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Egyptian Journal of Medical Human Genetics
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Articles

Page 5 of 11

  1. Coronary artery disease (CAD) is the most common kind of heart problem, currently became one of the leading causes of death worldwide and is predicted to persist so for the next 20 years. The global risk facto...

    Authors: Syed Tasleem Raza, Shania Abbas, Irshad Ahmad Wani, Ale Eba and Farzana Mahdi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:107
    Content type: Research Published on:

  3. MiRNAs play critical roles in the regulation of cellular function, life span, and the aging process. They can affect longevity positively and negatively through different aging pathways.

    Authors: Sima Ataollahi Eshkoor, Nooshin Ghodsian and Mehrnoosh Akhtari-Zavare
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:105
    Content type: Review Published on:

  4. Noise, a physical factor in most work environments, has many effects on human health. Exposure to excessive noise can modify the expression of associated genes with NIHL. The aim of this study to elucidate cha...

    Authors: Maryam Mirzaei Hotkani, Mohammad Reza Monazzam Esmaeilpoor, Monireh Khadem, Amir Abbasi Garmaroudi and Kolsoum Inanloorahatloo
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:104
    Content type: Research Published on:

  5. In December 2019, a novel respiratory tract infection, from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was detected in China that rapidly spread around the world. This virus possesses spike ...

    Authors: Amir Pouremamali, Abouzar Babaei, Somayeh Shatizadeh Malekshahi, Ardeshir Abbasi and Nastaran Rafiee
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:103
    Content type: Review Published on:

  6. Urothelial cancer (UC) and prostate cancer (PCa) are the most common cancers among men with a high ratio of mortality in advanced-stages. The higher risk of these malignancies among men can be associated with ...

    Authors: Mehdi Montazer, Negin Taghehchian, Majid Mojarrad and Meysam Moghbeli
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:102
    Content type: Review Published on:

  7. The prevalence and the role of CYP2C19 gene mutations concerning recurrent Cardiovascular Events (CVEs) among patients treated with clopidogrel is still controversial especially among Arab people. Therefore, t...

    Authors: Abdullah N. Alkattan, Nashwa M. Radwan, Nagla E. Mahmoud, Amjad F. Alfaleh, Amal H. Alfaifi and Khaled I. Alabdulkareem
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:101
    Content type: Review Published on:

  8. Breast cancer ranks top among newly reported cancer cases and most of the women suffers from breast cancer. Development of target therapy using phytochemicals with minimal side effects is trending in health ca...

    Authors: N. G. Praseetha, U. K. Divya and S. Nair
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:100
    Content type: Research Published on:

  9. One of the most common cancers diagnosed worldwide is breast cancer (BC), which is the leading cause of cancer death among women. The radiogenomics method is more accurate for managing and inhibiting this dise...

    Authors: Leili Darvish, Mohammad-Taghi Bahreyni-Toossi, Nasibeh Roozbeh and Hosein Azimian
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:99
    Content type: Review Published on:

  10. Hashimoto's thyroiditis is the most widespread autoimmune illness targeting a specific organ. "Redox homeostasis" is achieved when the production of Reactive Oxygen Species and their elimination are in balance...

    Authors: Noura Mostafa Mohamed and Azza H. Abd elfatah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:98
    Content type: Research Published on:

  11. The angiotensin-converting enzyme-2 (ACE2) is recognized to be the fundamental receptor of severe acute respiratory syndrome coronavirus-2 (SARS-CoV2), responsible for the worldwide Coronavirus Disease-2019 (COVI...

    Authors: Manal S. Fawzy, Hend Ashour, Aya Allah Ashraf Shafie, Nesrine Ben Hadj Dahman, Abdelhamid M. Fares, Sarah Antar, Ahmed S. Elnoby and Fatma Mohamed Fouad
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:97
    Content type: Review Published on:

  12. Breast cancer is considered the leading cause of cancer-related death among Egyptian women (15.41%). One of the common BC risk factors is the genetic factor. One-carbon metabolism is one of the pathways reported ...

    Authors: Mona Kamal Eldeeb, Mai Maher Abd-Elaziz Shoaib, Esraa Ahmed Abd-Elmonem, Hesham Mahmoud Sayd Saeed, Amira Mohammad Embaby, Ayman Mohamed Farouk and Radwa Mohammed Rashad
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:96
    Content type: Research Published on:

  13. Morphological organization, folial pattern formation and establishment of the neural circuitry within the cerebellum are the important events taking place during the development of the cerebellum. Expression o...

    Authors: Phanindra Prasad Poudel, Chacchu Bhattarai, Arnab Ghosh and Sneha Guruprasad Kalthur
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:95
    Content type: Review Published on:

  14. The cystic fibrosis transmembrane conductance regulator (CFTR) gene has been traditionally linked to cystic fibrosis (CF) inheritance in an autosomal recessive manner. Advances in molecular biology and genetics h...

    Authors: Giuseppe Fabio Parisi, Federico Mòllica, Alessandro Giallongo, Maria Papale, Sara Manti and Salvatore Leonardi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:94
    Content type: Review Published on:

  15. Vascular endothelial growth factor (VEGF) is a signal protein, induces cell proliferation, and enhances the permeability of the endothelial cells. VEGF-A gene is highly polymorphic, with different near-gene varia...

    Authors: Thoria Ahmed Omar, Gehan Kamal El-Saeed, Seham Ahmed Khodeer, Alaa Abdelsalam Dawood, Sara Mahmoud El-Deeb, Asmaa Mohammed ELShemy and Belal Abdelmohsen Montaser
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:93
    Content type: Research Published on:

  17. Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and is one of the causes of disorder of sexual...

    Authors: Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan and Rahim Vakili
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:91
    Content type: Case Report Published on:

  18. The increasing prevalence of diabetes mellitus (DM) is one of the most challenging public health issues. The destruction of insulin-producing cells in the islets of Langerhans is the hallmark of type 1 diabete...

    Authors: Rabab Afifi Mohamed, Dalia Saber Morgan, Mahmoud Hodeib, Asmaa Radwan and Hany Fawzy Ali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:90
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2022 23:112

  19. Tuberculosis (TB) is a multifactorial disease, and increasing evidence shows that genetic variants in regulating genes of immune response confer susceptibility to active TB at the individual level. We aimed to...

    Authors: Hanaa Shafiek, Ahmed Shabana, Ayman El-Seedy and Yehia Khalil
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:89
    Content type: Research Published on:

  20. Toll-like receptors (TLRs) are a family of 10 pattern recognition receptors (TLR1–TLR10) involved in the regulation of inflammatory and immune responses besides their role in the pathogenesis of autoimmune dis...

    Authors: Noor S. Atiyah, Hula Y. Fadhil and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:88
    Content type: Research Published on:

  21. β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Kl...

    Authors: Sushmitha Billapati, G. C. Sowmya, R. S. Tapadia and Usha R. Dutta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:87
    Content type: Case Report Published on:

  22. Glutathione S-transferases (GSTs) are a class of important Phase II detoxification enzymes that catalyze the conjugation of glutathione and xenobiotic compounds (environmental carcinogens, pollutants and drugs...

    Authors: Hemlata, Jagphool Singh, Anuradha Bhardwaj, Anil Kumar, Gulab Singh, Kanu Priya and Shiv Kumar Giri
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:86
    Content type: Research Published on:

  24. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to be a significant public health challenge globally. SARS-CoV-2 is a novel virus, and the understanding of what constitutes expressed RNAseq...

    Authors: Javan Okendo and David Okanda
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:84
    Content type: Research Published on:

  25. The irrational use of carbapenems in the last years lead to the emergence of carbapenem-resistant Enterobacteriaceae (CRE). This study aimed at determining the prevalence of CRE intestinal carriage among admitted...

    Authors: Inas El-Defrawy, Doaa Gamal, Rania El-Gharbawy, Eman El-Seidi, Ehab El-Dabaa and Somaya Eissa
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:83
    Content type: Research Published on:

  26. Intellectual disability is characterized by impairments in adaptive behavior and cognitive functioning manifested during the developmental period. Since disabilities are heterogeneous, variant analysis can hel...

    Authors: Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, Seyed Mehdi Kalantar, Mohsen Taheri, Zahra Metanat, Nasrin Ghasemi and Mohammadreza Dehghani
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:82
    Content type: Case Report Published on:

  27. Schizophrenia is a psychotic disorder that impacts around 0.5% to 1.2% of the world's population. It has been well established that heredity plays an essential role in the causation of schizophrenia, with gene...

    Authors: Houssam Boulenouar, Hadjer Benhatchi, Farah Guermoudi, Ahlem Hania Oumiloud and Asma Rahoui
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:81
    Content type: Review Published on:

  28. To provide normal reference data and identify growth patterns for craniofacial dimensions of a mid-face zone in healthy preschool Egyptian children.

    Authors: Soheir S. Abou El Ella, Maha A. Tawfik, Mona Yakout Abd El Shaheed and Naglaa Fathy Barseem
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:80
    Content type: Research Published on:

  29. Polycystic ovary syndrome (PCOS) is a common endocrine–metabolic disorder due to genetic and environmental factors. Genetic variants located in intron 1 of Fat mass and obesity-associated (FTO) gene are associate...

    Authors: Zeinab Naghshband and Suttur S. Malini
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:79
    Content type: Research Published on:

  30. Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen dise...

    Authors: Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien and Anatole Laleye
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:78
    Content type: Case Report Published on:

  31. Polycystic ovary syndrome (PCOS) became one of the main reasons for infertility in women. It has an obvious effect on phenotype represented by hirsutism, increased body mass index, obesity, and acne, while bio...

    Authors: Rehab S. Ramadhan, Rebah N. Algafari and Aziz Latif Jarallah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:77
    Content type: Research Published on:

  32. A missense gain-of-function fibroblast growth factor-23 (FGF23) gene single nucleotide polymorphism (SNP) (rs7955866) has been associated with FGF23 hypersecretion, phosphaturia, and bone disease. Excess circulat...

    Authors: Yaser Aly Ammar, Dalia Aly Maharem, Amira Hussein Mohamed, Gihane Ibrahim Khalil, Riham Said Shams-Eldin and Fatma Ibrahim Dwedar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:76
    Content type: Research Published on:

  33. Advances in genetic science have led to the identification of many rare treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic spectrum of pediatric patients presenting with MDs. B...

    Authors: Dina Amin Saleh and Azza Abd El Moneim Attia
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:75
    Content type: Research Published on:

  34. Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis. ...

    Authors: Melis Akpinar Gozetici, Fadime Ersoy Dursun and Hasan Dursun
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:74
    Content type: Case Report Published on:

  35. Colour vision deficiency (CVD), also referred to as colour blindness, is the failure or decreased ability to distinguish between certain colours under normal lighting conditions. It is an X-linked genetic diso...

    Authors: Samson Taiwo Fakorede, Lydia Gift Akpan, Khalid Olajide Adekoya and Bola Oboh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:73
    Content type: Research Published on:

  37. Preeclampsia (PE) is one of the complications of pregnancy. The pathogenesis of PE has not been completely understood. The aims of the present study were to investigate the role of Keap1 (rs11085735) variants ...

    Authors: Maryam Zangeneh, Sara Heydarian, Zahra Seifi, Maryam Kohsari and Zohreh Rahimi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:37
    Content type: Research Published on:

  38. IL-37 is an anti-inflammatory cytokine that increases in several inflammatory diseases with the main inducing signal for its production being pro-inflammatory cytokines like TNF-α. We aimed to assess the corre...

    Authors: Dina Ragab, Ahmed Abbas and Ramy Salem
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:72
    Content type: Research Published on:

  39. Drugs are chemicals which can disrupt the nerve cell functions of the brain. The present study aims to investigate the addiction related gene (OPRM1) in three types of addiction—drugs, alcohol and smoking. Pathwa...

    Authors: Vanlal Hriatpuii, Hoikhe Priscilla Sema, Chenkual Vankhuma, Mahalaxmi Iyer, Mohana Devi Subramaniam, Krothapalli R. S. Sambasiva Rao, Balachandar Vellingiri and Nachimuthu Senthil Kumar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:35
    Content type: Review Published on:

  40. Improving motor coordination is an important prerequisite for the functional development of children with cerebral palsy (CP). Virtual reality (VR) may be efficient, interactive, adjustable and motivating phys...

    Authors: Naglaa Abdelhaleem, Manal S. Abd El Wahab and Shorouk Elshennawy
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:71
    Content type: Review Published on:

  41. Ischemic stroke (IS) is the most leading cause of morbidity and mortality worldwide. Micro RNA (miRNA) genetic variants have been identified as a part of IS non-modifiable risk markers. This study aims to iden...

    Authors: Wafaa M. Abdelghany, Naguib Zoheir, Samah Abd Elhamid, Sandra Ahmed and Kareeman Gomaa
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:38
    Content type: Research Published on:

  42. In order to improve cancer patients' chances of survival, scientists have prioritized finding alternatives to chemotherapy, focusing their efforts on natural sources. The current study investigates the anti-ca...

    Authors: Saba M. J. Falih, Sarah T. Al-Saray, Abdulbari A. Alfaris and Ali A. A. Al-Ali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:70
    Content type: Research Published on:

  43. Cigarette smoking is the leading preventable cause of death worldwide, and it is the most common cause of oral cancers. This study aims to provide a deeper understanding of the molecular pathways in the oral c...

    Authors: Anas Khaleel, Bayan Alkhawaja, Talal Salem Al-Qaisi, Lubna Alshalabi and Amneh H. Tarkhan
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:69
    Content type: Research Published on:

  44. DNA methylation is involved in pathogenesis of acute myeloid leukemia (AML). N6-methyladenosine (m6A) modification of mRNA, mediated by methyltransferase-like 3 (METTL3), is one of the well-identified mRNA modifi...

    Authors: Reham Mohamed Nagy, Amal Abd El Hamid Mohamed, Rasha Abd El-Rahman El-Gamal, Shereen Abdel Monem Ibrahim and Shaimaa Abdelmalik Pessar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:34
    Content type: Research Published on:

  45. Down syndrome (DS) is characterized by variable degrees of intellectual disability (ID). The coronavirus disease-2019 (COVID-19) lockdown prevented children with DS from reaching their rehabilitation facilitie...

    Authors: Nagwa A. Meguid, Neveen Hassan Nashaat, Hanaa Reyad Abdallah, Maha Hemimi, Ahmed Elnahry, Hazem Mohamed El-Hariri and Amal Elsaeid
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:68
    Content type: Research Published on:

  46. Methamphetamine abuse disorder is an important social and health problem worldwide. Diagnosis and confirmation of patients with methamphetamine abuse using serum are important in many fields. MicroRNAs (miRNAs...

    Authors: Shima Fathi, Hossein Soltanzadeh, Asghar Tanomand, Zahra Asadi and Saman Rezai Moradali
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:67
    Content type: Research Published on:

  47. Multiple myeloma (MM) is a proliferation of monoclonal plasma cells that accumulate in bone marrow, leading to bone destruction and marrow failure. Cytogenetic analysis is a challenge in MM because of the low ...

    Authors: Hadeel Yaseen Abdel-Qader, Dina Adel Fouad, Soha Ahmed Abuelela, Heba Mohamed Atif Ismail and Noha Hussein Boshnaq
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:66
    Content type: Research Published on:

  48. Genetic factors are important considerations in the etiology of preeclampsia and gestational hypertension. Several previous studies have shown an association of Vitamin D receptor (VDR) gene polymorphisms with hy...

    Authors: Dini Setiarsih, Pramudji Hastuti and Detty Siti Nurdiati
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:33
    Content type: Research Published on:

  49. Tibial muscular dystrophy (TMD), tardive, is a dominantly inherited mild degenerative disorder of anterior tibial muscles. Mutations of Titin (TTN) have been reported in patients with different phenotypes such as...

    Authors: Deepak Panwar, Kumar Gautam Singh, Shruti Mathur, Bhagwati Prasad, Anita Joshi, Vandana Lal and Atul Thatai
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:65
    Content type: Case Report Published on:

  50. Type 2 diabetes mellitus (T2DM) is chronic metabolic disorder manifested by increased blood glucose (hyperglycemia) due to pancreatic β-cell dysfunction and/or decreased sensitivity of peripheral tissue to ins...

    Authors: Hussein K. Fadheel, Ahmed N. Kaftan, Farah H. Naser, Majid K. Hussain, Abdul Hussein A. Algenabi, Hamza J. Mohammad and Thekra A. Al-Kashwan
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:64
    Content type: Research Published on:
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  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    0.517 - SNIP (Source Normalized Impact per Paper)
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  • ISSN: 2090-2441 (electronic)