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Egyptian Journal of Medical Human Genetics
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  1. Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 g...

    Authors: Dalida El Khatib, Moussa Hojeij, Sandra Sabbagh, Cybel Mehawej, Eliane Chouery, Seung Woo Ryu, JiHye Kim and Andre Mégarbané
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:54
    Content type: Review Published on:

  2. Statins are well known for their efficacy to improve lipid profiles. Their efficacy varies between individuals and can be modified by patient factors such as genetic polymorphisms. This study used a cross-sect...

    Authors: Amirul Faez Shamsudin, Sarina Sulong, Imran Ahmad and Nur Salwani Bakar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:53
    Content type: Research Published on:

  3. The CXCR4 chemokine receptor is a G protein-coupled receptor that plays a role in many physiological processes and diseases, such as cancer metastasis, HIV infection, and immune response. Because of this, it m...

    Authors: Cesarius Singgih Wahono, Mokhamad Fahmi Rizki Syaban, Mirza Zaka Pratama, Perdana Aditya Rahman and Nabila Erina Erwan
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:52
    Content type: Research Published on:

  4. It is known that BRCA1 and BRCA2 genes’ mutation carriers are predisposed to breast and ovarian cancers and other organ cancers such as prostate, colon and cervix. In the previous study performed at X University,...

    Authors: Tuğba Semerci Sevimli, Murat Sevimli, Ayşe Esra Manguoğlu and Güven Lüleci
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:51
    Content type: Research Published on:

  5. Artificial intelligence (AI) has shown great promise in the field of healthcare as a means of improving the diagnosis of skin cancer. The objective of this research is to enhance the precision and effectivenes...

    Authors: S. P. Angelin Claret, Jose Prakash Dharmian and A. Muthu Manokar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:50
    Content type: Research Published on:

  6. Hepatocellular carcinoma (HCC) is a severe threat and a main reason for cancer-related deaths around the world. Drug resistance to sorafenib (Sorf), the effective HCC first-line therapy, is very common. A numb...

    Authors: Sara A. Nusair, Gehan Galal and Sara M. Radwan
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:49
    Content type: Research Published on:

  9. Iron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a serious public health concern worldwide. The aim of this study is to deter...

    Authors: Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada and Siti Nur Nabeela A’ifah Mohammad
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:46
    Content type: Research Published on:

  10. Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an...

    Authors: Iraj Zareban, Zahra Oudi-Akbari, Mohammad Saeed Jadgal, Hossein Ansari and Jamshid Hosseinzehi Zamani
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:45
    Content type: Research Published on:

  11. The histone deacetylase (HDAC) family plays a significant role in a variety of biological processes related to cancer, such as metabolism and cancer progression, and recognized as a target of anti-cancer drugs...

    Authors: Changsheng Chen, Ke Wang, Yu Zhang, Yixin Qi, Chong Shen, Zhe Zhang, Zongliang Zhang, Han Yang and Hailong Hu
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:44
    Content type: Research Published on:

  12. Cognitive impairment and depression are two common mental health conditions affecting millions worldwide. CI and depression both have complex etiology and multiple genetic and environmental factors are thought...

    Authors: Apoorva Sharma, Vineet Chaudhary, Mamta Kumari Thakur, Naorem Kiranmala Devi and Kallur Nava Saraswathy
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:43
    Content type: Research Published on:

  13. Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNA methyltransferase (MGMT) in glioblastoma (GBM) have been of great interest due to their implications in prediction of prognosis of several types...

    Authors: Magda Sayed Mahmoud, Mohamed K. Khalifa, Amira M. Nageeb, Lobna R. Ezz El-Arab, Manal El-Mahdy, Amal Ramadan, Maha Hashim, Noha M. Bakr and Menha Swellam
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:42
    Content type: Research Published on:

  14. The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding...

    Authors: Homa Akhavan Aghghaleh, Najmeh Ranji and Hadi Habibollahi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:41
    Content type: Research Published on:

  16. Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermor...

    Authors: Devalina Junahar, Rinesia Dwiputri, Wirawan Adikusuma, Darmawi Darmawi, Afdal Afdal, Lalu Muhammad Irham and Suyanto Suyanto
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:39
    Content type: Research Published on:

  17. Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up ...

    Authors: Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar and Maryam Naseroleslami
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:38
    Content type: Research Published on:

  18. WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R)...

    Authors: Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim and Houda Benrahma
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:37
    Content type: Case Report Published on:

  19. Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family mem...

    Authors: Rawan A. Nijeeb, Adnan A. Aljber and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:36
    Content type: Research Published on:

  20. Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple ...

    Authors: Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes and Teresa Collazo Mesa
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:35
    Content type: Research Published on:

  21. Adiponectin and leptin are pivotal in the regulation of metabolism. Pediatric lupus nephritis (pLN), a manifestation of childhood systemic lupus erythematosus (SLE) affecting the kidneys, is associated with im...

    Authors: Gloria Garavito De Egea, Alex Domínguez-Vargas, Luis Fang, Nicole Pereira-Sanandrés, Jonathan Rodríguez, Gustavo Aroca-Martinez, Zilac Espítatela, Clara Malagón, Antonio Iglesias-Gamarra, Ana Moreno-Woo, Guillermo López-Lluch and Eduardo Egea
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:34
    Content type: Research Published on:

  22. This review article gives an insight into the genetic factors and the role of pancreatic amylase in type 2 diabetes (T2D). Diabetes is a non-communicable, multifactorial, heritable, complex, and irreversible d...

    Authors: Mutiat A. Abdulkareem, Bunmi A. Owolabi, Emmanuel S. Saheed, Remilekun F. Aromolaran, Rukayat M. Bashiru, Toheeb A. Jumah, Doris U. Chijioke, Onyinyechi J. Amaechi, Fehintoluwa C. Adeleke, Omiyale O. Charles and Tunde S. Oluokun
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:33
    Content type: Review Published on:

  23. 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical...

    Authors: Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova and Andrey Glotov
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:32
    Content type: Research Published on:

  25. Gene editing can produce irreversible permanent changes to the genetic material at predetermined sequences, avoiding random integration, which is the major drawback of classical gene therapy. The technology ha...

    Authors: Wessam Sharaf-Eldin
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:30
    Content type: Review Published on:

  26. MicroRNAs have a significant role in the function and development of the hearing system. Idiopathic sudden sensorineural hearing loss (SSNHL) is a complicated disorder with no long-established reason. Since mi...

    Authors: Yalda Jabbari-Moghaddam, Dariush Shanehbandi, Milad Asadi, Saiedeh Razi-Soofiyani and Vahideh Hateftabar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:29
    Content type: Research Published on:

  27. Biotinidase deficiency (BTD) is characterized by a wide range of genetic variants. However, the correlation between these variants and the biochemical phenotypes of BTD is not well-established due to the diver...

    Authors: Murat Karaoglan, Gulper Nacarkahya, Emel Hatun Aytac and Mehmet Keskin
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:28
    Content type: Research Published on:

  28. Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the ...

    Authors: Noura Dahbi, Abderrazak El khair, Khadija Cheffi, Lamiaa Habibeddine, Jalal Talbi, Abderraouf Hilali and Hicham El ossmani
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:27
    Content type: Research Published on:

  29. Coronary artery disease (CAD) is a complex medical condition characterized by atherosclerotic plaque accumulation in coronary arteries, leading to narrowed blood vessels and impaired blood flow. Endothelial dy...

    Authors: Ale Eba, Syed Tasleem Raza, Irshad A. Wani, Zeba Siddiqi, Mohammad Abbas, Sanchita Srivastava and Farzana Mahdi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:26
    Content type: Research Published on:

  31. Despite substantial advancements in gastric cancer treatment in recent years, our understanding of the disease’s pathophysiology and progression processes remains limited, and the prognosis for gastric cancer ...

    Authors: Shixing Zhao, Wenbo Zhao, Chunxia Yao and Yunxiao Tian
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:24
    Content type: Meta-Analysis Published on:

  32. 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:

  33. 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:

  34. 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:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2024 25:75

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:
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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)