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Egyptian Journal of Medical Human Genetics
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Articles

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  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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

  11. 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:

  12. 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:

  14. 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:

  15. 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:

  16. 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:

  17. 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:

  18. 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:

  19. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  35. Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic kidney disease, affecting at least one in 5000 individuals worldwide. AS is caused by COL...

    Authors: Ibrahim Sahin, Nefise Kandemir and Hanife Saat
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:59
    Content type: Research Published on:

  36. Male infertility is rapidly growing, and single nucleotide polymorphism (SNP) association studies are of critical importance. Tumor suppressor candidate 1 (TUSC1) gene is associated with azoospermia. We invest...

    Authors: Zahra Vahidi Emami, Masoud Sheidai and Naser Kalhor
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:58
    Content type: Research Published on:

  37. Hepatocellular carcinoma (HCC) is a common, serious malignancy with a dismal prognosis. As HCC is frequently missed in its early stages, non-invasive early detection is urgently needed. The purpose of this stu...

    Authors: Marwa Sayed Abdel-Tawab, Hanan Fouad, Doaa Mahmoud Khalil, Saeed Shaaban, Shaymaa Nafady, Hanan Hosni Moawad, Heba Ahmed Mostafa, Soha Mahmoud Abdel-Salam, Naglaa Adly Abd Elazeem and Alaa A. Mohamed
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:57
    Content type: Research Published on:

  38. Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, caused by a balanced reciprocal translocation (t(9;22) (q34;q11)) that leads to the formation of BCR (Breakpoint Cluster Region)-ABL (Abe...

    Authors: Ajeet Kumar, Vatsal Mishra, Chandra Bhan Singh, Rashmi Patel, Siddharth Samrat, Madhukar Rai, Nilesh Kumar, Vijay Tilak, Vineeta Gupta and Akhtar Ali
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:56
    Content type: Research Published on:

  39. In Iran, lung cancer is the third most common type of cancer and its prevalence is increasing rapidly. Identification informative genetic polymorphisms in cancer causing genes including epidermal growth factor...

    Authors: Milad Pezeshki, Sayed Mostafa Hosseini, Jamshid Ansari and Azam Ahmadi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:55
    Content type: Research Published on:

  40. Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain. The disease can be manifested with hepatic, neurologic...

    Authors: Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini and Abdelaziz Sefiani
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:54
    Content type: Case Report Published on:

  41. Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. Genetic predisposition plays a key role in the development and progression of the diseas...

    Authors: Saumya Madushani Samarasinghe, Asanka Sudeshini Hewage, Rohan Chaminda Siriwardana, Kamani Hemamala Tennekoon, Madunil Anuk Niriella and Sumadee De Silva
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:53
    Content type: Review Published on:

  42. Angiotensin-converting enzyme (ACE) gene polymorphism and elevated apolipoprotein B (apoB) are important risk factors for several cardiometabolic abnormalities. However, much less attention has been given to t...

    Authors: Seyielenuo Suokhrie, Vineet Chaudhary, Sumit Mishra, Benrithung Murry and Naorem Kiranmala Devi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:52
    Content type: Research Published on:

  43. Flavin monoamine oxidase gene encodes a protein (MAOB) that forms a part of the flavin monoamine oxidase family in the outer membrane of mitochondria. It plays a role in the tissue metabolism of neuroactive an...

    Authors: Mohammad Habibur Rahman Molla, Amer H. Asseri and Md. Shafiqul Islam
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:51
    Content type: Research Published on:

  44. Organic anion transporters and efflux transporters are involved in the metabolism of drugs such as tenofovir disoproxil fumarate (TDF). Given the important role of organic anions and efflux transporters in dru...

    Authors: Nicholas Ekow Thomford, Faustina Adu, Cyril Gavor-Kwashi, Samuel Badu Nyarko, Paul Nsiah, Richard Dadzie Ephraim, George Adjei and Akwasi Anyanful
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:50
    Content type: Research Published on:

  46. Certain serum levels of microRNAs (miRNAs) throughout the body can be helpful for cancer diagnosis and prognosis. The miRNAs can be secreted from the papillary thyroid cancer (PTC) into the circulatory system....

    Authors: Gholam-Reza Mobini, Homayon Yousefi, Ali Shojaeian, Mahmood Mirhoseini and Mohammad-Reza Mahmoudian-Sani
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:48
    Content type: Research Published on:

  47. LHPP is a tumor suppressor protein associated with various malignancies like liver, oral, pharyngeal, bladder, cervical, and gastric cancers through controlling various pathways. Several single nucleotide vari...

    Authors: Tasmiah Feroz and Md. Kobirul Islam
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:47
    Content type: Research Published on:

  48. The hematopoietic malignancy acute myeloid leukemia is a fatal disease with poor clinical prognoses. Long non-coding RNA taurine-upregulated gene1 (lncRNA TUG1) and zinc finger E-box binding homeobox 2 antisense ...

    Authors: Amira Mohamed Noureldin Abdelrahman, Safia Mohammed Diab, Howyda Moh. Kamal Shabaan, Mai Nasser Abdelmomen Ahmed and Reem Nabil
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:46
    Content type: Research Published on:

  49. Chronic sinusitis is one of the most challenging health problems of contemporary society. Although several treatment methods have been defined, a comprehensive understanding of the underlying causes (e.g., ant...

    Authors: Mojdeh Arian Nejad, Milad Sabaei, Alireza Ahmadi, Sara Minaeian, Danesh Amin Panah and Kimia Mozahheb Yousefi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:45
    Content type: Research Published on:

  50. Male infertility is a complex, multifactorial pathological condition with a highly heterogeneous phenotypic variation, from complete absence of spermatozoa in the testicles (azoospermia) to marked changes in s...

    Authors: Irem Yildiz, Nevin Karakus and Fikret Erdemir
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:43
    Content type: Research Published on:
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  • Citation Impact 2023
    Journal Impact Factor: 1.2
    5-year Journal Impact Factor: N/A
    Source Normalized Impact per Paper (SNIP): 0.393
    SCImago Journal Rank (SJR): 0.362

    Speed 2023
    Submission to first editorial decision (median days): 20
    Submission to acceptance (median days): 179

    Usage 2023
    Downloads: 421,231
    Altmetric mentions: 237

  • ISSN: 2090-2441 (electronic)