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Egyptian Journal of Medical Human Genetics
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  1. Coronavirus disease 2019 (COVID-19) is an ongoing pandemic which has emerged as a new challenge for the medical sciences. Severity of COVID-19 is mostly determined with overexpressed proinflammatory cytokines ...

    Authors: Saliha Rizvi, S. Mohd.Shiraz Rizvi, Syed Tasleem Raza, Mohd. Abbas, Kaynat Fatima, Zeashan H. Zaidi and Farzana Mahdi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:145
    Content type: Research Published on:

  2. This study was conducted to accomplish a better insight into the impact of single nucleotide polymorphisms (SNPs) of nicotinic acetylcholine receptors (nAChR) at the risk of Alzheimer’s disease (AD) and their ...

    Authors: Solmaz Mohammadi, Javad Mahmoudi, Fereshteh Farajdokht, Milad Asadi, Parya Pirsarabi, Seyedeh Farrokh Kazeminiaei, Sepideh Parvizpour and Saeed Sadigh-Eteghad
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:144
    Content type: Research Published on:

  3. Circulating tumor cells represent an opportunity for the assessment of early recurrent disease or for real-time tracing of cancer. Glucose Regulated Protein 78 (GRP78) is known in the literature as a stress facto...

    Authors: Busra Aynekin, Hilal Akalin, I. Ipek Muderris, Gokhan Acmaz, Hulya Akgun, Izem Olcay Şahin, Nuriye Coşkun Gokce, Zahraa Alzaidi, Gözde Erturk Zararsiz, Yusuf Ozkul, Munis Dundar and Çetin Saatci
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:143
    Content type: Research Published on:

  4. Sepsis reaction is a response to an infection composed of genetic elements. This research aims to better understand how sepsis affects the molecular pathways in whole blood samples.

    Authors: Abdallah Ahmed Elbakkoush, Anas Khaleel, Albakush Nura Ahmed Mohamed and Ahmad Alathamneh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:142
    Content type: Research Published on:

  5. Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development ...

    Authors: Hugo H. Abarca-Barriga, Felix Chavesta Velásquez and Renzo Punil Luciano
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:141
    Content type: Case Report Published on:

  6. Coronavirus disease 2019 (Covid-19) is an infectious worldwide pandemic triggered by severe acute respiratory coronavirus 2 (SARS-CoV-2). This pandemic disease can lead to pro-inflammatory activation with asso...

    Authors: Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Engy Elekhnawy and Gaber El-Saber Batiha
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:140
    Content type: Review Published on:

  7. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this study was to collect all PTS gene variants detected among Iranian patients w...

    Authors: Sahand Khamooshian, Mohsen Kazeminia and Keivan Moradi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:139
    Content type: Research Published on:

  8. We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.

    Authors: Heba Saed El-Amawy and Heba Dawoud
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:138
    Content type: Case Report Published on:

  9. G-protein-coupled receptor (GPCR) kinases (GRKs) interact with ligand-activated GPCR, causing intracellular phosphorylation and interfering with the intracellular signal transduction associated with the develo...

    Authors: Adam Hermawan and Herwandhani Putri
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:137
    Content type: Research Published on:

  10. Genetic background of nasal-bronchial allergy (NBA) is well documented. House Dust Mites (HDMs) are reported to elicit NBA symptoms. Susceptibility to HDM sensitization varies considerably from person to perso...

    Authors: Debarati Dey, Priti Mondal, Saibal Moitra, Goutam Kumar Saha and Sanjoy Podder
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:136
    Content type: Research Published on:

  11. Non-communicable diseases such as cardiovascular diseases, respiratory diseases and diabetes contribute to the majority of deaths in India. Public health programmes on non-communicable diseases (NCD) preventio...

    Authors: Anjaly Joseph, Maradana Thirupathamma, Elezebeth Mathews and Manickavelu Alagu
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:135
    Content type: Review Published on:

  12. Osteoarthritis (OA) is a highly prevalent medical condition which represents a high impact on public health. In addition, the underlying etiology still has been unelucidated. Osteoarthritis is a multifactorial...

    Authors: Noha Abdelhady Abdelsadek Mostafa, Ibrahim Khalil Ibrahim, Neveen Lewis Mikhael and Emmanuel Kamal Aziz Saba
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:134
    Content type: Research Published on:

  13. Research on the role of variations in the mitochondrial genome in pathogenesis of acute lymphoblastic leukemia (ALL) has been unfolding at a rapid rate. Our laboratory has previously described higher number of...

    Authors: Ayushi Jain, Amit Katiyar, Ritika Singh, Sameer Bakhshi, Harpreet Singh, Jayanth Kumar Palanichamy and Archna Singh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:133
    Content type: Research Published on:

  14. Rheumatoid arthritis (RA) is an autoimmune disease in which the immune system attacks the tissues of the joints by mistake. Different factors—either genetic or environmental—affect the development of the RA di...

    Authors: Alaa M. Ibrahim, Nada M. Hassan, Mohamed N. Saad, Mai S. Mabrouk and Olfat G. Shaker
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:132
    Content type: Research Published on:

  15. The challenge to improve human life span has progressed with the advent of health care services and technologies. This improvement poses a new challenge of an associated wave of diseases and pathologies that h...

    Authors: J. P. Shirley Niveta, M. Anup Kumar and Venkatachalam Deepa Parvathi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:131
    Content type: Review Published on:

  16. This study aimed to investigate the effects of the miR-221 inhibition on the human B-chronic lymphocytic leukemia (B-CLL) cell viability and the p27 gene expression, to introduce a new treatment approach for t...

    Authors: Korosh Ashrafi Dehkordi, Majid Asadi-Samani, Ali Shojaeian and Mohammad-Reza Mahmoudian-Sani
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:130
    Content type: Research Published on:

  17. The complexity of infection in malaria-endemic areas is exacerbated by the presence of genetically diverse Plasmodium falciparum strains. There is a risk that more virulent or drug-resistant versions of the disea...

    Authors: Augusta Onyebuchi Opute, Joseph Adebowale Akinkunmi, Abdulsalam Olalekan Funsho, Adebobola Kehinde Obaniyi and Abass Toba Anifowoshe
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:129
    Content type: Review Published on:

  18. One of the aspects that helps to understand the genetic structure of a population throughout its biological history is the description of its matrimonial practices. Thus, the objective of this study is to expl...

    Authors: Khadija Cheffi, Noura Dahbi, Abderrazak El Khair, Hamid Stambouli, Aziz Elbouri, Jalal Talbi, Abderraouf Hilali and Hicham El Ossmani
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:128
    Content type: Research Published on:

  19. Pro-inflammatory/anti-inflammatory cytokine imbalance in cerebrospinal fluid or plasma of schizophrenia (SCZ) and bipolar disorder (BD) patients has been documented over the last decade. We aim to examine the ...

    Authors: Sacide Pehlivan, Yasemin Oyaci, Fatima Ceren Tuncel and Hasan Mervan Aytac
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:127
    Content type: Research Published on:

  20. Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and malignant tumors like retinal angioma, cerebellar hemangioblas...

    Authors: Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury…
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:126
    Content type: Research Published on:

  21. Coronavirus disease 2019 (COVID-19) is a devastating pandemic-causing disease with a variable severity among populations. Genetic studies have pinpointed angiotensin-converting enzyme 2 (ACE2), a key enzyme fo...

    Authors: Shaimaa A. Elbadri, Nermeen M. A. Abdallah, Mona El-Shokry, Amr Gaber and Mahmoud Kh. Elsayed
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:125
    Content type: Research Published on:

  22. July 20th, 2022, marks the 200th anniversary of the “Father of Genetics,” Gregor Mendel’s birth. His experiments with pea plants established the fundamental principles of genetic inheritance.

    Authors: Sreejon Sundar Das
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:124
    Content type: Review Published on:

  23. Ovarian cancer is the 6th leading cause of mortality in women, killing more women than any other reproductive system cancer. We studied the expression of serum micro-ribonucleic acid-21 (miRNA-21) in ovarian canc...

    Authors: Aliaa Talaat, Mohamed A. Helmy and Sara F. Saadawy
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:123
    Content type: Research Published on:

  24. Tamoxifen, a selective estrogen receptor modulator, is indicated for breast cancer developed in response to estrogen.

    Authors: Amira Boucenna, Khadidja Boudaoud, Ahmed Hireche, Mohamed Larbi Rezgoune, Noureddine Abadi, Taha Filali and Dalila Satta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:122
    Content type: Research Published on:

  25. Red cell distribution width (RDW) measures the extent of variation in red blood cell (RBC) volume in terms of coefficient of variation. It reflects the degree of variation in RBC’s sizes and shapes, characteri...

    Authors: Benard Mutua, George Sowayi and Patrick Okoth
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:121
    Content type: Research Published on:

  26. SALL4 and HIWI are involved in the maintenance of self-renewal capacity of stem cells. Several scrutinizes have demonstrated that SALL4 and HIWI play a key role in cancer development. However, the correlation ...

    Authors: Mohammad Mahdi Forghanifard and Somayeh Salehi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:120
    Content type: Research Published on:

  27. The processes of drug development and validation are too expensive to be subjected to experimental trial and errors. Hence, the use of the insilico approach becomes imperative. To this effect, the drug-likenes...

    Authors: Zakari Ya’u Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa, Stephen Eyije Abechi and Sulaiman Isyaku
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:119
    Content type: Research Published on:

  28. Acute myocardial infarction (AMI) is a leading cause of death and morbidity around the world. Although the association between thrombophilia and AMI is well-established, controversial data are present on the a...

    Authors: Amin Golestani, Atefeh Rahimi, Nastaran Moridi, Gholamreza Anani-Sarab, Fatemeh Salmani, Kazem Dastjerdi, Nahid Azdaki and Seyed Mehdi Sajjadi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:118
    Content type: Research Published on:

  29. The association between cocaine- and amphetamine-regulated transcript prepropeptide gene (CARTPT) and obesity-related outcomes has shown in the epidemiological studies. Nevertheless, there is lack of data rega...

    Authors: Mahdieh Khodarahmi, Amir Sobhrakhshan Khah, Mahdieh Abbasalizad Farhangi, Goli Siri and Houman Kahroba
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:117
    Content type: Research Published on:

  30. The Internet of things (IoT) is the network of different objects or “things” containing sensors, software, and other technologies used to exchange data between devices and systems over the cloud. Such systems ...

    Authors: Mona M. Elamir, May S. Mabrouk and Samir Y. marzouk
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:116
    Content type: Research Published on:

  32. Minimal residual disease (MRD), which is characterized as leukemic cells at a level below morphologic detection, has been connected to the risk of relapse in acute myeloid leukemia. In 80–90% of acute myeloid ...

    Authors: Hanaa Mahmoud Donia, Nada Mahmoud Elsweify, Nahla Mohamed Farahat and Eman Attia Nadwan
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:109
    Content type: Research Published on:

  33. The aim of this study is to determine the effect of ACE gene polymorphism on the parameters studied (push-up & sit-up) in a long-term study, which has been carried out for many years and to find out whether th...

    Authors: Damla Selin Yıldırım, Murat Erdoğan, Metin Dalip, Celal Bulğay and Mesut Cerit
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:114
    Content type: Research Published on:

  34. Interleukin (IL)-10 is one of the key interleukins in the immune system. It plays an anti-inflammatory role in body by inhibition of the synthesis of pro-inflammatory cytokines and reducing the expression of m...

    Authors: Mohammad Asgharzadeh, Zahra Taghinejad, Vahid Asgharzadeh, Bahareh Mehramouz, Jalil Rashedi, Behroz Mahdavipoor, Mahya Pourostadi, Ali Vegari, Ali Safarzad Vishkaei, Sepehr Taghizadeh and Hossein Samadi Kafil
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:113
    Content type: Research Published on:

  36. Diagnosis of tuberculosis (TB) in the era of technological sophistication requires accuracy and speed to provide as much information as possible so that TB treatment can be carried out quickly and precisely. N...

    Authors: Andi Tenriola, Najdah Hidayah, Subair, Muhammad Nasrum Massi, Handayani Halik, Tri Damayanti, Jafriati and Andi Tenri Ola Rivai
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:111
    Content type: Research Published on:

  37. A case–control study (80 patients with chronic hepatitis B virus [HBV] infection and 96 controls) was performed to evaluate the association of an IL12A gene variant (rs582537 A/C/G) with HBV infection. Allele G s...

    Authors: Rana T. Mohsen, Raghad H. Al-Azzawi and Ali H. Ad’hiah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:110
    Content type: Correspondence Published on:

  38. Several studies have reported that fat mass and obesity-associated gene (FTO), especially the rs9939609 polymorphism, are associated with obesity and high leptin levels. The free leptin index (FLI) is known to be...

    Authors: Siska Mayasari Lubis, Miswar Fattah and Jose R. L. Batubara
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:108
    Content type: Research Published on:

  39. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:
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  • ISSN: 2090-2441 (electronic)