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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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

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

  46. 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

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