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Egyptian Journal of Medical Human Genetics
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Articles

Page 10 of 11

  1. Lung cancer tumorigenesis is mainly due to accumulation of genetic and epigenetic events in the respiratory epithelium. Epigenetic alteration is more frequent than somatic mutation in lung cancer. CpG island m...

    Authors: Mohamed Mostafa Mohamed Ahmed Rizk, Suzan Mohamed Farouk Helal, Ahmed Youssef Shaaban Gad, Doreen Nazeih Assaad Younan and Salma Abd El Maguid Mohamed Ramadan Moemen
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:27
    Content type: Research Published on:

  3. Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relativ...

    Authors: Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev and Lyudmila Angelova
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:25
    Content type: Case Report Published on:

  4. Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and ...

    Authors: Mohamed Almalky, Safaa H. A. Saleh, Eman Gamal Baz and Ahmed Elsadek Fakhr
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:24
    Content type: Case Report Published on:

  5. The lack of early diagnostic tools and the development of chemoresistance have made ovarian cancer (OC) one of the deadliest gynaecological cancers. The tumour microenvironment is characterised by the extracel...

    Authors: Nisha Chandran, Mahalaxmi Iyer, Zothan Siama, Balachandar Vellingiri and Arul Narayanasamy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:23
    Content type: Review Published on:

  6. Diabetic nephropathy (DN) is considered as one of the most serious complications resulting from diabetes mellitus and end-stage of renal failure globally. Up to 40% of diabetic patients will develop DN. The in...

    Authors: Amal Al-Shahat Ibrahim, Manal Mohammad Morsy, Safwat E. Abouhashem, Omnia Aly, Norhan A. Sabbah and Nermin Raafat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:22
    Content type: Research Published on:

  7. The adipokine chemerin retinoic acid receptor responder protein 2 (RARRES2) has been associated with insulin resistance, type II diabetes mellitus (T2DM), obesity, and metabolic syndrome (MetS). The impact of RAR...

    Authors: Marwa A. Dahpy, Marwa K. Khairallah, Nashwa Mostafa A. Azoz and Ghada M. Ezzat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:21
    Content type: Research Published on:

  8. Studies have shown a direct association between angiotensin-converting enzyme (ACE) and diabetic neuropathies. As such, ACE gene polymorphisms could be a risk factor for cardiac autonomic neuropathy (CAN) in pati...

    Authors: Muhanad M. Dhumad, Farqad B. Hamdan and Qasim S. Al-Mayah
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:20
    Content type: Research Published on:

  9. The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in var...

    Authors: Farnoush Farokhian, Zahra Beyzaei, Mani Ramzi and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:19
    Content type: Research Published on:

  10. Numerous association studies have indicated that genetic alterations in genes involved in DNA repair processes are associated with the risk of age-related macular degeneration (ARMD). There is no published stu...

    Authors: Sharareh Kalteh and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:18
    Content type: Research Published on:

  11. Identifying disease-causing genetic variants in a particular population improves the molecular diagnosis of genetic disorders. National genome databases provide valuable information on this matter. This study ...

    Authors: Shirin Shahbazi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:17
    Content type: Research Published on:

  12. Osteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated ...

    Authors: Upendra Yadav, Pradeep Kumar and Vandana Rai
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:15
    Content type: Meta-Analysis Published on:

  13. Strong evidence supports the involvement of inflammation processes in the development and progression of Parkinson’s disease (PD), where increasingly correlations have been identified between genetic variation...

    Authors: Zulvikar Syambani Ulhaq and Cristian Peinado Garcia
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:14
    Content type: Meta-Analysis Published on:

  14. Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused ...

    Authors: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu and Saadet Arsan
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:16
    Content type: Case Report Published on:

  15. Many studies have been conducted on the genetic and epigenetic etiology of gestational diabetes mellitus (GDM) in the last two decades because of the disease’s increasing prevalence and role in global diabetes...

    Authors: Tajudeen O. Yahaya, Titilola Salisu, Yusuf B. Abdulrahman and Abdulrazak K. Umar
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:13
    Content type: Review Published on:

  16. The main mechanism of acute coronary syndrome (ACS) is the rupture of atherosclerotic plaques. Matrix metalloproteinases (MMPs) play an important role in the rupture of the vulnerable plaques. MMP secretion is...

    Authors: Wafaa A. Emam, Nader M. M. Ali, Aliaa T. A. Kamel, Mohamed I. M. Eladawy and Nermin Raafat
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:10
    Content type: Research Published on:

  17. Neonatal sepsis is considered as a complicated syndrome, which requires urgent intervention to avoid the unfavorable outcome. Thus, biomarkers that can either distinguish sepsis early or predict sepsis outcome...

    Authors: Rabab F. Salim, Ahmed A. Sobeih and Heba M. Abd El Kareem
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:12
    Content type: Research Published on:

  18. STAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been impl...

    Authors: Inam J. Lafta, Bassam K. Kudhair and Noralhuda N. Alabid
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:9
    Content type: Research Published on:

  19. Congenital heart diseases (CHDs) are the most common congenital anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of abnormal embryogenesis of the heart. Congenital heart ...

    Authors: Emmanuel Suluba, Liu Shuwei, Qing Xia and Ally Mwanga
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:11
    Content type: Review Published on:

  21. Long non-coding RNAs (lncRNAs) homeobox (Hox) transcript antisense intergenic RNA (HOTAIR) and HOXA transcript at the distal tip (HOTTIP) have been suggested to be implicated in liver cancer tumorigenesis and ...

    Authors: Fawzy Roshdy, Mohamed M. S. Farag, Eman El-Ahwany, Ola Mahmode, Adel A. Mousa, Mohamed El Talkawy and Faiza Essawy
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:7
    Content type: Research Published on:

  22. Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homol...

    Authors: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani and Karim Ouldim
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:6
    Content type: Research Published on:

  23. Phototherapy is the main therapeutic interference for neonatal hyperbilirubinemia used to escape an exchange transfusion and to decrease the risk of bilirubin-induced encephalopathy (kernikterus). Phototherapy...

    Authors: Mohamed farouk Afifi, Abdel Hakeem Abdel Mohsen, Emad Abdel Naeem and Marwa Ibrahem Abdel razic
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:5
    Content type: Research Published on:

  24. Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Alth...

    Authors: Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury and Mona Lotfi Essawi
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:4
    Content type: Research Published on:

  26. Chronic inflammation with sustained unregulated immune stimulation in autoimmune rheumatic diseases (ARD) may be a risk factor for developing lymphoproliferative disorders (LPD). Markers of ARD activity as hig...

    Authors: Manal Y. Tayel, Aida Nazir, Ibtessam M. Abdelhamid, Myriam A. S. Helmy, Nadia E. Zaki, Nehad S. Elsharkawy and Amira I. Fayad
    Citation: Egyptian Journal of Medical Human Genetics 2020 21:2
    Content type: Research Published on:

  27. In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithi...

    Authors: Besut Daryanto, Basuki Bambang Purnomo, Atma Gunawan, Fredo Tamara, Saga Aditya Hutama, Ema Dianita Mayasari, Arum Gladys Kusumaningrum and Jonny Karunia Fajar
    Citation: Egyptian Journal of Medical Human Genetics 2019 21:1
    Content type: Meta-Analysis Published on:

  28. Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect ...

    Authors: Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André and Jacques François Silou-Massamba
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:37
    Content type: Review Published on:

  29. The fibrinogen receptor is an integrin on the platelet surface and is shaped from two types of glycoprotein (GP) subunits, GPIIb and GPIIIa. Membrane glycoprotein IIb/IIIa plays an important role in platelet f...

    Authors: Zahra Rezaei Dezaki, Raihaneh Bagheri and Batoul Pourgheysari
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:36
    Content type: Review Published on:

  30. COX-2-specific inhibitors offer improved advantages over traditional NSAIDs. Plants are known to play critical roles in the discovery and developments of new pharmaceuticals. To the best of our knowledge, noth...

    Authors: O. Adeboye Akinloye, D. Samuel Metibemu, D. Ibukun Akinloye, S. Bamidele Onigbinde, I. Abigail Olaosebikan, Ogunnowo Florence, Bashorun Damilola, O. Adeola Bolarinwa and Olaromilorun Olubunmi
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:34
    Content type: Research Published on:

  31. Receptor tyrosine kinases (RTKs) are signaling enzymes responsible for the transfer of Adenosine triphosphate (ATP) γ-phosphate to the tyrosine residues substrates. RTKs demonstrate essential roles in cellular...

    Authors: D. Samuel Metibemu, O. Adeboye Akinloye, A. Jamiu Akamo, D. Ajiboye Ojo, O. Tolulope Okeowo and I. Olaposi Omotuyi
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:35
    Content type: Review Published on:

  32. Micro-RNA (miRNA) is one of the non-coding RNAs that exist in human genome. miRNAs play an important role in the expression of target genes. Several studies have indicated that organization of human genome is ...

    Authors: Fariba Boroumand, Iraj Saadat and Mostafa Saadat
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:33
    Content type: Research Published on:

  33. Leptin is a versatile hormone with a variety of functions, including regulation of food intake by inhibiting hunger. Any deleterious mutation in this protein can lead to serious consequences for the body. This...

    Authors: Mohammed Baqur S. Al-Shuhaib
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:32
    Content type: Meta-Analysis Published on:

  34. Myeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow (BM). Classical MPNs are classified into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombo...

    Authors: Sohaila Eldeweny, Hosny Ibrahim, Ghada Elsayed and Mohamed Samra
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:31
    Content type: Research Published on:

  35. Alpha-fetoprotein (AFP) is currently used for serologic screening in hepatocellular carcinoma (HCC) but with low sensitivity ranging 41–65% with a high rate of false-negative and false-positive results. For th...

    Authors: Arig Aly Seif, Heba Hassan Aly, Doaa Mostafa Elzoghby, Ashraf Mohammed Elbreedy and Mohamed Lotfy
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:27
    Content type: Research Published on:

  36. Telomere is a complex DNA–protein structure located at the end of all eukaryotic chromosomes. The major role of human telomerase is to catalyze the addition of telomeric repeat sequences TTAGGG onto chromosome...

    Authors: Amany H. Abdelrahman, Maha M. Eid, Mirhane Hassan, Ola M. Eid, Rania M. A. AbdelKader, Nevin M. AlAzhary, Rasha Y. Shahin and Mohamed T. Sallam
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:30
    Content type: Research Published on:

  37. Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many...

    Authors: Shaimaa Mohamed Khalaf, Mohamed Mahrous El-Tellawy, Nafisa Hassan Refat and Amal Mohammed Abd El-Aal
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:29
    Content type: Research Published on:

  38. Enterococci are intrinsically resistant to clinically achievable concentrations of aminoglycosides. However, high-level resistance to aminoglycosides (HLAR) is primarily due to the acquisition of genes encodin...

    Authors: Manal Diab, Dalia Salem, Ahmed El-Shenawy, Amira El-Far, Aya Abdelghany, Alaa Reda Awad, Inas El Defrawy and Mohamed Shemis
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:28
    Content type: Research Published on:

  39. Plasmid-mediated quinolone resistance genes (PMQR) are mainly associated with clinical isolates of Enterobacteriaceae and complicate treatment of infections caused by these isolates worldwide. Extended-spectru...

    Authors: Samaa A. Taha, Hanan Hassan Omar and wafaa Hassan Hassan
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:26
    Content type: Research Published on:

  40. Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, dis...

    Authors: Sairish Ashraf, Mudasar Nabi, Shayaq ul Abeer Rasool, Fouzia Rashid and Shajrul Amin
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:25
    Content type: Review Published on:

  41. Breast cancer (BC) represents the most prevalent malignancy among women, and it is characterized by high mortality especially in late stages. BC tumorigenesis was linked to epigenetic alterations namely methyl...

    Authors: Ragaa Abdelkader Ramadan, Ahmed Elkarmouty and Mostafa Elnaggar
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:24
    Content type: Research Published on:

  42. Colorectal cancer (CRC) is the third most common cause of cancer-related deaths which contributes to a significant public health problem worldwide with 1.8 million new cases and almost 861,000 deaths in 2018 a...

    Authors: Neemat M. Kassem, Gamal Emera, Hebatallah A. Kassem, Nashwa Medhat, Basant Nagdy, Mustafa Tareq, Rabab Abdel Moneim, Mohammed Abdulla and Wafaa H. El Metenawy
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:20
    Content type: Research Published on:

  43. Gene-gene and gene-environment interactions play an important role in cancer susceptibility. In this work, we studied the association of XRCC1 rs25487, ERCC1 rs735482, and CHRNA3 rs1051730 variants with lung canc...

    Authors: Nada Ezzeldin, Dalia El-Lebedy and Asmaa Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:23
    Content type: Research Published on:

  44. DNA methylation is associated with the risk factors of breast cancer. However, the impact of the reproductive and non-reproductive risk factors of breast cancer on p14/ARF methylation is not well known. Therefore...

    Authors: Ghada M. Ezzat and Mahmoud H. El-Shoeiby
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:22
    Content type: Research Published on:

  45. Heat shock proteins (Hsps) are widely reported in normal cellular dynamics under stress and non-stress conditions, and parallelly, the studies regarding its role in disease condition are also progressing stead...

    Authors: Anila Venugopal, Kasthuri Sundaramoorthy and Balachandar Vellingiri
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:21
    Content type: Review Published on:

  46. Colorectal cancer is the most common gastrointestinal cancer and the third most common cancer over the world. Genetic mutations in the p53 gene are associated with tumorigenesis of most cancers. So far, no study ...

    Authors: Zahra Fatehi, Farzane Amirmahani and Manoochehr Tavassoli
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:19
    Content type: Research Published on:

  47. Adiponectin plays key roles in regulating appetite and food intake. Altered circulating adiponectin levels have been observed in human eating disorders such as anorexia nervosa, bulimia nervosa or binge eating...

    Authors: Awoyemi Abayomi Awofala, Olusegun Emmanuel Ogundele, Khalid Olajide Adekoya and Samuel Adesayo Osundina
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:17
    Content type: Research Published on:

  48. Diabetes mellitus (DM) can lead to microvascular and macrovascular damages through hyperglycemia that is the main cause of diabetic complications. Other factors such as hypertension, obesity, and hyperlipidemi...

    Authors: Fatma A. Khalaf, Hatem R. Ibrahim, Hanan M. Bedair, Maha M. Allam, Amr A. Elshormilisy, Samia T. Ali and Waseem M. Gaber
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:18
    Content type: Research Published on:

  49. Breast cancer is a disease characterized by progressive genetic abnormalities including mutations in tumor suppressor genes and oncogenes, as well as other chromosomal abnormalities. Protein inhibitor of activ...

    Authors: Azhar Mohamed Nomair, Sanaa Shawky Ahmed, Hanan Mohamed Nomeir, Hazem El Mansy and Ayman Farouk Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:15
    Content type: Research Published on:

  50. Down syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community. The well-known risk factor for chromosome 21 nondisjunction is advanced maternal age which failed ...

    Authors: Lama M. El-Attar, Noha M. Issa and Hanan Salah Eldin Mahrous
    Citation: Egyptian Journal of Medical Human Genetics 2019 20:16
    Content type: Research Published on:
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  • 2022 Citation Impact
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  • ISSN: 2090-2441 (electronic)