahmed Fayek, Doaa Ahmed Gamal Eissa, Mohammed Mahmoud Moussa, Noha Bassiouny Hassan and Dalia Diaa ElDine Salem
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:61
    Content type: Research Published on:
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  • 2022 Citation Impact
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  • ISSN: 2090-2441 (electronic)