Skip to main content
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Cover Image

Articles

Page 1 of 11

  2. A member of the Interleukin-1 superfamily of cytokines, interleukin-18 (IL-18) is essential to the etiology and progression of inflammatory bowel disease (IBD), a chronic inflammatory illness that affects the ...

    Authors: Yahya Jaber Al-ardawy, Ali Hmood Al-Saadi, Mahmoud A. Alkindy, Ammar M. Al-Lsawi and Maksad A. Fadheel
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:81
    Content type: Research Published on:

  3. Diabetic nephropathy (DN) is a frequent and long-lasting microvascular consequence that has an established connection with diabetes. It serves as the primary etiological agent of end-stage renal disease, a cri...

    Authors: Jumana Gamal Abou Eleila, Amal Abdel Wahab Mohamed, Emam Abdalatif Waked, Laila Nessim Kamel, Hanan Shawky Amin and Hadeel Mohammad Elhanafi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:80
    Content type: Research Published on:

  4. Despite extensive research efforts, understanding the precise causes and molecular underpinnings of age-related macular degeneration (AMD) remains elusive. Exploring different populations becomes crucial to es...

    Authors: Fazliana Ismail, Sarni Mat Junit, Lee Ching Chin, Jaime Jacqueline Jayapalan and Visvaraja Subrayan
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:79
    Content type: Research Published on:

  5. Diabetes mellitus is a disease that may result from interaction between environmental factors and a strong genetic component. The current study is aimed at exploring three single nucleotide polymorphisms to id...

    Authors: Galena W. Zareef, Ibrahim M. Moatmed, Nourhan W. Shehata, Mohamed N. Saad and Olfat G. Shaker
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:78
    Content type: Research Published on:

  6. MicroRNAs have been proposed as a novel regulatory biomarker for gene expression and early diagnosis of cancers. In this study, we evaluate the expression level of miR-31-5p in the serum of patients with oral ...

    Authors: Nooshin Mohtasham, Zahra Ghorbani, Hossein Ayatollahi, Fatemeh Arab, Seyed Hamid Aghaee-Bakhtiari, Bashir Rasoulian and Farnaz Mohajertehran
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:77
    Content type: Research Published on:

  7. It is crucial to create a cost-effective work protocol that will guide everyone involved in diagnosing children with dysmorphic features step-by-step and ensure that testing costs are reduced without compromis...

    Authors: Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan and Lyudmila Angelova
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:76
    Content type: Correspondence Published on:

  9. Numerous attempts have been made at both prevention and treatment of COVID-19. Specific genotypes carry a risk of causing clinical symptoms that can be beneficial or detrimental. We performed nutrigenomics tes...

    Authors: Anna Surgean Veterini, Bambang Pujo Semedi, Prananda Surya Airlangga, Khildan Miftahul Firdaus, Akhyar Nur Uhud, Prihatma Kriswidyatomo and Rauzan Sumara
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:74
    Content type: Research Published on:

  10. Small RNA molecules known as microRNAs (miRNAs) regulate gene expression during the post-translational steps. miRNAs are essential for many physiological processes, such as cell division, growth, and prolifera...

    Authors: Soroush Rajabi, Kambiz Sadegi, Sara Hajisobhani, Mania Kaveh and Eskandar Taghizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:73
    Content type: Review Published on:

  11. Hereditary transient neonatal hyperparathyroidism (TNHP) is a rare autosomal-recessive condition caused by variants in TRPV6 gene which encodes for a transient maternal–fetal calcium transport channel. This is...

    Authors: Chanchal Kumar, Sarada Vani, Namita Neelkanth Deshmukh, Sujith Omkaram, Rajeev Pothala, Sushma Poornima Bathina and Deepika Dodda
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:72
    Content type: Case Report Published on:

  12. The unifying hypothesis of competing endogenous RNA (ceRNA) wherein crosstalk between coding (mRNAs) and long non-coding RNAs (lncRNAs) via microRNA (miRNA) response elements, creates a pervasive regulatory ne...

    Authors: Anirban Mukhopadhyay, Prithvi Singh, Ravins Dohare and B. K. Thelma
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:71
    Content type: Research Published on:

  13. Most cancers acquire numerous genetic changes in proto-oncogenes as well as tumor-suppressor genes. Cancer's early diagnosis remains a challenge. Recently, nonlinear polarization has revealed the potential as ...

    Authors: Yasser H. El-Sharkawy, Sherif Elbasuney, Sara M. Radwan, Mostafa A. Askar, Samar H. Rizk and Gharieb S. El-Sayyad
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:70
    Content type: Research Published on:

  14. Pheochromocytoma is a rare disease, and its familial occurrence is quite uncommon. The aim of this paper is to report a three-generation phenotypical expression of a case familial occurrence of pheochromocytoma.

    Authors: Mari Carmen Moran-Espinosa, Héctor Diaz-García, Rocío Sánchez-Urbina, Javier T. Granados-Riveron, Miriam Deyanira Rodriguez-Piña, Ángeles Leyda Avilés-García, Miguel Ángel Rubio-Leal, Karla Ariadna Martínez-Camacho and Hugo Mendieta-Zeron
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:69
    Content type: Case Report Published on:

  15. Recent researches have increasingly indicated a strong correlation between the gut microbiota and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). Nevertheless, the impact of gut microbiota on CP/CP...

    Authors: Hao Xu, Yu Zhang, Yinglang Zhang, Chong Shen, Zhe Zhang, Jian Wang, Diansheng Zhou, Zhouliang Wu, Yunkai Qie, Shenglai Liu, Dawei Tian, Hailong Hu and Changli Wu
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:68
    Content type: Research Published on:

  16. Intellectual developmental disorders with dysmorphic facies and ptosis (IDDDFP) are rare neurological conditions caused by variants in the BRPF1 gene. They primarily manifest as intellectual disabilities (ID) alo...

    Authors: Qian Liu, Feifei Li, Nana Wang and Zhengjun Fan
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:67
    Content type: Research Published on:

  17. This study aimed to explore the relationship between Parkinson’s disease and insertion/deletion polymorphism (I/D) of the angiotensin-converting enzyme gene (ACE) and to highlight the related risk factors within ...

    Authors: Horchi-Mekkaoui Meroua, Achou Rayene, Djoudi Brahim, Laouar Rania, Gharzouli Razika, Taghane Naima, Abadi Noureddine and Satta Dalila
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:66
    Content type: Research Published on:

  18. Gastrointestinal tract (GIT) cancers are complex disorders affecting millions of people worldwide. The vascular endothelial growth factor (VEGF) helps in the development of different GIT cancers by promoting a...

    Authors: Deepanshi Mahajan, Vasudha Sambyal and Kamlesh Guleria
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:65
    Content type: Meta-Analysis Published on:

  19. Colorectal cancer (CRC) is considered as one of the most common malignancy and the fourth leading cause of cancer-related deaths, worldwide. Here, we aimed to investigate the expression of miR–663b and miR–650...

    Authors: Mehdi Valizadeh, Jabar Kamal Mirza Abdalla, Abbas Yazdanbod and Esmaeil Babaei
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:64
    Content type: Research Published on:

  20. Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disorder of unknown etiology and unpredictable course. The aim of the work was to assess the levels of adropin, fibroblast growth factor-1 (...

    Authors: Moushira Zaki, Hisham A. Orban, Marwa Mahmoud, Eman R. Youness, Hoda F. Booles, Wagdy K. B. Khalil, Wafaa Wafy, Kamal A. El-Atrebi, Khaled Hamed and Hala T. El-Bassyouni
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:63
    Content type: Research Published on:

  21. Additional evidence has indicated a correlation between N6-methyladenosine (m6A) RNA methylation and cardiovascular disease. Nevertheless, the alterations in RNA methylation modification and the expression of ...

    Authors: Yeting Li, Kai Ma, Chuanxin Zhao, Nannan Li, Shanshan Li and Man Zheng
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:62
    Content type: Research Published on:

  22. D–Phenotype is linked to abnormal expression of RHCE gene. Consequently, individuals with this condition may develop antibodies against high-prevalence Rh antigens when exposed to a normal Rh phenotype, leading ...

    Authors: Yuanyuan Luo, Chunya Ma, Lihui Fu and Yang Yu
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:61
    Content type: Case Report Published on:

  23. Alpha synuclein (α-synuclein) is coded by SNCA gene and found in a helical form with phospholipids or in an unfolded arrangement in the cytosol and belongs to the synuclein family other than beta synuclein and...

    Authors: Abhishek Sharma, Pragati Mahur, Amit Kumar Singh, Jayaraman Muthukumaran and Monika Jain
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:60
    Content type: Research Published on:

  24. Autism spectrum disorder (ASD) is a complex neurological disability with multifactorial etiology. ASD is described by behavior, speech, language, and communication defects. CircRNA is a type of ceRNA that play...

    Authors: Somayeh Reiisi, Seyed Omar Ebrahimi, Kambiz Ahmadi, Najmeh Nezamabadi Pour and Abbas Jahanara
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:59
    Content type: Research Published on:

  25. Liver fibrosis is a widespread chronic liver ailment linked to substantial mortality and limited therapeutic options. An in-depth comprehension of the genetic underpinnings of liver fibrogenesis is crucial for...

    Authors: Ariza Julia Paulina, Y. Vitriyanna Mutiara, Lalu Muhammad Irham, Darmawi Darmawi, Nurul Qiyaam, Firdayani Firdayani, Dian Ayu Eka Pitaloka, Arfianti Arfianti and Wirawan Adikusuma
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:58
    Content type: Research Published on:

  26. Obesity, a multifaceted endocrine issue, is adversely affecting all age groups and is posing a significant public health challenge. The genetic polymorphisms of the melanocortin 4 receptor (MC4R) and leptin (LEP)...

    Authors: Tanmayi Sharma and Badaruddoza Badaruddoza
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:57
    Content type: Research Published on:

  27. Melanomas are highly aggressive in nature known for metastasis and death. Melanocytes that gave rise to melanomas are neural crest progenitor cells. Our research was primarily concerned with uveal melanoma (UM...

    Authors: Perumal Jayaraj, Tanisha Bhimwal, Khushneet Kaur, Kritika Gupta, Shreya Taluja and Anjali Priyadarshani
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:56
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2024 25:82

  28. This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort of autism spectrum disorder (ASD) whole-genome sequencing samples. We aim...

    Authors: Sandra Paulina Smieszek
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:55
    Content type: Research Published on:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:
Submit manuscript

Official journal of

Egyptian Knowledge Bank (EKB) Journals

New Content Item (1)

Visit our collection of Egyptian journals.

Follow

Annual Journal Metrics

  • 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)