Articles

The prospective prognostic value of the immune checkpoint BTLA expression in adult acute myeloid leukemia patients

One of the crucial functions of the immune system is to prevent tumorigenesis, yet cancer occurs when malignant cells manage to evade immune surveillance via multiple strategies. Accordingly, this study aimed ...

Authors: Sara M. Radwan, Nooran S. Elleboudy, Nermeen A. Nabih, Amal El-kholy and Amany M. Kamal

Automated detection of colon cancer using genomic signal processing

Disorders in deoxyribonucleic acid (DNA) mutations are the common cause of colon cancer. Detection of these mutations is the first step in colon cancer diagnosis. Differentiation among normal and cancerous col...

Authors: Safaa M. Naeem, Mai S. Mabrouk, Mohamed A. Eldosoky and Ahmed Y. Sayed

Overexpression of lncRNA AFAP1-AS1 as a diagnostic biomarker in non-small cell lung cancer

Long non-coding RNAs (lncRNAs) play important roles in lung tumorigenesis. Among different lncRNAs, overexpression of the lncRNA actin filament‐associated protein 1‐antisense RNA 1 (AFAP1-AS1) in lung tumors has ...

Authors: Sajjad Ghalib Ibrahim Alnajar, Ali Rajabi, Melika Maydanchi, Samaneh Tayefeh Gholami, Ali Saber and Reza Safaralizadeh

Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)

Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that ar...

Authors: Nadia Waheed, Zafar Fayyaz and Ahmad Imran

Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India

Coronary artery disease (CAD) is a leading cause of morbidity and mortality, with a shifting trend towards the younger population. Paraoxonase1 (PON1) is a glycoprotein enzyme associated with high-density lipo...

Authors: Rohit Kumar, Vandana Saini, Charanjeet Kaur, H. S. Isser, Nitin Tyagi and Subhra Sahoo

Screening of single nucleotide polymorphisms among fuchs’ endothelial corneal dystrophy subjects in Malaysia

The pathophysiology underlying Fuchs' Endothelial Corneal Dystrophy (FECD), especially in older individuals, remains unclear, with a genetic predisposition being reported as the single best predictor of the di...

Authors: Ker Hsin Ng, Visvaraja Subrayan, Vasudevan Ramachandran and Fazliana Ismail

MicroRNAs as the critical regulators of protein kinases in prostate and bladder cancers

Bladder cancer (BCa) and prostate cancer (PCa) are frequent urothelial and genital malignancies with a high ratio of morbidity and mortality which are more common among males. Since BCa and PCa cases are mainl...

Authors: Malihe Zangoue, Amir Sadra Zangouei, Majid Mojarrad and Meysam Moghbeli

Decreased vitamin D levels in children with primary mono-symptomatic nocturnal enuresis

Nocturnal enuresis (NE) is a common voiding problem in pediatric populations. Relatively, few studies have investigated the 25-Hydroxyvitamin D and NE associations in children, which may open up a new research...

Authors: Farida M. El-Baz, Marian G. R. Abdelsayed, Aziza S. Abdel-Hafeez and Reham I. Abdelmageed

Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) a cofactor for adipose triglyceride lipase (ATGL) resulting...

Authors: Nadia Waheed, Sadaqat Ijaz and Zafar Fayyaz

Professor Rabah Mohamed Shawky, 1943–2021

Authors: Solaf M. Elsayed

Serum estrogen and its soluble receptor levels in Egyptian patients with acute leukemia: case-control study

Acute leukemias are malignant neoplastic diseases that arise from either lymphoid [ALL] or myeloid [AML] cell lines that are distinguished by the proliferation of BM non-functional immature cells and subsequen...

Authors: Samir Ali Abd El-Kaream, Samia Abd El-Moneim Ebied, Nadia Ali Sadek, Dina Mohamed Saad and Eman Attia Nadwan

A genetic variant of the NAMPT gene rs4730153 as a risk factor for the metabolic syndrome in younger age: a single-centre pilot study in Yogyakarta, Indonesia

The genetic variation of nicotinamide phosphoribosyl transferase (NAMPT) gene rs4730153 is reported to be associated with cardiometabolic risk, but the results are inconsistent between populations. Ethnicity, met...

Authors: Anggelia Puspasari, Pramudji Hastuti, Ahmad Hamim Sadewa, Rosdiana Mus, Citra Maharani and Ika Setyawati

SCGB3A1 gene DNA methylation status is associated with breast cancer in Egyptian female patients

In recent years, hypermethylation of gene promoters has emerged as one of the fundamental mechanisms for the inactivation of tumor suppressor genes and has a potential role in the early detection of breast can...

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

The prognostic impact of Wilms tumor-1 polymorphism (rs16754) and human myeloid inhibitory C-type lectin-like receptor expression in cytogenetically normal-acute myeloid leukemia

There are several genetic mutations that carry prognostic and predictive values in acute myeloid leukemia (AML). They are also implicated in disease pathogenesis and patient outcome. They can be a target of no...

Authors: Hanan M. Bedair, Mohamed H. Attia, Suzy F. Gohar, Fatma M. Khalaf, Sahar Badr El-DIN and Hatem Rabie

In silico investigations on curcuminoids from Curcuma longa as positive regulators of the Wnt/β-catenin signaling pathway in wound healing

Curcuma longa (Turmeric) is a traditionally used herb in wound healing. The efficacy of fresh turmeric paste to heal wounds has already been investigated in multiple ethnobotanical studies. Wnt/β-catenin signalin...

Authors: Riyan Al Islam Reshad, Sayka Alam, Humaira Binte Raihan, Kamrun Nahar Meem, Fatima Rahman, Fardin Zahid, Md. Ikram Rafid, S. M. Obaydur Rahman, Sadman Omit and Md. Hazrat Ali

Combined markers for predicting cognitive deficit in patients with Alzheimer’s disease

Alzheimer’s disease (AD) is the most widely recognized type of dementia. It is associated with cell cycle abnormalities including genomic instability and increased micronuclei (MNi) which usually evolve many y...

Authors: Dalia Farouk Hussen, Ayat Allah Farouk Hussein, Mahmoud Abdel Moety Monzer and Saida Ali Hammad

Computer-aided design of some quinazoline analogues as epidermal growth factor receptor inhibitors

The treatment of epidermal growth factor receptor (EGFR)-muted non-small cell lung cancer (NSCLC) remains among the utmost important unachieved therapeutic need worldwide. Development of EGFR inhibitors to tre...

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

Study of HOTAIR LncRNA in AML patients in context to FLT3-ITD and NPM1 mutations status

Long non-coding RNAs (LncRNAs) have recently been considered promising biomarkers for oncogenesis due to their epigenetic regulatory effects. HOTAIR is one of the oncogenic LncRNAs that was previously studied ...

Authors: Mona Salah, Hamdy Zawam, Neven Bahaa Fouad, Nohair Soliman and Fatma Abdel Wahab Abdel Maksoud

In silico studies of bioactive compounds from selected African plants with inhibitory activity against nitric oxide synthase and arginase implicated in asthma

It is a known fact that arginine is a common substrate for arginase and nitric oxide synthase (NOS). However, an imbalance between both enzymes could lead to a change in airway responses. Reports suggest that ...

Authors: Haruna Isiyaku Umar, Tolulope Peter Saliu, Sunday Solomon Josiah, Adeola Ajayi and Jamilu Bala Danjuma

A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

Although there is relatively much information about the status of cystic fibrosis disease in different countries of the world, limited data are available on this disease among Syrian children. Therefore, we di...

Authors: Raghad Al-Baba and Almoutassem Billah Zetoune

RUNX1 gene expression in Egyptian acute myeloid leukemia patients: may it have therapeutic implications?

Acute myeloid leukemia represents the highest percentage of all adult acute leukemia variants. Runt-related transcription factor1 (RUNX1), a transcription factor with a known tumor suppressor function, was recent...

Authors: Fadwa Said, Roxan E. Shafik and Naglaa M. Hassan

A clinical case of multiple primary cancers in a carrier of rare SDK2 and NOTCH2 gene mutations

Genetic predisposition is one of the risk factors for the development of multiple primary cancers (MPCs), the frequency of which increases and ranges from 2 to 17%. This study describes a combination of rare m...

Authors: Nataliya N. Timoshkina, Dmitry Y. Gvaldin, Ekaterina P. Omelchuk, Larisa N. Vashhenko, Tatjana V. Ausheva, Emma E. Kechedzhieva and Oleg I. Kit

PERIOD3 gene P415A/H417R polymorphism-linked familial advanced sleep phase

Authors: Chidiebere Emmanuel Okechukwu

Vitamin D levels and vitamin D receptor genetic variants in Egyptian cardiovascular disease patients with and without diabetes

25-Hydroxyvitamin D (Vit.D) levels associated with cardiovascular disease (CVD) may vary according to genetic variants in the vitamin D receptor (VDR) gene. However, the existing results are not conclusive in ...

Authors: Soad M. Eweida, Ahmed Salem, Yehia M. Shaker, Nervana Samy, Ibrahim Yassen and Rania Hassan Mohamed

Protein secondary structure prediction (PSSP) using different machine algorithms

The computational biology approach has advanced exponentially in protein secondary structure prediction (PSSP), which is vital for the pharmaceutical industry. Extracting protein structure from the laboratory ...

Authors: Heba M. Afify, Mohamed B. Abdelhalim, Mai S. Mabrouk and Ahmed Y. Sayed

In vitro characterization of human bone marrow mesenchymal stem cell-derived motor neurons induced by epigenetic modifiers

Motor neurons (MNs) are distinct types of cells in the dorso-ventral axis of the spinal cord. These cells are developed in the presence of two main morphogens, including Sonic hedgehog (Shh) and retinoic acid ...

Authors: Davood Sanooghi, Parham Vahdani, Zohreh Bagher, Faezeh Faghihi and Abolfazl Lotfi

Recent advances in pharmacological diversification of Src family kinase inhibitors

Src kinase, a nonreceptor protein-tyrosine kinase is composed of 11 members (in human) and is involved in a wide variety of essential functions required to sustain cellular homeostasis and survival.

Authors: Preeya Negi, Rameshwar S. Cheke and Vaishali M. Patil

Evaluation of the impact of adaptation of Klebsiella pneumoniae clinical isolates to benzalkonium chloride on biofilm formation

The percentage of the multidrug resistant Klebsiella pneumoniae clinical isolates is increasing worldwide. The excessive exposure of K. pneumoniae isolates to sublethal concentrations of biocides like benzalkoniu...

Authors: Engy A. Elekhnawy, Fatma I. Sonbol, Tarek E. Elbanna and Ahmed A. Abdelaziz

Phenotypic and genetic evaluation of human monocyte-derived dendritic cells generated from whole blood for immunotherapy

Dendritic cells (DCs) recognize different pathogens and cancer cells and activate the adaptive immune response. The generation of effective DC-based cancer vaccines depends on the appropriate differentiation o...

Authors: Yousri M. Hussein, Doaa M. Hendawy, Abdalrahman N. Alghamdy and Nermin Raafat

rs2253310 and rs4946936 common variants of FOXO3 gene in octogenarians and cancer: a pilot study in north India

Healthy aging perceives human longevity probably due to carrying the defensive genes. Forkhead box O (FOXO) transcription factors provide the most convincing example of a conserved genetic pathway at the point...

Authors: Neelam Tia, Moti Lal and I. S. Gambhir

Role of engulfment and cell motility 1 (ELMO1) gene polymorphism in development of diabetic kidney disease

Diabetic kidney disease (DKD) is a progressive kidney disease that affects diabetic patients irrespective of glycemic state or hypertension. Therefore, early detection of DKD is of critical importance. Many ge...

Authors: Thoria A. Omar, Shimaa K. Zewain, Mohamed M. Ghonaim, Khadija A. Refaat and Dalia H. Abou-Elela

An association study between FokI, BsmI, miR-146a, and miR-155 and Behcet’s disease in the Egyptian population

Behcet’s disease (BD) is a systemic inflammatory disease of the blood vessels and affects various body parts. This study aimed to determine the association of four single-nucleotide polymorphisms (SNPs) and BD...

Authors: Mohamed M. Emara, Maiada M. Mahmoud, Mohamed N. Saad, Mai S. Mabrouk, Mohamed Hamed and Olfat G. Shaker

PIM2 and NF-κβ gene expression in a sample of AML and ALL Egyptian patients and its relevance to response to treatment

The relation between PIM2 and the transcriptional factor NF κβ have been controversial in literature. The significance of PIM2 and NF-κβ genes expression on the incidence of acute leukemia (AML and ALL) and its r...

Authors: Shymaa Kamal El Din Abed El Rahman, Sanaa Sayed Abd Elshafy, Mohamed Samra, Hala Mohammed Ali and Rabab Afifi Mohamed

The expression profile of circANKRD36 and ANKRD36 as diagnostic biomarkers of chronic kidney disease in patients with type 2 diabetes mellitus

The molecular mechanisms for chronic kidney disease (CKD) remain largely unknown and appear to be multifactorial. In the current study, we aimed to study the circulatory levels of circular ankyrin repeat domai...

Authors: Nearmeen M. Rashad, Mohamed H. Sherif, Amal S. El-Shal and Mona A. E. Abdelsamad

Differential gene expression analysis of ankylosing spondylitis shows deregulation of the HLA-DRB, HLA-DQB, ITM2A, and CTLA4 genes

Ankylosing spondylitis (AS) is a rare inflammatory disorder affecting the spinal joints. Although we know some of the genetic factors that are associated with the disease, the molecular basis of this illness h...

Authors: Rowan AlEjielat, Anas Khaleel and Amneh H. Tarkhan

Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms ...

Authors: Asal Gailan Abdul-Qadir, Bassam Musa Al-Musawi, Rabab Farhan Thejeal and Saad Abdul-Baqi Al-Omar

Association study between asthma and single nucleotide polymorphisms of ORMDL3, GSDMB, and IL1RL1 genes in an Algerian population

Genetic variation has a key role in the development of asthma, but genetic influences may vary between different populations. In this study, we looked for evidence of association of key asthma SNPs, namely, rs...

Authors: Mouna Ziani, Amanda P. Henry and Ian P. Hall

Characterization of the SARS-CoV-2 coronavirus X4-like accessory protein

The novel coronavirus SARS-CoV-2 is currently a global threat to health and economies. Therapeutics and vaccines are in rapid development; however, none of these therapeutics are considered as absolute cure, a...

Authors: Olanrewaju Ayodeji Durojaye, Nkwachukwu Oziamara Okoro and Arome Solomon Odiba

Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate

Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelin...

Authors: Sergio Arias, Irene Paradisi, Alba Hernández and Daniela Kanzler

HLA-A gene knockout using CRISPR/Cas9 system toward overcoming transplantation concerns

The treatment of many cancers and genetic diseases relies on novel engraftment approaches such as cell therapy and hematopoietic stem cell transplantation (HSCT). However, these methods are hindered by the all...

Authors: Farshid Amiri, Maryam Ranjbar, Mohammad Pirouzfar, Marjan Nourigorji and Mehdi Dianatpour

HOTAIR expression and prognostic impact in acute myeloid leukemia patients

Acute myeloid leukemia (AML) is a disorder characterized by a rapid onset of symptoms attributable to bone marrow failure due to clonal proliferation of primitive hematopoietic stem cells or progenitor cells. ...

Authors: Rawda Ahmed Alaa Eldin, Amany Ahmed Osman, Mona Fathey Abdel Fattah Hassan, Shereen Abdel Monem Ibrahim and Yasmin Nabil El-Sakhawy

Potential treatment for chronic myeloid leukemia using microRNA: in silico comparison between plants and human microRNAs in targeting BCR-ABL1 gene

Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the expression of the BCR-ABL1 fusion gene. Tyrosine kinase inhibitors (TKI) are used to treat CML, but mutations in the tyrosine k...

Authors: Syarifah Faezah Syed Mohamad and Marjanu Hikmah Elias

Genetic polymorphism of HLA-G gene (G*01:03, G*01:04, and G*01:05N) in Iraqi patients with inflammatory bowel disease (ulcerative colitis and Crohn’s disease)

Human leukocyte antigen-G (HLA-G) has been proposed to influence susceptibility to inflammatory bowel disease (IBD). Therefore, the genetic association between HLA-G alleles and two clinical phenotypes of IBD ...

Authors: Sarah S. Abdul-Hussein, Ekhlass N. Ali, Neihaya H. Zaki and Ali H. Ad’hiah

Dysregulation of CCAAT/enhancer binding protein-alpha (CEBPA) expression in the bone marrow of acute myeloid leukemia patients

Acute myeloid leukemia (AML) is a heterogeneous malignant disease characterized by accumulation of different types of mutations commonly the CCAAT/enhancer binding protein-alpha (CEBPA). However, the dysregulatio...

Authors: Naglaa M. Hassan, Fadwa Said, Roxan E. Shafik and Mona S. Abdellateif

Insulin-like growth factor binding protein 1 DNA methylation in type 2 diabetes

Type 2 diabetes (T2D) is a complex trait in humans. Several environmental and hereditary factors contribute to the overall pathogenesis of this disease. The association between genes, environment, and T2D was ...

Authors: Sally M. Hafez, Hazem. El-Sayed Abou-youssef, Mona Abdel-Kader Awad, Solaf Ahmed Kamel, Rasha N. Youssef, Suzan Mahrous Elshiekh, Hala Raslan and Nehal Salah

Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live birth...

Authors: Jay J. Desai, Sreelata B. Nair and S. Pappachan

Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians

Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel a...

Authors: Shilpa Reddy, Sailaja Maddhuri, Pratibha Nallari, Venkateshwari Ananthapur, Srinivas Kalyani, Murali Krishna, Nirmala Cherkuri and Sireesha Patibandala

Potential role of vitamin D receptor-related polymorphisms in bronchopulmonary dysplasia

The potential contribution of vitamin D and its receptor (VDR) to bronchopulmonary dysplasia (BPD) in preterm neonates is still unknown. The objective of the study was to test the relationship between VDR Taq 1 a...

Authors: Walaa Alsharany Abuelhamd, Nancy Abdel Salam Gomaa, Alaa Gad and Rehab El-Wakeel

Computer-assisted evaluation of plant-derived β-secretase inhibitors in Alzheimer’s disease

Alzheimer’s disease (AD) is a progressive neurodegenerative age-related dementia that results in memory loss of elderly people. Many hypotheses have been formally articulated till now to decipher the pathogene...

Authors: Md. Asad Ullah, Fatema Tuz Johora, Bishajit Sarkar, Yusha Araf, Nafisa Ahmed, Abida Nurun Nahar and Tanzina Akter

Impact of Cytochromes P450 3A4 and 2B6 gene polymorphisms on predisposition and prognosis of acute myeloid leukemia: an Egyptian case-control study

It has been postulated that the interaction between environmental risk factors and genetic susceptibility is a possible cause for the development of acute myeloid leukemia (AML). Cytochrome P450 (CYP) detoxifi...

Authors: Shahira Kamal Anis Botros, Nesrine El Gharbawi, Gehan Shahin, Hend Al Lithy and Mahmoud El Sherbiny