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Egyptian Journal of Medical Human Genetics
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  1. Human leukocyte antigen-G (HLA-G) has been proposed to influence susceptibility to inflammatory bowel disease (IBD). Therefore, the genetic association between HLA-G alleles and two clinical phenotypes of IBD ...

    Authors: Sarah S. Abdul-Hussein, Ekhlass N. Ali, Neihaya H. Zaki and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:34
    Content type: Research Published on:

  2. Acute myeloid leukemia (AML) is a heterogeneous malignant disease characterized by accumulation of different types of mutations commonly the CCAAT/enhancer binding protein-alpha (CEBPA). However, the dysregulatio...

    Authors: Naglaa M. Hassan, Fadwa Said, Roxan E. Shafik and Mona S. Abdellateif
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:30
    Content type: Research Published on:

  3. Type 2 diabetes (T2D) is a complex trait in humans. Several environmental and hereditary factors contribute to the overall pathogenesis of this disease. The association between genes, environment, and T2D was ...

    Authors: Sally M. Hafez, Hazem. El-Sayed Abou-youssef, Mona Abdel-Kader Awad, Solaf Ahmed Kamel, Rasha N. Youssef, Suzan Mahrous Elshiekh, Hala Raslan and Nehal Salah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:29
    Content type: Research Published on:

  4. Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live birth...

    Authors: Jay J. Desai, Sreelata B. Nair and S. Pappachan
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:28
    Content type: Case Report Published on:

  5. Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel a...

    Authors: Shilpa Reddy, Sailaja Maddhuri, Pratibha Nallari, Venkateshwari Ananthapur, Srinivas Kalyani, Murali Krishna, Nirmala Cherkuri and Sireesha Patibandala
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:27
    Content type: Research Published on:

  6. The potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown. The objective of the study was to test the relationship between VDR Taq 1 a...

    Authors: Walaa Alsharany Abuelhamd, Nancy Abdel Salam Gomaa, Alaa Gad and Rehab El-Wakeel
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:41
    Content type: Research Published on:

  7. Alzheimer’s disease (AD) is a progressive neurodegenerative age-related dementia that results in memory loss of elderly people. Many hypotheses have been formally articulated till now to decipher the pathogene...

    Authors: Md. Asad Ullah, Fatema Tuz Johora, Bishajit Sarkar, Yusha Araf, Nafisa Ahmed, Abida Nurun Nahar and Tanzina Akter
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:26
    Content type: Research Published on:

  8. It has been postulated that the interaction between environmental risk factors and genetic susceptibility is a possible cause for the development of acute myeloid leukemia (AML). Cytochrome P450 (CYP) detoxifi...

    Authors: Shahira Kamal Anis Botros, Nesrine El Gharbawi, Gehan Shahin, Hend Al Lithy and Mahmoud El Sherbiny
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:38
    Content type: Research Published on:

  9. The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the du...

    Authors: Natalya A. Lemskaya, Svetlana A. Romanenko, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:24
    Content type: Case Report Published on:

  10. Factors contributing to the pathogenesis and progression of cervical cancer include poor attitude to screening and health intervention, late presentation, among others. Mutations in p53 gene have been attributed ...

    Authors: Michael A. Gbadegesin, Olabode E. Omotoso, Timothy A. O. Oluwasola, Clement A. Okolo, Opeyemi Soremekun, Gabriel O. Ogun, Abideen O. Oluwasola and Oyeronke A. Odunola
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:23
    Content type: Research Published on:

  11. Diabetic retinopathy (DR) and diabetic macular edema (DME) are the leading causes of blindness in patients with diabetes. Increasing numbers of people with diabetes worldwide suggest that DR and DME will conti...

    Authors: Doaa M. Abdou, Nesrine S. Mohammed, Marwa El Fouli, Hanan A. Medaney, Sarah M. El Kateb and Safaa A. El-Gabrty
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:25
    Content type: Research Published on:

  12. Prostate cancer (PCa) has one of the highest heritability of all major cancers, where the genetic contribution has been documented, and knowledge about the molecular genetics of the disease is increasing. Howe...

    Authors: Emmanuel Acheampong, Evans Asamoah Adu, Christian Obirikorang, George Amoah, Osei Owusu Afriyie, Joseph Yorke, Enoch Odame Anto, Michael Adu Gyamfi, Emmanuella Nsenbah Acheampong, Christian Kofi Gyasi-Sarpong and Francis Agyemang Yeboah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:33
    Content type: Review Published on:

  13. Multiple sclerosis (MS) is a demyelinating disease affecting the central nervous system (CNS). Long non-coding RNAs (lncRNAs) were believed to play a role in the pathogenesis of neurological disorders includin...

    Authors: Olfat Gamil Shaker, Amr Hassan, Asmaa Mohammed Mohammed and Shereen Rashad Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:32
    Content type: Research Published on:

  14. Autism is characterized by high heritability and a complex genetic mutational landscape with restricted social behavior and impaired social communication. Whole-exome sequencing is a reliable tool to pinpoint ...

    Authors: Swati Agarwala and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:22
    Content type: Research Published on:

  15. Epilepsy is a chronic disease affecting about 2% of the population and is considered a serious neurological disease. Despite its good prognosis, 20–30% of epileptic patients were not cured of their seizures ev...

    Authors: Dina Salama Abd Elmagid, Maha Abdelsalam, Hend Magdy and Noha Tharwat
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:31
    Content type: Research Published on:

  16. Higher aldehyde dehydrogenases (ALDH) activity is one of the important signatures of breast cancer appearance and has been associated with poor prognosis. ALDH1A3 has been over-expressed in breast cancer patients...

    Authors: Shridhar V. Pattar, Manisha R. Mirjankar, Suyamindra Kulkarni, Pramod B. Gai, Namadev K. Pujar, H. G. Premakshi, Sikandar I. Mulla, R. L. Babu and Chandrappa M. Kamanavalli
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:21
    Content type: Research Published on:

  17. Idiopathic pulmonary fibrosis (IPF) represents a chronic disease with a progressive course. It is characterized by excessive lung scarring that ultimately contributes to irreversible lung function reduction. I...

    Authors: Manal M. El-Desoky, Asem A. Hewidy, Ahmed M. Fouda and Fatma Azzahraa Hisham
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:20
    Content type: Research Published on:

  18. The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder.

    Authors: Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak and Przemko Kwinta
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:19
    Content type: Case Report Published on:

  19. Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-rid...

    Authors: Ihssane EL Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Laila Bouguenouch, Imane Samri, Mohammed Iraqui Houssaïni, Karim Ouldim and Samir Atmani
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:18
    Content type: Research Published on:

  20. Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Glutathione-S-methyl transferase (GSTs) enzymes’ family is known to catalyze carcinogens detoxification. Overexpression of (GSTO) omega clas...

    Authors: Marianne E. Yassa, Hanaa H. Arnaout, Shahira K. Botros, Emad N. Obaid, Wael M. Mahmoud and Dalia S. Morgan
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:17
    Content type: Research Published on:

  21. Numerous studies have investigated the role of apolipoprotein E (APOE) polymorphisms in coronary artery disease (CAD), but some controversies exist regarding the outcomes as the results were not consistent and re...

    Authors: Sana Ashiq and Kanwal Ashiq
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:16
    Content type: Meta-Analysis Published on:

  22. The quantification of hemoglobin A2 (Hb A2; α2δ2) is used as a valuable test to differentiate α- and ß-thal carriers in clinical laboratories. Therefore, the HBD (δ-globin) gene variants could result in reduced l...

    Authors: Keivan Moradi, Aboozar Mohammadi and Mohsen Kazeminia
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:15
    Content type: Research Published on:

  23. One possible mechanism utilized by hepatitis C virus (HCV) to escape from the host’s innate immune surveillance is modification of its pathogen-associated molecular patterns (PAMPs) by altering or hiding its R...

    Authors: Reda A. Suef, Ezz Elden M. Mohamed, Mohamed T. M. Mansour, Kilian Weigand and Mohamed M. S. Farag
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:13
    Content type: Research Published on:

  24. Several studies have identified different genes that control the final dimension and structure of the mandible. Prognathism of the mandible is thought to correlate with these genes; however, no specific gene h...

    Authors: Avi Laviana, Bergman Thahar, Ani Melani, Endah Mardiati, Lita Putri and Akhyar Dyni Zakyah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:11
    Content type: Research Published on:

  25. Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals. The aim of this study was to investigate ...

    Authors: Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair and Sultana M. H. Faradz
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:14
    Content type: Research Published on:

  26. Being one of the rapidly growing dementia type diseases in the world, Alzheimer’s disease (AD) has gained much attention from researchers in the recent decades. Many hypotheses have been developed that describ...

    Authors: Bishajit Sarkar, Sayka Alam, Tiluttoma Khan Rajib, Syed Sajidul Islam, Yusha Araf and Md. Asad Ullah
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:10
    Content type: Research Published on:

  27. Primary immune thrombocytopenia (PIT) is an acquired auto-immune disease characterized by decreased platelet count with increased bleeding tendency. The tumor necrosis factor associated induced protein-3 (TNFA...

    Authors: Marwa Abd El-hady, Dalia S. Mosallam, Shahira K. Anis, Basma S. Mansour and Marianne E. Yassa
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:12
    Content type: Research Published on:

  28. The newly emerged technology, nanotechnology, represents a promising solution for many medical and industrial problems. Random targeting, resistance, and side effects are the main disadvantages of the availabl...

    Authors: Maryam Hassan Sangour, Iftikhar M. Ali, Zeenah Weheed Atwan and Ali Abd Al Lateef A. Al Ali
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:9
    Content type: Research Published on:

  29. Obesity is a health problem defined by surplus body fat accumulation and is one of the leading causes of morbidity and mortality. Earlier studies indicated the influence of brain-derived neurotrophic factor (BDNF

    Authors: Haneieh Honarmand, Mortaza Bonyadi, Abbas Rafat, Reza Mahdavi and Fereshteh Aliasghari
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:7
    Content type: Research Published on:

  30. MicroRNAs (miRNAs) represent a novel class of single-stranded RNA molecules of 18–22 nucleotides that serve as powerful tools in the regulation of gene expression. They are important regulatory molecules in se...

    Authors: Vandana Saini, Rajni Dawar, Shilpa Suneja, Sukanya Gangopadhyay and Charanjeet Kaur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:4
    Content type: Review Published on:

  31. Melanoma cancer causes serious health problem worldwide because of its rapid invasion to other organs and lack of satisfactory chemotherapy. The pGI50 anticancer activity values of 70 compounds from the NCI (Nati...

    Authors: Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:6
    Content type: Research Published on:

  32. Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsiv...

    Authors: Ozada Khamdiyeva, Zhanerke Tileules, Gulminyam Baratzhanova, Anastassiya Perfilyeva and Leyla Djansugurova
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:5
    Content type: Research Published on:

  33. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Che Ghazali Norul Hajar, Zulkafli Zefarina, Nor Suhaila Md. Riffin, Tuan Hulwani Tuan Mohammad, Mohd Nazri Hassan, Prathapan Poonachi, Sabreena Safuan, Gehad ElGhazali, Geoffrey Keith Chambers and Hisham Atan Edinur
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:8
    Content type: Correction Published on:

    The original article was published in Egyptian Journal of Medical Human Genetics 2020 21:51

  34. Biomarkers that enhance overall diagnosis and prognosis of systemic lupus erythematosus (SLE) have a growing need to be recognized. The use of long non-coding ribonucleic acids (lncRNAs) as biomarkers in this ...

    Authors: Manal M. El-Desoky, Rasha S. Shemies, Amany S. El-Bahnasawy, Nora Mostafa and Mona Elhelaly
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:3
    Content type: Research Published on:

  35. Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinic...

    Authors: Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki and Ekram Maher Fateen
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:2
    Content type: Research Published on:

  36. There are preliminary studies about the association between COVID-19 and ABO phenotypes and the results are controversial. There are only two studies which investigated the association of Rh blood groups in ad...

    Authors: Khyber Saify, Mohammad Sarwar Alborz and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2021 22:1
    Content type: Research Published on:

  37. Numerous research studies have identified specific human gene variants that affect enhanced susceptibility to viral infections. More recently is the current pandemic where the SARS-CoV-2 infection has shown a ...

    Authors: Babayemi Olawale Oladejo, Covenant Femi Adeboboye and Tinuola Tokunbo Adebolu
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:77
    Content type: Review Published on:

  38. Epilepsy is one of the most widely recognized neurological disorders; unfortunately, twenty to thirty percent of patients do not get cured from epilepsy, despite many trials of antiepileptic drug (AED) therapy...

    Authors: Maha Abdelsalam, Dina Salama Abd Elmagid, Hend Magdy, Amr Mohamed El-Sabbagh and Maged Mostafa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:61
    Content type: Research Published on:

  39. A case-control study was performed to examine age, gender, and ABO blood groups in 1014 Iraqi hospitalized cases with Coronavirus disease 2019 (COVID-19) and 901 blood donors (control group). The infection was...

    Authors: Ali H. Ad’hiah, Maha H. Abdullah, Mustafa Y. Alsudani, Rasool M. S. Shnawa, Ali J. R. Al-Sa’ady, Risala H. Allami, Khawla I. Misha’al, Iftikhar A. Jassim and Estabraq A. Taqi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:76
    Content type: Research Published on:

  40. Upon re-examination of our human history, evolutionary perspectives, and genetics, a prevailing iron deficiency phenotype appears to have evolved to protect the human race from extinction.

    Authors: Rahma Menshawey, Esraa Menshawey, Ayman H. K. Alserr and Antoine Fakhry Abdelmassih
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:75
    Content type: Review Published on:

  41. Autism is a neurodevelopmental condition with genetic heterogeneity. It is characterized by difficulties in reciprocal social interactions with strong repetitive behaviors and stereotyped interests. Copy numbe...

    Authors: Swati Agarwala, Avinash M. Veerappa and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:55
    Content type: Research Published on:

  42. Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without cong...

    Authors: Keechilat Pavithran, Divya Pachat and Dehannathparambil Kottarathil Vijaykumar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:74
    Content type: Case Report Published on:

  43. Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocu...

    Authors: Marwa Abd Elmaksoud, Aya Attya Abeesh, Catarina Pereira and Marwa El-Saeed El-Deeb
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:59
    Content type: Case Report Published on:

  44. The purpose of this study was to characterize subtype-specific patterns of mRNA and miRNA expression of gliomas using The Cancer Genome Atlas (TCGA) data to search for genetic determinants that predict prognos...

    Authors: Dmitry Y. Gvaldin, Anton A. Pushkin, Nataliya N. Timoshkina, Eduard E. Rostorguev, Arbi M. Nalgiev and Oleg I. Kit
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:73
    Content type: Research Published on:

  45. The novel coronavirus disease (COVID-19) has claimed lots of lives, posing a dire threat to global health. It was predicted that the coronavirus outbreak in the African population would be very lethal and resu...

    Authors: Olabode E. Omotoso
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:72
    Content type: Research Published on:

  46. TMPRSS2: ETS gene fusion occurs recurrently in a high proportion of prostate cancer (PCa) patients in Western countries. However, for Chinese PCa patients, no solid conclusion could be drawn from the present stud...

    Authors: Changqing Xu, Jindan Luo, Mengmeng Wang, Yin Wang, Zhaojing Chen, Yifei Cao, Yu Hong, Xianrong Xu and Jun Yang
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:53
    Content type: Research Published on:

  47. The DNA non-homologous end-joining repair gene XRCC6 (Ku70) plays an essential role in the DNA double-strand break (DSB) repairs. Defects in the DSB repair pathway results in genomic instability. Varicocele is ch...

    Authors: Mohammad Reza Namvaran, Zahra Beyzaei, Mohammad Javad Mokhtari and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:71
    Content type: Research Published on:

  48. Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4). Through ...

    Authors: Sawsan AlBaazi and Hula Shareef
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:70
    Content type: Case Report Published on:

  49. Phenylketonuria (PKU), inborn error of metabolism, results from phenylalanine hydroxylase deficiency. PKU leads to neurological manifestations, intellectual disability, and mental disorders. Treatment depends ...

    Authors: Amr S. Gouda and Walaa S. Nazim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:56
    Content type: Research Published on:

  50. It has been reported that Moringa oleifera (MO) has different medicinal properties. The aim of this study was to evaluate the hepatoprotective role of Moringa oleifera extract on acetaminophen-induced liver fibro...

    Authors: Omnia Aly, Dalia M. Abouelfadl, Olfat G. Shaker, Gehan A. Hegazy, Ahmed M. Fayez and Hanan Hassan Zaki
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:69
    Content type: Research Published on:
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  • ISSN: 2090-2441 (electronic)