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

Articles

Page 1 of 12

  1. Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal recessive, inborn error of immunity. It is characterized by progressive immune abnormalities ranging from severe combined immunodeficiency ...

    Authors: Engy A. Chohayeb, Sohilla Lotfy, Rabab E. El Hawary, Safa S. Meshaal, Iman A. Mansour, Nermeen M. Galal and Aisha M. Elmarsafy
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:106
    Content type: Research Published on:

  2. Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by social communication challenges and restricted, repetitive behaviors. While genetic and environmental factors are known to...

    Authors: Mudathir A. Adewole, Ishiaq O. Omotosho, Ayodeji O. Olanrewaju and Yetunde C. Adeniyi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:105
    Content type: Research Published on:

  3. Parkinson’s disease is the second most common age-related neurodegenerative disease after Alzheimer’s. Pathogenic factors in Parkinson’s include inflammation and oxidative stress, which lead to dopaminergic ce...

    Authors: Mehrdokht Mazdeh, Mohsen Khosravi Farsani, Alireza Komaki and Mohammad Mehadi Eftkharin
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:104
    Content type: Research Published on:

  4. Macular corneal dystrophy (MCD) is an inherited, autosomal recessive disorder of defective keratan sulfate (KS) metabolism. It is caused by the mutations in carbohydrate sulfotransferase 6 gene (CHST6) which i...

    Authors: Durga Murugan, Senthil Kumar Babu, Ezhil Vendhan Kalaimamani and Kamaraj Raju
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:103
    Content type: Case Report Published on:

  5. Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150...

    Authors: Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian and Mohammad Amin Tabatabaiefar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:102
    Content type: Research Published on:

  6. Presence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast cancer (BC), where germline BRCA1 (gBRCA 1) mutation increases the risk for BC by 59–87% and g

    Authors: Rosy Chikkala, Deepak Bhayal, Nikki Rani, Rama Modali, Kishor Bhatia and Bhawna Dubey
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:101
    Content type: Research Published on:

  7. Oral squamous cell carcinoma (OSCC) is a prevalent and aggressive oral cancer with a poor prognosis. Its polygenic risk is likely influenced by complex transcriptional disorders involving networks of co-expres...

    Authors: Liming He, Zhisheng Jiang, Yijun Gao, Yiyu Zeng, Wenhui Ge, Yi Yu and Xiaoyan Xie
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:100
    Content type: Research Published on:

  8. Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in NF1 gene. While patients with...

    Authors: Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna and Célia Azevedo Soares
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:99
    Content type: Case Report Published on:

  9. The genetic code for every organism is stored in biomolecules the deoxyribonucleic acid (DNA) and the ribonucleic acid (RNA). In higher organisms, DNA is found inside the nucleus while RNA is found outside the...

    Authors: Tina P. George, Suja Subramanian and M. H. Supriya
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:98
    Content type: Review Published on:

  10. Acute myeloid leukemia (AML) is a clonal disorder arising from the differentiation arrest of myeloid precursor and malignant proliferation of a bone marrow derived, self-renewing stem or progenitor cells insid...

    Authors: Ahmed Mahmoud Taha Khattab, Afaf Abdel Aziz Abdel Ghaffar, Dalia Ahmed El-Sewefy, Yasmin Nabil ElSakhawy, Ramy Mahmoud Salem and Heba Samy Agamy Omar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:97
    Content type: Research Published on:

  11. Gallbladder cancer (GBC) is an infrequent type of malignant neoplasm worldwide. There are a number of risk factors that increase a person's likelihood of developing GBC. Gallbladder inflammatory (GID) diseases...

    Authors: Naseem Fatima, Syed Tasleem Raza, Mohit Singh, Saliha Rizvi, Zainab Siddiqui, Ale Eba and Vijay Kumar
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:96
    Content type: Research Published on:

  12. Breast cancer (BC) is the most prevalent cancer and the leading cause of cancer-related deaths in women globally. Cysteine protease cathepsin-B has been implicated in various human malignancies and is involved...

    Authors: Basma A. Ibrahim, Eman S. Nagdy, Essam Nour Eldin, Alaa M. I. Khalil and Ahmed K. El-Taher
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:95
    Content type: Research Published on:

  14. Esophageal cancer is the eleventh most common cancer and is the seventh leading cause of mortality worldwide. Vascular endothelial growth factor (VEGF) and its receptors pathway are a key regulator of angiogen...

    Authors: Sukhpreet Kaur Walia, Vasudha Sambyal, Meena Sudan, Manjit Singh Uppal and Kamlesh Guleria
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:93
    Content type: Research Published on:

  15. Recent studies have indicated a potential association between giant cell arteritis (GCA) and diabetes mellitus, encompassing both type 1 diabetes (T1D) and type 2 diabetes (T2D). However, the exact nature of t...

    Authors: Si Chen, Xiaoli Zeng, Xu Ma, Haixia Luan, Rui Nie, Yan Wang, Hua Liao, Lili Pan and Hui Yuan
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:92
    Content type: Research Published on:

  17. Hepatocellular carcinoma (HCC) constitutes an important contributor to fatalities. Coronavirus disease 2019 (COVID-19) frequently presents with complications such as respiratory distress, systemic inflammatory...

    Authors: Jiayan Tang, Zaiyong Yang, Huotang Qin, Yu Huang, Minqing Li, Qing Deng, Ling Li and Xiaolong Li
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:90
    Content type: Research Published on:

  19. Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), typ...

    Authors: Amal El-Beshlawy, Azza A. G. Tantawy, Rabah M. Shawky, Solaf M. Elsayed, Iman M. Marzouk, S. Elgawhary, Hadeer Abdelghaffar, Usama El Safy, Khaled Eid, Khalid I. EISayh, Ahmed Megahed, Amira Adly, Eman M. Sherif, Mervat A. M. Youssef, Manar Mohamed Fathy, Nouran Yousef Salah…
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:88
    Content type: Review Published on:

  20. Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted. Due to the autosomal recessive pattern of SMA inherita...

    Authors: Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi and Ariane Sadr-Nabavi
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:87
    Content type: Research Published on:

  21. The evolutionally conserved homeobox transcription factor NKX2-5 has been at the forefront in the field of cardiac biology, providing molecular insights into the mechanisms of cardiac development and disease. ...

    Authors: Emmanuel Suluba, James Masaganya, Erasto Mbugi, Mwinyi Masala, Jackline Mathew, Henry Mruma and Liu Shuwei
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:86
    Content type: Research Published on:

  23. Suicide is a leading cause of death globally. Identifying individuals at higher suicidal risk is a key to suicide prevention. Patients with comorbid psychiatric disorders, especially major depressive disorder ...

    Authors: M. J. Nishanth, S. Sai Karthick and Shanker Jha
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:84
    Content type: Research Published on:

  24. Alopecia areata (AA) is a non-scarring hair loss condition that usually affects the scalp. The exact pathogenesis is poorly understood; however, multiple factors like genetics, environmental, psychological, an...

    Authors: Maged Mostafa, Marwa Zohdy and Maha Abdelsalam
    Citation: Egyptian Journal of Medical Human Genetics 2024 25:83
    Content type: Research Published on:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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

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)