Articles

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

Role of phototherapy, BAX gene expression in hyperbilirubinemia development in full-term neonates

Phototherapy is the main therapeutic interference for neonatal hyperbilirubinemia used to escape an exchange transfusion and to decrease the risk of bilirubin-induced encephalopathy (kernikterus). Phototherapy...

Authors: Mohamed farouk Afifi, Abdel Hakeem Abdel Mohsen, Emad Abdel Naeem and Marwa Ibrahem Abdel razic

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Alth...

Authors: Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury and Mona Lotfi Essawi

Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family

Authors: Nejat Akar, Serdar Ceylaner, Yasemin Ardicoglu Akisin and Gokce Su Tastan

TNF-α -308 G>A and IL10 -1082A>G polymorphisms as potential risk factors for lymphoproliferative disorders in autoimmune rheumatic diseases

Chronic inflammation with sustained unregulated immune stimulation in autoimmune rheumatic diseases (ARD) may be a risk factor for developing lymphoproliferative disorders (LPD). Markers of ARD activity as hig...

Authors: Manal Y. Tayel, Aida Nazir, Ibtessam M. Abdelhamid, Myriam A. S. Helmy, Nadia E. Zaki, Nehad S. Elsharkawy and Amira I. Fayad

Association between calcium-sensing receptor (CaSR) R990G, CaSR A986S, and CaSR Q1011E gene polymorphisms and the risk of urolithiasis: a meta-analysis

In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithi...

Authors: Besut Daryanto, Basuki Bambang Purnomo, Atma Gunawan, Fredo Tamara, Saga Aditya Hutama, Ema Dianita Mayasari, Arum Gladys Kusumaningrum and Jonny Karunia Fajar

Omphalocele: a review of common genetic etiologies

Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect ...

Authors: Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André and Jacques François Silou-Massamba

Association between fibrinogen receptor (Glycoprotein IIb) polymorphism and the risk of venous thromboembolism: a systematic review

The fibrinogen receptor is an integrin on the platelet surface and is shaped from two types of glycoprotein (GP) subunits, GPIIb and GPIIIa. Membrane glycoprotein IIb/IIIa plays an important role in platelet f...

Authors: Zahra Rezaei Dezaki, Raihaneh Bagheri and Batoul Pourgheysari

Flavanones from Sorghum bicolor selectively inhibit COX-2: in-silico and in-vivo validation

COX-2-specific inhibitors offer improved advantages over traditional NSAIDs. Plants are known to play critical roles in the discovery and developments of new pharmaceuticals. To the best of our knowledge, noth...

Authors: O. Adeboye Akinloye, D. Samuel Metibemu, D. Ibukun Akinloye, S. Bamidele Onigbinde, I. Abigail Olaosebikan, Ogunnowo Florence, Bashorun Damilola, O. Adeola Bolarinwa and Olaromilorun Olubunmi

Exploring receptor tyrosine kinases-inhibitors in Cancer treatments

Receptor tyrosine kinases (RTKs) are signaling enzymes responsible for the transfer of Adenosine triphosphate (ATP) γ-phosphate to the tyrosine residues substrates. RTKs demonstrate essential roles in cellular...

Authors: D. Samuel Metibemu, O. Adeboye Akinloye, A. Jamiu Akamo, D. Ajiboye Ojo, O. Tolulope Okeowo and I. Olaposi Omotuyi

Non-randomness distribution of micro-RNAs on human chromosomes

Micro-RNA (miRNA) is one of the non-coding RNAs that exist in human genome. miRNAs play an important role in the expression of target genes. Several studies have indicated that organization of human genome is ...

Authors: Fariba Boroumand, Iraj Saadat and Mostafa Saadat

D76V, L161R, and C117S are the most pathogenic amino acid substitutions with several dangerous consequences on leptin structure, function, and stability

Leptin is a versatile hormone with a variety of functions, including regulation of food intake by inhibiting hunger. Any deleterious mutation in this protein can lead to serious consequences for the body. This...

Authors: Mohammed Baqur S. Al-Shuhaib

MPL W515 L/K mutations in myeloproliferative neoplasms

Myeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow (BM). Classical MPNs are classified into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombo...

Authors: Sohaila Eldeweny, Hosny Ibrahim, Ghada Elsayed and Mohamed Samra

Aberrant p16 methylation as an early diagnostic marker in blood of hepatocellular carcinoma patients

Alpha-fetoprotein (AFP) is currently used for serologic screening in hepatocellular carcinoma (HCC) but with low sensitivity ranging 41–65% with a high rate of false-negative and false-positive results. For th...

Authors: Arig Aly Seif, Heba Hassan Aly, Doaa Mostafa Elzoghby, Ashraf Mohammed Elbreedy and Mohamed Lotfy

Telomerase reverse transcriptase gene amplification in hematological malignancies

Telomere is a complex DNA–protein structure located at the end of all eukaryotic chromosomes. The major role of human telomerase is to catalyze the addition of telomeric repeat sequences TTAGGG onto chromosome...

Authors: Amany H. Abdelrahman, Maha M. Eid, Mirhane Hassan, Ola M. Eid, Rania M. A. AbdelKader, Nevin M. AlAzhary, Rasha Y. Shahin and Mohamed T. Sallam

Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital

Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many...

Authors: Shaimaa Mohamed Khalaf, Mohamed Mahrous El-Tellawy, Nafisa Hassan Refat and Amal Mohammed Abd El-Aal

Detection of high level aminoglycoside resistance genes among clinical isolates of Enterococcus species

Enterococci are intrinsically resistant to clinically achievable concentrations of aminoglycosides. However, high-level resistance to aminoglycosides (HLAR) is primarily due to the acquisition of genes encodin...

Authors: Manal Diab, Dalia Salem, Ahmed El-Shenawy, Amira El-Far, Aya Abdelghany, Alaa Reda Awad, Inas El Defrawy and Mohamed Shemis

Characterization of plasmid-mediated qnrA and qnrB genes among Enterobacteriaceae strains: quinolone resistance and ESBL production in Ismailia, Egypt

Plasmid-mediated quinolone resistance genes (PMQR) are mainly associated with clinical isolates of Enterobacteriaceae and complicate treatment of infections caused by these isolates worldwide. Extended-spectru...

Authors: Samaa A. Taha, Hanan Hassan Omar and wafaa Hassan Hassan

Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review

Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, dis...

Authors: Sairish Ashraf, Mudasar Nabi, Shayaq ul Abeer Rasool, Fouzia Rashid and Shajrul Amin

Aberrant methylation of yes-associated protein (YAP1) as a potential biomarker in breast cancer

Breast cancer (BC) represents the most prevalent malignancy among women, and it is characterized by high mortality especially in late stages. BC tumorigenesis was linked to epigenetic alterations namely methyl...

Authors: Ragaa Abdelkader Ramadan, Ahmed Elkarmouty and Mostafa Elnaggar

Clinicopathological features of Egyptian colorectal cancer patients regarding somatic genetic mutations especially in KRAS gene and microsatellite instability status: a pilot study

Colorectal cancer (CRC) is the third most common cause of cancer-related deaths which contributes to a significant public health problem worldwide with 1.8 million new cases and almost 861,000 deaths in 2018 a...

Authors: Neemat M. Kassem, Gamal Emera, Hebatallah A. Kassem, Nashwa Medhat, Basant Nagdy, Mustafa Tareq, Rabab Abdel Moneim, Mohammed Abdulla and Wafaa H. El Metenawy

Gene-environment and gene-gene interactions between CHRNA3 rs1051730, XRCC1 rs25487, and ERCC1 rs735482 variants highly elevate the risk of lung cancer

Gene-gene and gene-environment interactions play an important role in cancer susceptibility. In this work, we studied the association of XRCC1 rs25487, ERCC1 rs735482, and CHRNA3 rs1051730 variants with lung canc...

Authors: Nada Ezzeldin, Dalia El-Lebedy and Asmaa Mohammed

Determinants of p14/ARF methylation in healthy females: association with reproductive and non-reproductive risk factors of breast cancer

DNA methylation is associated with the risk factors of breast cancer. However, the impact of the reproductive and non-reproductive risk factors of breast cancer on p14/ARF methylation is not well known. Therefore...

Authors: Ghada M. Ezzat and Mahmoud H. El-Shoeiby

Therapeutic potential of Hsp27 in neurological diseases

Heat shock proteins (Hsps) are widely reported in normal cellular dynamics under stress and non-stress conditions, and parallelly, the studies regarding its role in disease condition are also progressing stead...

Authors: Anila Venugopal, Kasthuri Sundaramoorthy and Balachandar Vellingiri

Association study of TAAAA polymorphism in the first intron of p53 gene with risk of colorectal cancer in Iranian population

Colorectal cancer is the most common gastrointestinal cancer and the third most common cancer over the world. Genetic mutations in the p53 gene are associated with tumorigenesis of most cancers. So far, no study ...

Authors: Zahra Fatehi, Farzane Amirmahani and Manoochehr Tavassoli

Adiponectin and human eating behaviour: a Mendelian randomization study

Adiponectin plays key roles in regulating appetite and food intake. Altered circulating adiponectin levels have been observed in human eating disorders such as anorexia nervosa, bulimia nervosa or binge eating...

Authors: Awoyemi Abayomi Awofala, Olusegun Emmanuel Ogundele, Khalid Olajide Adekoya and Samuel Adesayo Osundina

Plasminogen activator inhibitor-1 gene polymorphism as a risk factor for vascular complications in type 2 diabetes mellitus

Diabetes mellitus (DM) can lead to microvascular and macrovascular damages through hyperglycemia that is the main cause of diabetic complications. Other factors such as hypertension, obesity, and hyperlipidemi...

Authors: Fatma A. Khalaf, Hatem R. Ibrahim, Hanan M. Bedair, Maha M. Allam, Amr A. Elshormilisy, Samia T. Ali and Waseem M. Gaber

The role of protein inhibitor of activated STAT3 and miRNA-18a expressions in breast cancer

Breast cancer is a disease characterized by progressive genetic abnormalities including mutations in tumor suppressor genes and oncogenes, as well as other chromosomal abnormalities. Protein inhibitor of activ...

Authors: Azhar Mohamed Nomair, Sanaa Shawky Ahmed, Hanan Mohamed Nomeir, Hazem El Mansy and Ayman Farouk Mohammed

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

Down syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community. The well-known risk factor for chromosome 21 nondisjunction is advanced maternal age which failed ...

Authors: Lama M. El-Attar, Noha M. Issa and Hanan Salah Eldin Mahrous

The association between angiotensin II type 1 receptor A1166C gene polymorphism and the risk of essential hypertension: a meta-analysis

Since first reported having the association with essential hypertension, angiotensin II type 1 receptor (AT1R) A1166C was globally investigated worldwide. However, controversy was found. Furthermore, previous ...

Authors: Jonny Karunia Fajar, Melly Susanti, Budi Susetio Pikir, Putu Nina Berlinda Saka, Erdo Puncak Sidarta, Fredo Tamara, Rizal Rahmanda Akbar, Saga Aditya Hutama, Atma Gunawan and Teuku Heriansyah

Association of insulin gene VNTR INS -23/Hph1 A>T (rs689) polymorphism with type 1 diabetes mellitus in Egyptian children

Type1 diabetes mellitus (T1DM) has a multi-factorial pathogenesis; the interplay between genetic susceptibility and environmental factors is thought to provide the fundamental element for the disease. Apart fr...

Authors: Azza M. Kamel, Marwa F. Mira, Gamal T. A. Ebid, Samar H. Kassem, Eman R. Radwan, Mona Mamdouh, Maha Amin, Nora Badawy, Hafez Bazaraa, Amani Ibrahim and Nermine Salah

Serum level and single-nucleotide polymorphisms of toll-like receptor-7 among urinary bladder cancer Iraqi patients

Toll-like receptor 7 (TLR7), a member of TLR family, plays a pivotal role in pathogenesis of different malignancies. Among these is urinary bladder cancer (UBC), which has not been extensively studied. Therefo...

Authors: Rasha M. A. Al-Humairi, Muna T. Al-Musawi and Ali H. Ad’hiah

Screening for B cell, T cell and natural killer cell defects among children with methylmalonic and propionic acidemias

Patients with methylmalonic acidemias (MMAs) and propionic acidemias (PAs) were noticed to suffer recurrent infections with high morbidity and mortality during infections. Neutropenia, impaired phagocytic chem...

Authors: Shereen M. Reda, Heba S. Elabd, Rasha H. El-Owaidy, Ahmad M. Salah El Din and Mahmoud A. Hassan

MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of Down syndrome

Our aim was to evaluate the influence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism on maternal risk for Down syndrome (DS) and observe the impact of this polymorphism on folate, homocysteine, ...

Authors: Radhika Kedar and Divya Chandel

Telomere reprogramming during fetal life in low socioeconomic mothers

Relative telomere length (RTL), the biological chronometer, varies considerably among individuals under the influence of multiple risk factors such as socioeconomic status (SES). It is anticipated that during ...

Authors: Sadia Farrukh, Saeeda Baig, Rubina Hussain, Aqsa Shahid and Samahir Tariq Khan

Prognostic implications of IDH1rs11554137 and IDH2R140Q SNPs mutations in cytogenetically normal acute myeloid leukemia

Mutant isocitrate dehydrogenase (IDH) 1 and 2 alter the epigenetic landscape in acute myeloid leukemia (AML) cells through production of the oncometabolite (R)-2-hydroxyglutarate.

Authors: Sahar Samir AbdElMaksoud, Rasha Abd ElRahman ElGamal, Shaimaa Abdelmalik Pessar, Dalia Diaa ElDine Salem, Hanaa Fathey Abdelsamee and Heba Samy Agamy

Influence of dopaminergic system gene polymorphisms on mixed amphetamine-type stimulants and opioid dependence in Malaysian Malays

The dopaminergic pathways have previously been reported to be involved in drug dependence. The candidate gene involved in the dopaminergic function has been associated with substance abuse.

Authors: Abu Bakar Ruzilawati, Mohd Sidek Deeza-Syafiqah, Imran Ahmad, Shaharum Shamsuddin, Siew Hua Gan and Balasingam Kasinather Vicknasingam

Computer-aided identification of lung cancer inhibitors through homology modeling and virtual screening

Lung cancer is the most often event cancer around the world and the first leading cause of cancer death in human beings. Rab39a protein is implicated in vesicular trafficking and fusion of phagosomes with lyso...

Authors: Aboubakr Haredi Abdelmonsef

Association study of APOE gene polymorphisms with diabetes and the main cardiometabolic risk factors, in the Algerian population

Metabolic syndrome (MetS) represents a combination of at least three primary metabolic abnormalities among which obesity, hyperglycemia, dyslipidemia, and high blood pressure (HBP); once combined, they increas...

Authors: Houssam Boulenouar, Sounnia Mediene Benchekor, Hadjira Ouhaibi Djellouli, Sarah Aicha Larjam Hetraf, Leila Houti and Imane Hammani-Medjaoui

Protective association of VDR gene polymorphisms and haplotypes with multiple sclerosis patients in Egyptian population

Hypovitaminosis D is one of the hazardous factors for multiple sclerosis (MS) and can be attested by expanding clinical studies. We aimed to study vitamin D receptor (VDR) gene polymorphisms: FokI, BsmI, ApaI,...

Authors: Amina H. Hassab, Ahmed H. Deif, Dalia A. Elneely, Ireny M. Tawadros and Amira I. Fayad

Toxoplasmosis and abortion: pro- and anti-inflammatory cytokines gene expression of the host immune cells

Toxoplasmosis during pregnancy is known for inducing variable serious outcomes. In many previous studies, pregnancy was evaluated as a single event while in reality; it has different distinct immunological sta...

Authors: Mona Said El-Sherbini, Amany A. Abd El-Aal, Walid Sayed El-Sherbiny, Samar Sayed Attia, Inas Z. Abdel Aziz, Ghada M. Nasr, Mohamed Sayed Salama and Mohamed S. Badr

Induction of inflammatory response in human cell lines by arsenic-contaminated soil-isolated bacterium Micrococcus sp. KUMAs15

An arsenic-resistant microbial strain, Micrococcus sp. KUMAs15 isolated from West Bengal, India, has demonstrated high resistance to arsenic due to its arsenic accumulation and adsorption ability, establishing th...

Authors: Tanmoy Paul and Samir Kumar Mukherjee

Study of the impact of consanguinity on abortion and mortality in the population of Beni Abbes (southwestern Algeria)

Despite the numerous studies confirming the involvement of consanguinity in health problems, some populations around the world continue to practice this marital behavior. Algeria, like many Arab-Muslim countri...

Authors: Said Bachir and Ammaria Aouar