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Egyptian Journal of Medical Human Genetics
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  1. 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:

  2. 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:

  3. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. Inflammatory bowel disease (IBD) is a group of chronic inflammatory disorders of the gastrointestinal tract. It is fundamentally related to a dysregulated immune response in the intestinal mucosa against micro...

    Authors: Sarah S. Abdul-Hussein, Ekhlass N. Ali, Nawal M. F. Alkhalidi, Neihaya H. Zaki and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:68
    Content type: Research Published on:

  16. Blood group antigens are immunogenic polymorphic molecules presented on the surface of RBCs. This study aimed to determine extended blood group profiles (ABO, Rhesus, Kell, Kidd, Duffy, MNS, Cartwright, Dombro...

    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 2020 21:51
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2021 22:8

  17. V600E-BRAF is a major protein target involved in various types of human cancers. However, the acquired resistance of the V600E-BRAF kinase to the vemurafenib and the side effects of other identified drugs initiat...

    Authors: Abdullahi Bello Umar, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:67
    Content type: Research Published on:

  18. Single nucleotide polymorphisms (SNPs) play a significant role in differences in individual’s susceptibility to diseases, and it is imperative to differentiate potentially harmful SNPs from neutral ones. Defen...

    Authors: Harini Venkata Subbiah, Polani Ramesh Babu and Usha Subbiah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:66
    Content type: Research Published on:

  19. The primary cause of cancer is gene mutation which allows the growth of abnormal and damaged cells. Nutrition is one of the key factors that either increases or decreases the risk of cancer. Mannose has been f...

    Authors: Muhammad Alif Mazlan, Muhammad Lokman Md. Isa and Moustafa Ibrahim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:64
    Content type: Research Published on:

  20. Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three n...

    Authors: Warda Kherrour, Dean Kalicanin, Luka Brčić, Leila Hambaba, Mouloud Yahia, Souheyla Benbia and Vesna Boraska Perica
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:57
    Content type: Research Published on:

  21. Folate is a naturally occurring, water-soluble B vitamin. The synthetic form of this compound is folic acid (FA), the deficiency of which is linked to neural tube disorders (NTD), which can be prevented by con...

    Authors: Zita C. Bendahan, Lina M. Escobar, Jaime E. Castellanos and María C. González-Carrera
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:62
    Content type: Review Published on:

  22. The reversible process where a homogenous fluid de-mixes into two distinctively separate liquid phases is referred to as LLPS (Liquid-liquid phase separation). The resulting liquid is made up of one dilute pha...

    Authors: Olanrewaju Ayodeji Durojaye, Divine Mensah Sedzro, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Judith Nnedimkpa Ajima and Glory Omini Ibiang
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:65
    Content type: Correspondence Published on:

  23. Walker–Warburg syndrome (WWS) is a rare, lethal, genetically, and clinically heterogeneous congenital muscular dystrophy resulting from defective glycosylation of α-dystroglycan (α-DG) and is associated with both...

    Authors: Sara H. El-Dessouky, Heba Hosny, Ahmed Ezz Elarab and Mahmoud Y. Issa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:48
    Content type: Case Report Published on:

  24. The house dust mites (HDM) constitute a major cause of allergic diseases all over the world. Genes encoding interleukins 12B and 17A which determine the course of T cell-mediated immune response are prime cand...

    Authors: Asmaa Mostafa Ammar, Elham Abbas EL. Zayyat, Amira EL. Saady Khayyal, Dina Mamdouh Hamdy, Aya EL-Gendy and Noha Abdel Fattah Elleboudy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:60
    Content type: Research Published on:

  25. The discovery of epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer, most especially non-small cell lung cancer (NSCLC), was one of the major challenges encountered by the medi...

    Authors: Muhammad Tukur Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:63
    Content type: Research Published on:

  26. Cells have evolved balanced mechanisms to protect themselves by initiating a specific response to a variety of stress. The TP53 gene, encoding P53 protein, is one of the many widely studied genes in human cells o...

    Authors: Wasim Feroz and Arwah Mohammad Ali Sheikh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:49
    Content type: Review Published on:

  27. Advanced biological techniques have helped produce more insightful findings on the genetic etiology of infertility that may lead to better management of the condition. This review provides an update on genes p...

    Authors: Tajudeen O. Yahaya, Usman U. Liman, Haliru Abdullahi, Yahuza S. Koko, Samuel S. Ribah, Zulkarnain Adamu and Suleiman Abubakar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:46
    Content type: Review Published on:

  28. Acute myeloid leukaemia (AML) is a clonal haematopoietic disease characterized by the proliferation of immature blast cells in the bone marrow and peripheral blood. Autophagy is an inherent cellular route by w...

    Authors: Manal Fawzy Ghozlan, Botheina Ahmed Thabet Farweez, Nesma Ahmed Safwat, Noha Bassiouny Hassan and Walaa Ali Elsalakawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:45
    Content type: Research Published on:

  29. Homozygosity mapping is an efficient gene mapping method applicable to recessive disorders. It can detect homozygous segments of identical haplotype structures shared at a higher frequency among ventricular se...

    Authors: Rahim Gholipoorfeshkecheh, Swati Agarwala, Kavya G, Santhosh Krishnappa, Mysore R. Savitha and Nallur B. Ramachandra
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:58
    Content type: Research Published on:

  30. Behçet’s disease (BD) is a systemic vasculitis disorder with multifactorial immunopathogenesis and associated with significant morbidity and mortality. MicroRNAs (miRNAs) are involved in the pathogenesis of in...

    Authors: Engy El Khateeb, Ayatallah Nassef, Rasha Gheith, Aya Erfan and Walaa Abdelfattah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:43
    Content type: Research Published on:

  31. Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane ...

    Authors: Asburce Olgac, Idil Yenicesu, Rıza Köksal Ozgul, Gürsel Biberoğlu and Leyla Tümer
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:42
    Content type: Case Report Published on:

  32. Osteoporosis and neurological complications are consequences of acute lymphoblastic leukemia (ALL). Collagen type I alpha 1 gene (COL1A1) polymorphism is associated with osteoporosis. This study aimed to detect t...

    Authors: Alaa A. Omran, Rania S. Nageeb, Ghada S. Nageeb, Manal A. Yosif, Yassir A. Mohammad, Alshimaa A. Ali, Mervat Atfy, Taghreed M. Azmy and Hanaa H. Elsaid
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:39
    Content type: Research Published on:

  33. The 2019-nCoV which is regarded as a novel coronavirus is a positive-sense single-stranded RNA virus. It is infectious to humans and is the cause of the ongoing coronavirus outbreak which has elicited an emerg...

    Authors: Olanrewaju Ayodeji Durojaye, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Victor Malachy Udowo, Abayomi Gaius Osotuyi, Glory Omini Ibiang and Miapeh Kous Gonlepa
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:44
    Content type: Research Published on:

  35. Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% ...

    Authors: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen and Hala T. El-Bassyouni
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:47
    Content type: Research Published on:

  36. Efficient approaches for early detection of colorectal cancer offer opportunities to gain better treatment outcomes. Blood-based molecular biomarkers as DNA integrity index (DII) might represent a promising tu...

    Authors: Ramy Salem, Rasha Ahmed, Karim Shaheen, Mohammed Abdalmegeed and Heba Hassan
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:38
    Content type: Research Published on:

  37. Angiotensin-converting enzyme 2 (ACE2) is a metallopeptidase that primarily functions as a negative regulator of renin angiotensin system (RAS) by converting angiotensin II (Ang II) to angiotensin 1-7. Contrar...

    Authors: Mayank Chaudhary
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:54
    Content type: Review Published on:

  38. Exercise benefits a variety of organ systems in mammals, and some of the best recognized effects of exercise on muscle are mediated by the transcriptional peroxisome proliferator-activated receptor gamma co-ac...

    Authors: Ehsan Badawy, Nabila A. El-laithy, Safaa M. Morsy, Magdi N. Ashour, Tahany R. Elias, Mahmoud M. Masoud and Omnia Aly
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:37
    Content type: Research Published on:

  39. Susceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic associati...

    Authors: Ali H. Ad’hiah, Risala H. Allami, Raghdan H. Mohsin, Maha H. Abdullah, Ali J. R. AL-Sa’ady and Mustafa Y. Alsudani
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:50
    Content type: Research Published on:

  40. Cardiac morphogenesis is a dynamic and complex process that involves a complex interaction of many genetic and environmental factors. Ventricular septal defects (VSDs) are the commonest congenital heart defect...

    Authors: Sumbal Sarwar, Shabana, Farah Ehsan, Amna Tahir, Mahrukh Jamil, Saleem Ullah Shahid, Shahida Hasnain, Asim Khan and Syed Najam Hyder
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:36
    Content type: Research Published on:

  41. Overproduction of reactive oxygen species as a result of hyperglycemia in diabetes mellitus leads to microvascular complications. Glutathione S-transferases play important detoxifying roles with antioxidant po...

    Authors: Mohammad Bagher Hashemi-Soteh, Amir Ahmadzadeh Amiri, Majid Reza Sheikh Rezaee, Ali Ahmadzadeh Amiri, Rohodin Ahrari, Ahmad Ahmadzadeh Amiri and Fatemeh Daneshvar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:40
    Content type: Research Published on:

  43. DNA methyltransferase 3a (DNMT3a) gene is a frequently dysregulated epigenetic modifier gene involved in the process of carcinogenesis. Also, there is a dichotomous nature of nitric oxide action with the ability ...

    Authors: Inas A. Asfour, Hany M. Hegab, Walaa A. El-Salakawy, Mohamed T. Hamza, Dina A. Mansour and Alia M. Saeed
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:34
    Content type: Research Published on:

  44. Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of...

    Authors: Ilhem Nassour-Mokhtari, Bouchra Loukidi, Abdellatif Moussouni, Reda Bettioui, Riad Benhabib, Hafida Merzouk, Amaria Aouar and Katia Allal-Taouli
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:33
    Content type: Research Published on:

  45. Vitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of se...

    Authors: Bushra Alhomsi, Ghalia Aboualchamat and Imad Alkadi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:32
    Content type: Research Published on:

  46. Protein phosphatase 2A (PP2A) functions as a tumor suppressor in many cancers. Cancerous inhibitor of protein phosphatase 2A (CIP2A) inhibits PP2A proteolytic degradation of c-Myc and enhances cell growth and tum...

    Authors: Roxan E. Shafik, Azza M. Ibrahim, Fadwa Said, Naglaa M. Hassan, Hanan E. Shafik and Hala A. Shokralla
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:31
    Content type: Research Published on:

  48. Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with dif...

    Authors: Botheina Ahmed Thabet Farweez, Nahela Ahmed Shalaby, Doaa Ahmed Gamal Eissa, Raghda El Sayed Abdel Monem Galal, Nashwa El-khazragy and Shaimaa Abdelmalik Pessar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:30
    Content type: Research Published on:

  49. Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressi...

    Authors: Muhsin Elmas, Basak Gogus, Banu Değirmenci, Mustafa Solak and J. G. Gleeson
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:29
    Content type: Case Report Published on:

  50. Chromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify hi...

    Authors: Botheina Ahmed Thabet Farweez, Nevine Ahmed Kassim, Mona Fathy Abdelfataah, Naglaa Mostafa Hassan, Doha Elsayed Ahmed Hassnien and Yasmin Nabil El-Sakhawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:28
    Content type: Research Published on:
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  • ISSN: 2090-2441 (electronic)