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Egyptian Journal of Medical Human Genetics
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  1. 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:

  2. 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:

  3. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. 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:

  16. 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:

  17. 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:

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. Metabolic syndrome (MetS) is characterized by visceral obesity, elevated blood pressure and fasting blood glucose, increased triglycerides, and lower high-density lipoprotein cholesterol. MetS related with int...

    Authors: Nur Sakinah Harun, Azizul Fadzli Wan Jusoh, Mohd Adzim Khalili Rohin, Rosliza Yahaya, Nik Ahmad Shaifuddin Nik Him and Mohd Nizam Zahary
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:44
    Content type: Research Published on:

  35. 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:

  36. Achromatopsia is an autosomal recessive disease characterized by poor visual acuity, lack of color vision, nystagmus, and marked photophobia. The symptoms can be extremely disabling, and at present, there is n...

    Authors: Kumari Pritti, Vineet Mishra, Udhaya Kotecha and Somesh Aggarwal
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:42
    Content type: Case Report Published on:

  38. Infertility is a widespread issue that affects over five million couples globally. The cause of this condition can be related to women, men, or both. Male infertility, as a clinical disorder, can be caused by ...

    Authors: Roya Sinaei, Khosro Jamebozorgi, Hossein Mirshekarpour, Hossein Poormasoumi, Amirhossein Mahdizadeh, Zahra Akbari and Eskandar Taghizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:40
    Content type: Review Published on:

  39. Hearing loss occurs during various periods of life. Around half of the world's hearing loss is considered to be inherited or genetic. Audiologists play a key role in educating the patient/family about the orig...

    Authors: Harini Madhu, Sathya Harinath and Venkatachalam Deepa Parvathi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:39
    Content type: Research Published on:

  41. Inter-individual variations in the clinical manifestations of SARS-CoV-2 infection are among the challenging features of COVID-19. The known role of telomeres in cell proliferation and immune competency highli...

    Authors: Ata Mahmoodpoor, Sarvin Sanaie, Maqsoud Eskandari, Nazila Behrouzi, Majid Taghizadeh, Faranak Roudbari, Babak Emamalizadeh, Nasim Sohrabifar and Somayeh Kazeminasab
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:37
    Content type: Research Published on:

  42. Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakne...

    Authors: Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani and Jaber Lyahyai
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:36
    Content type: Research Published on:

  43. There are limited data on family screening and genetic testing in pediatric cardiomyopathy from India. This study was conducted to describe the morphologic spectrum and identify potential familial and genetic ...

    Authors: Dheeraj D. Bhatt, Susi Mathews, Vanshika Ahuja, Uzma Shamim, Bharathram Uppilli, Shreya Bari, Dinesh Kumar and Faruq Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:35
    Content type: Research Published on:

  44. Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzym...

    Authors: Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:34
    Content type: Case Report Published on:

  45. Prostatic adenocarcinoma is the most frequent malignancy among elderly men after lung cancer, which has the second incidence and the fourth mortality rate in the Iranian population. The primary objective of th...

    Authors: Abbas Rahimi, Seyed Abdolhamid Angaji, Gilda Karimi, Behnaz Beikzadeh, Raheleh Roudi and Behzad Narouie
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:33
    Content type: Research Published on:

  46. Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disabilit...

    Authors: Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura and Ricardo González-Tarancón
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:32
    Content type: Case Report Published on:

  47. Tyrosine kinase inhibitors (TKIs) are prescribed as a targeted therapy to treat chronic myeloid leukemia patients. A challenge in clinical practice is that despite excellent efficacy and improved clinical resp...

    Authors: Erfan Zaker, Negar Nouri, Sepehr Sorkhizadeh, Hamidreza Ghasemirad, Amir Hossein Hajijafari and Fateme Zare
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:31
    Content type: Review Published on:

  48. Authors: Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman and Muhsin Elmas
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:30
    Content type: Correction Published on:

    The original article was published in Egyptian Journal of Medical Human Genetics 2023 24:16

  49. Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusio...

    Authors: Nora N. Esmaiel, Engy A. Ashaat, Ghada M. Al-Ettribi, Alaaeldin Fayez, Sonia A. Alsaiedi and Mona O. El Ruby
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:29
    Content type: Research Published on:

  50. A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function. Common symptoms of congenital hypothyroidism (CH) include cons...

    Authors: Heba Elsedfy and Radwa Gamal
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:28
    Content type: Case Report 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)