Articles

Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype

Walker–Warburg syndrome (WWS) is a rare, lethal, genetically, and clinically heterogeneous congenital muscular dystrophy resulting from defective glycosylation of α-dystroglycan (α-DG) and is associated with both...

Authors: Sara H. El-Dessouky, Heba Hosny, Ahmed Ezz Elarab and Mahmoud Y. Issa

Role of interleukins 12B and 17A genetic variation in house dust mites allergy

The house dust mites (HDM) constitute a major cause of allergic diseases all over the world. Genes encoding interleukins 12B and 17A which determine the course of T cell-mediated immune response are prime cand...

Authors: Asmaa Mostafa Ammar, Elham Abbas EL. Zayyat, Amira EL. Saady Khayyal, Dina Mamdouh Hamdy, Aya EL-Gendy and Noha Abdel Fattah Elleboudy

Structure-based design of some quinazoline derivatives as epidermal growth factor receptor inhibitors

The discovery of epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer, most especially non-small cell lung cancer (NSCLC), was one of the major challenges encountered by the medi...

Authors: Muhammad Tukur Ibrahim, Adamu Uzairu, Gideon Adamu Shallangwa and Sani Uba

Exploring the multiple roles of guardian of the genome: P53

Cells have evolved balanced mechanisms to protect themselves by initiating a specific response to a variety of stress. The TP53 gene, encoding P53 protein, is one of the many widely studied genes in human cells o...

Authors: Wasim Feroz and Arwah Mohammad Ali Sheikh

Genes predisposing to syndromic and nonsyndromic infertility: a narrative review

Advanced biological techniques have helped produce more insightful findings on the genetic etiology of infertility that may lead to better management of the condition. This review provides an update on genes p...

Authors: Tajudeen O. Yahaya, Usman U. Liman, Haliru Abdullahi, Yahuza S. Koko, Samuel S. Ribah, Zulkarnain Adamu and Suleiman Abubakar

Reductive regulation of BECN1 gene in adult Egyptian patients with do novo AML

Acute myeloid leukaemia (AML) is a clonal haematopoietic disease characterized by the proliferation of immature blast cells in the bone marrow and peripheral blood. Autophagy is an inherent cellular route by w...

Authors: Manal Fawzy Ghozlan, Botheina Ahmed Thabet Farweez, Nesma Ahmed Safwat, Noha Bassiouny Hassan and Walaa Ali Elsalakawy

Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Homozygosity mapping is an efficient gene mapping method applicable to recessive disorders. It can detect homozygous segments of identical haplotype structures shared at a higher frequency among ventricular se...

Authors: Rahim Gholipoorfeshkecheh, Swati Agarwala, Kavya G, Santhosh Krishnappa, Mysore R. Savitha and Nallur B. Ramachandra

Expression of miR-146a and miR-155 in Egyptian patients with Behçet’s disease: clinical significance and relationship with disease activity

Behçet’s disease (BD) is a systemic vasculitis disorder with multifactorial immunopathogenesis and associated with significant morbidity and mortality. MicroRNAs (miRNAs) are involved in the pathogenesis of in...

Authors: Engy El Khateeb, Ayatallah Nassef, Rasha Gheith, Aya Erfan and Walaa Abdelfattah

Lysinuric protein intolerance: an overlooked diagnosis

Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane ...

Authors: Asburce Olgac, Idil Yenicesu, Rıza Köksal Ozgul, Gürsel Biberoğlu and Leyla Tümer

COL1A1 polymorphism and neurological complications in pediatric acute lymphoblastic leukemia patients and their associations with altered bone mineral density

Osteoporosis and neurological complications are consequences of acute lymphoblastic leukemia (ALL). Collagen type I alpha 1 gene (COL1A1) polymorphism is associated with osteoporosis. This study aimed to detect t...

Authors: Alaa A. Omran, Rania S. Nageeb, Ghada S. Nageeb, Manal A. Yosif, Yassir A. Mohammad, Alshimaa A. Ali, Mervat Atfy, Taghreed M. Azmy and Hanaa H. Elsaid

Potential therapeutic target identification in the novel 2019 coronavirus: insight from homology modeling and blind docking study

The 2019-nCoV which is regarded as a novel coronavirus is a positive-sense single-stranded RNA virus. It is infectious to humans and is the cause of the ongoing coronavirus outbreak which has elicited an emerg...

Authors: Olanrewaju Ayodeji Durojaye, Talifhani Mushiana, Henrietta Onyinye Uzoeto, Samuel Cosmas, Victor Malachy Udowo, Abayomi Gaius Osotuyi, Glory Omini Ibiang and Miapeh Kous Gonlepa

The morbidity and mortality of COVID-19 are correlated with the Ile105Val glutathione S-transferase P1 polymorphism

Oxidative stress is an important issue in coronavirus disease 2019 (COVID-19). Considering that glutathione S-transferase P1 (GSTP1) is involved in cellular detoxification, it may play an important role in suscep...

Authors: Mostafa Saadat

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% ...

Authors: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen and Hala T. El-Bassyouni

DNA integrity index as a potential molecular biomarker in colorectal cancer

Efficient approaches for early detection of colorectal cancer offer opportunities to gain better treatment outcomes. Blood-based molecular biomarkers as DNA integrity index (DII) might represent a promising tu...

Authors: Ramy Salem, Rasha Ahmed, Karim Shaheen, Mohammed Abdalmegeed and Heba Hassan

COVID-19 susceptibility: potential of ACE2 polymorphisms

Angiotensin-converting enzyme 2 (ACE2) is a metallopeptidase that primarily functions as a negative regulator of renin angiotensin system (RAS) by converting angiotensin II (Ang II) to angiotensin 1-7. Contrar...

Authors: Mayank Chaudhary

Role of swimming on muscle PGC-1α, FNDC5 mRNA, and assessment of serum omentin, adropin, and irisin in high carbohydrate high fat (HCHF) diet induced obesity in rats

Exercise benefits a variety of organ systems in mammals, and some of the best recognized effects of exercise on muscle are mediated by the transcriptional peroxisome proliferator-activated receptor gamma co-ac...

Authors: Ehsan Badawy, Nabila A. El-laithy, Safaa M. Morsy, Magdi N. Ashour, Tahany R. Elias, Mahmoud M. Masoud and Omnia Aly

Evaluating of the association between ABO blood groups and coronavirus disease 2019 (COVID-19) in Iraqi patients

Susceptibility to the pandemic coronavirus disease 2019 (COVID-19) has recently been associated with ABO blood groups in patients of different ethnicities. This study sought to understand the genetic associati...

Authors: Ali H. Ad’hiah, Risala H. Allami, Raghdan H. Mohsin, Maha H. Abdullah, Ali J. R. AL-Sa’ady and Mustafa Y. Alsudani

Hematological and demographic profile of Pakistani children with isolated ventricular septal defects (VSDs)

Cardiac morphogenesis is a dynamic and complex process that involves a complex interaction of many genetic and environmental factors. Ventricular septal defects (VSDs) are the commonest congenital heart defect...

Authors: Sumbal Sarwar, Shabana, Farah Ehsan, Amna Tahir, Mahrukh Jamil, Saleem Ullah Shahid, Shahida Hasnain, Asim Khan and Syed Najam Hyder

Evaluation of glutathione S-transferase polymorphism in Iranian patients with type 2 diabetic microangiopathy

Overproduction of reactive oxygen species as a result of hyperglycemia in diabetes mellitus leads to microvascular complications. Glutathione S-transferases play important detoxifying roles with antioxidant po...

Authors: Mohammad Bagher Hashemi-Soteh, Amir Ahmadzadeh Amiri, Majid Reza Sheikh Rezaee, Ali Ahmadzadeh Amiri, Rohodin Ahrari, Ahmad Ahmadzadeh Amiri and Fatemeh Daneshvar

Strategies to target long non-coding RNAs in cancer treatment: progress and challenges

Long non-coding RNAs are important regulators of gene expression and diverse biological processes. Their aberrant expression contributes to a verity of diseases including cancer development and progression, pr...

Authors: Behdokht Fathi Dizaji

Prognostic significance of DNMT3a gene expression and reactive nitrogen species in newly diagnosed Egyptian de novo adult acute myeloid leukemia patients

DNA methyltransferase 3a (DNMT3a) gene is a frequently dysregulated epigenetic modifier gene involved in the process of carcinogenesis. Also, there is a dichotomous nature of nitric oxide action with the ability ...

Authors: Inas A. Asfour, Hany M. Hegab, Walaa A. El-Salakawy, Mohamed T. Hamza, Dina A. Mansour and Alia M. Saeed

Inherited thrombophilia and recurrent pregnancy loss: a single-center case-control study in North-Western Algeria

Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of...

Authors: Ilhem Nassour-Mokhtari, Bouchra Loukidi, Abdellatif Moussouni, Reda Bettioui, Riad Benhabib, Hafida Merzouk, Amaria Aouar and Katia Allal-Taouli

Assessment of vitamin D-binding protein (DBP) gene polymorphisms and their correlation with multiple sclerosis: a case-control study in a sample of the Syrian population

Vitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of se...

Authors: Bushra Alhomsi, Ghalia Aboualchamat and Imad Alkadi

Prognostic value of CIP2A gene expression in adult Egyptian acute myeloid leukemia patients

Protein phosphatase 2A (PP2A) functions as a tumor suppressor in many cancers. Cancerous inhibitor of protein phosphatase 2A (CIP2A) inhibits PP2A proteolytic degradation of c-Myc and enhances cell growth and tum...

Authors: Roxan E. Shafik, Azza M. Ibrahim, Fadwa Said, Naglaa M. Hassan, Hanan E. Shafik and Hala A. Shokralla

An in silico epitope-based peptide vaccine design against the 2019-nCoV

Authors: Olanrewaju Ayodeji Durojaye, Talifhani Mushiana, Samuel Cosmas, Glory Omini Ibiang and Mercy Omini Ibiang

Lymphoid enhancer-binding factor 1 (LEF-1): a favorable prognostic factor in adult acute myeloid leukemia in Egyptian patients

Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with dif...

Authors: Botheina Ahmed Thabet Farweez, Nahela Ahmed Shalaby, Doaa Ahmed Gamal Eissa, Raghda El Sayed Abdel Monem Galal, Nashwa El-khazragy and Shaimaa Abdelmalik Pessar

A case of spastic paraplegia type 11 with a variation in the SPG11 gene

Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressi...

Authors: Muhsin Elmas, Basak Gogus, Banu Değirmenci, Mustafa Solak and J. G. Gleeson

Clinical impact of early minimal residual disease detection at day 15 in precursor B-childhood acute lymphoblastic leukemia: an Egyptian experience

Chromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify hi...

Authors: Botheina Ahmed Thabet Farweez, Nevine Ahmed Kassim, Mona Fathy Abdelfataah, Naglaa Mostafa Hassan, Doha Elsayed Ahmed Hassnien and Yasmin Nabil El-Sakhawy

SHOX2 gene methylation in Egyptians having lung cancer

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

Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes

Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene. SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is...

Authors: Yuri Yépez, Irene Paradisi and Sergio Arias

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

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

Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report

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

Purinergic signalling pathway: therapeutic target in ovarian cancer

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

Role of mesenchymal stem cells and their culture medium in alleviating kidney injury in rats diabetic nephropathy

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

The associations among RARRES2 rs17173608 gene polymorphism, serum chemerin, and non-traditional lipid profile in patients with metabolic syndrome

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

Angiotensin-converting enzyme insertion/deletion (I/D) gene polymorphism in Iraqi type 2 diabetic patients: association with the risk of cardiac autonomic neuropathy

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

Association between genetic polymorphism of XRCC7 (G6721T) and risk of acute lymphoblastic leukemia

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

Lack of association between three common genetic variations of XPC and susceptibility to age-related macular degeneration, a preliminary study

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

Prediction and in silico validation of MYH7 gene missense variants in the Iranian population: a bioinformatics analysis based on Iranome database

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

Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysis

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

Inflammation-related gene polymorphisms associated with Parkinson’s disease: an updated meta-analysis

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

A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

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

Update on the genetic and epigenetic etiology of gestational diabetes mellitus: a review

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

Evaluation of CD147 gene expression, lipid peroxidation, and antioxidants in cases of acute coronary syndrome in Egyptian population

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

Evaluation of the clinical value of circulating miR-101, miR-187 and miR-21 in neonatal sepsis diagnosis and prognosis

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

Characterization of the major human STAG3 variants using some proteomics and bioinformatics assays

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

Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways

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

What should be the focus of counseling in parental consanguinity: genetic disorders or underlying beliefs

Authors: Zahra Soheilirad

Long non-coding RNA HOTAIR and HOTTIP as potential biomarkers for hepatitis C virus genotype 4-induced hepatocellular carcinoma

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

Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

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