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Egyptian Journal of Medical Human Genetics
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Articles

Page 4 of 11

  1. Hepcidin is the key regulator of systemic iron homeostasis and is downregulated by matriptase 2 (MT2), a protease encoded by TMPRSS6 gene. In the presence of low iron levels, MT2 cleaves membrane-bound hemojuveli...

    Authors: Halinne Lokuge Thilakshi Chamanika Abeywickrama, Miruna Sudharshani Kalaimani Rabindrakumar, Lakindu Samaranayake Pathira Kankanamge, Tharanga Thoradeniya and Gayani Harendra Galhena
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:164
    Content type: Research Published on:

  2. Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosin...

    Authors: Afolake Arowolo, Cenza Rhoda, Mzwandile Mbele, Oluwafemi G. Oluwole and Nonhlanhla Khumalo
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:163
    Content type: Research Published on:

  3. The present study was aimed to study the frequencies of HLA-DRB1/-DQB1 alleles and haplotypes of three endogamous groups of Tamil Nadu state, South India. PCR-SSP typing of HLA-DRB1 and -DQB1 alleles were perf...

    Authors: Kamaraj Raju, Balakrishnan Karuppiah and Rathika Chinniah
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:162
    Content type: Research Published on:

  4. Cardiovascular disease is now well established as an interaction between genetic and environmental components. Newly identified single nucleotide polymorphisms of angiopoietin-like 3 (ANGPTL3) influence lipid ...

    Authors: Forough Poursalehi, Malihe Aghasizadeh, Somaye Ghorbanzadeh, Farzaneh heydari, Tooba Kazemi, Farshad Sharifi, Mitra Moodi, Hossen Fakrzadeh and Ebrahim Miri-Moghaddam
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:161
    Content type: Research Published on:

  6. Breast cancer is one of the most common cancers in women, and many people get it every year. The cancer stem cells are maybe crucial role to exacerbates and relapse the breast cancer. Therefore, finding biomar...

    Authors: Armaghan Shirinsokhan, Zahra Azarmehr, Arsalan Jalili, Amin Ebrahimi Sadrabadi, Arman Saadati Partan, Sara Tutunchi and Ahmad Bereimipour
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:159
    Content type: Research Published on:

  7. DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also hete...

    Authors: Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle and Thomas Liehr
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:158
    Content type: Research Published on:

  8. Chronic periodontitis (CP) is a prevalent infectious disease caused by an interplay between pathogens and immune responses. Gene polymorphisms are among the factors that affect susceptibility to CP. This study...

    Authors: Leila Saremi, Marziyeh Shafizadeh, Mohammad Ebrahim Ghaffari, Ehsan Aliniagerdroudbari, Reza Amid and Mahdi Kadkhodazadeh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:157
    Content type: Research Published on:

  9. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. It results from the loss of SMN1 gene, but retention of its paral...

    Authors: Heba A. Hassan, Nagia A. Fahmy, Nagham M. El-Bagoury, Noura R. Eissa, Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki and Mona L. Essawi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:156
    Content type: Research Published on:

  10. Behçet's disease (BD) is a chronic, multi-systemic, recurrent condition that affects the vascular, ocular, mucocutaneous, and central nervous systems. The diagnosis of this disease depends on its clinical feat...

    Authors: Doaa N. Saleh, Abeer Ramadan, Rania Hassan Mohammed, Alshaimaa Rezk L. R. Alnaggar and Eman M. Saleh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:155
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2022 23:160

  11. Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity with increased risk of skin tumors. XP is ...

    Authors: Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch and Fatima Zahra Mernisi
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:154
    Content type: Research Published on:

  12. The CYP2D6 gene encodes a crucial enzyme involved in the metabolic pathways of many commonly used drugs. It is a highly polymorphic gene inducing an interethnic and interindividual variability in disease suscepti...

    Authors: Soumaya El Akil, Ezohra Elouilamine, Nassima Ighid and El Hassan Izaabel
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:153
    Content type: Research Published on:

  13. The genetic approach to Marfan syndrome (MFS) has evolved over the last few decades, as has our understanding of the variants’ potential structural and functional consequences. It has been proposed that next-g...

    Authors: Maria Oro, Marina Tarsitano, Maria Rivieccio, Carmelo Piscopo, Maria Teresa Petti, Nenad Bukvic, Matteo Della Monica and Massimiliano Chetta
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:152
    Content type: Case Report Published on:

  14. Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cyto...

    Authors: Kumari Pritti, Vineet Mishra, Hetvi Patel, Kushani Patel, Rohina Aggarwal and Sumesh Choudhary
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:151
    Content type: Research Published on:

  15. Steroid-resistant nephrotic syndrome (SRNS) is characterized by unresponsiveness of nephrotic range proteinuria to standard steroid therapy, and is the main cause of childhood renal failure. The identification...

    Authors: Mohammed Abdou, Abeer Ramadan, Basma E. El-Agamy, Mohamed S. EL-Farsy and Eman M. Saleh
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:150
    Content type: Research Published on:

  16. Micro-RNAs (miRNAs) have been reported as an emerging biomarker in many cancer types. They are used as diagnostic and prognostic biomarkers and could be considered therapeutic targets in treating the same.

    Authors: M. Kavitha, D. Jayachandran, S. Y. Aishwarya, P. Md. Younus, A. Venugopal, H. W. Suresh Babu, E. Ajay, M. Sanjana, N. Arul and V. Balachandar
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:149
    Content type: Review Published on:

  17. As toll-like receptor 4 (TLR4) plays important roles in cellular immunity and TLR4 polymorphisms have been shown to be associated with susceptibility to a range of diseases, the present study aimed to investigate...

    Authors: Sara H. Mahdy, Nour M. Abd Elkader, Nevine A. Kassim and Mostafa M. ElHady
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:148
    Content type: Research Published on:

  18. Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopa...

    Authors: Farah Nur Elina Mohd Atan, Wan Asmuni Wan Mohd Saman, Yuhaniza Shafinie Kamsani, Zalizah Khalid and Amirah Abdul Rahman
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:147
    Content type: Review Published on:

  19. Worldwide, COVID-19’s death rate is about 2%, considering the incidence and mortality. However, the information on its complications in other organs, specifically the liver and its disorders, is limited in mil...

    Authors: Babak Sokouti
    Citation: Egyptian Journal of Medical Human Genetics 2022 23:146
    Content type: Research Published on:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:
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  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    0.517 - SNIP (Source Normalized Impact per Paper)
    0.321 - SJR (SCImago Journal Rank)

    2023 Speed
    19 days submission to first editorial decision for all manuscripts (Median)
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  • ISSN: 2090-2441 (electronic)