MTHFR C677T polymorphism and risk of esophageal cancer: An updated meta-analysis
Publication date: October 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 4Author(s): Pradeep Kumar, Vandana RaiAbstractBackgroundMethylenetetrahydrofolate reductase (MTHFR) is a key enzyme involved in folate/homocysteine metabolism. A polymorphism C677T has been reported to be linked with risk of several diseases/disorders like birth defects, metabolic and psychiatric disorders and different cancers. The association between esophageal cancer and MTHFR gene C677T polymorphism has been investigated in several case-control studies, which rendered contradictory results.AimTo shed light on association ...
Source: Egyptian Journal of Medical Human Genetics - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Removal notice to “An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings” [Egypt J Med Hum Genet 18 (2017) 393–396]
This article has been removed: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal).This article was removed at the request of the authors due to developments in the reported case. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion
ConclusionEarly diagnosis of hemochromatosis is important in terms of prognosis and morbidity. We aimed to emphasize that we can easily diagnose the disease by performing genetic analysis in cases with suspected hemochromatosis even they have no complaints. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 16, 2018 Category: Genetics & Stem Cells Source Type: research

Pathogenic predictions of non-synonymous variants and their impacts: A computational assessment of ARHGEF6 gene
ConclusionThese findings can be supportive of genotype-phenotype research as well as the development in pharmacogenetics studies. Finally, this study revealed a significance of computational methods to figure out highly pathogenic genomic variants linked with the structural and functional relationship of ARHGEF6 protein. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study
ConclusionNo significant association between PAI-1 4G/5G and C > G polymorphisms and the risk of coronary artery disease or the activity level of PAI-1 among the studied Egyptian population sample. However, STEMI patients showed significant presence of combined mutant allele of both genes more frequently. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 13, 2018 Category: Genetics & Stem Cells Source Type: research

Pathophysiology of bleeding diathesis in haemophilia-A: A sequential and critical appraisal of non-FVIII related haemostatic dysfunctions and their therapeutic implications
This articles is aimed at providing a composite and comprehensive review of the roles of non-FVIII haemostatic defects and their therapeutic implications in haemophilic bleeding diathesis, which will enable a holistic approach towards clinical management of the bleeding diathesis. This is necessary because FVIII therapy alone maybe insufficient in managing complicated haemophilic bleeding unless compounding non-FVIII-related haemostatic dysfunctions and comorbidities are identified, targeted and treated. This will necessitate appropriate use of non-FVIII therapeutic modalities, which may include anti-fibrinolytic agents, F...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Cantu syndrome in an Egyptian child
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Detection of antimicrobial resistance genes of Helicobacter pylori strains to clarithromycin, metronidazole, amoxicillin and tetracycline among Egyptian patients
ConclusionData concerning antimicrobial resistance genes play an important role in empiric treatment of H. pylori infection. According to our results, H. pylori resistance to metronidazole and amoxicillin was relatively high. Clarithromycin is still a good option for first line anti-H. pylori treatment. Combined resistant strains are emerging and may have an effect on the combination therapy. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

New insights into smudge cell percentage in chronic lymphocytic Leukemia: A novel prognostic indicator of disease burden
Publication date: Available online 21 February 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Amal Abd El Hamid Mohamed, Nesma Ahmed SafwatAbstractBackgroundPercentage of smudge cells in CLL patients has recently been reported as a novel prognostic factor.ObjectivesTo investigate the impact of smudge cells percentage on the clinicolaboratory data of CLL patients and to evaluate the relationship between it and other prognostic factors in CLL.MethodsNinety adults with CLL were enrolled. Smudge cells percentage was calculated by microscopic evaluation of blood smears. Testing of CD38 expression was done by i...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Metadherin mRNA expression in hepatocellular carcinoma
Publication date: Available online 23 February 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Nevein M. Al-sheikh, Sally M. El-Hefnway, Ahmed M. Abuamer, Ashraf G. DalaAbstractBackgroundMetadherin (MTDH) has been known as an essential oncogene in carcinogenesis and tumor spread in several malignancies, via its effect on pathways of signal transduction.ObjectiveWe aimed to evaluate the role of serum MTDH mRNA expression in the diagnosis of hepatocellular carcinoma (HCC) and to compare its expression levels with serum levels of Alpha-fetoprotein (AFP).Subjects & methodsA total of 150 subjects (90 HCC pa...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Study of the role of IL-17F gene polymorphism in the development of immune thrombocytopenia among the Egyptian children
ConclusionOur study suggests that IL17F gene polymorphism at rs7488A/G may not contribute to the susceptibility in development of primary immune thrombocytopenia in the Egyptian children. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients
ConclusionOur study revealed that the risk of developing end stage renal diseases was increased among carriers of AA genotype for the rs10887800 polymorphism and GG genotype for the rs2576178 polymorphism. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The cephalofacial characterization in humans: The study using igbo tribe in Nigeria
Publication date: Available online 7 March 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Godwin Sunday Obaje, Godwin Chinedu UzombaAbstractBackgroundCranial and facial indices are among the most important craniofacial parameters most useful racial classification, categorization and forensic examination. In this, cranial and facial parameters serve as bio-anthropological tools for both biometric and crime scene purposes in the developed nation. Despite the rise in crime scenes and body mutilations in Nigeria, very little information is available on anthropometric variables using head and face of Igbo extr...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

In silico analysis of the functional non-synonymous single nucleotide polymorphisms in the human CYP27B1 gene
ConclusionThese nsSNPs could contribute to vitamin D deficiency and its associated pathological conditions. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A study on the association of TCF7L2 rs11196205 (C/G) and CAPN10 rs3792267 (G/A) polymorphisms with type 2 diabetes mellitus in the South Western of Iran
ConclusionOur results showed that TCF7L2 rs11196205 and CAPN10 rs3792267 (SNP- 43) polymorphisms are not associated with the risk of T2DM in the studied population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients
ConclusionThe C282Y mutation was not detected in the studied cohort of Egyptian β-TM patients neither in homozygous nor heterozygous state in spite of manifestations of iron overload complications. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein
ConclusionBased on these data, it can be concluded that the V279F polymorphism influences the surface structure, energy stability, epitope and immunogenicity of the Lp-PLA2 protein. The changes in the immunogenicity and epitope shift indicated that the protein is valuable as a biomarker for use in acute myocardial infarct. The results of this study provide an opportunity to develop monoclonal antibodies that are specifically able to identify V279F polymorphisms as a predictor of the risk of acute myocardial infarct. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Study of serum copper and ceruloplasmin levels in Egyptian autistic children
Publication date: April 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 2Author(s): Farida El-Baz, Mohamed E. Mowafy, Ahmed LotfyAbstractBackgroundAutism is a behaviorally defined neurodevelopmental disorder of unknown etiology.ObjectiveTo assess serum copper and ceruloplasmin levels in Egyptian autistic children patients.Subjects and methods40 participants have been subjected to thorough history taking, complete clinical examination, IQ assessment, estimation of serum copper and ceruloplasmin levels.ResultsA statistically significant difference was found between patients and controls as regards st...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study
This study included 94 children between 2 and 13 years old; Fifty in-patient asthmatic children and 44 non-asthmatic children as control group who were out-patients of the same hospital. Throat and nasal swab samples were taken for DNA extraction and PCR procedures.ResultsPCR results show that 33.3% asthmatic patients were positive for M. pneumoniae while 66.7% were negative (p 
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults
ConclusionThis study in young Nigerian adults confirmed previously reported association of SNP −11377C>G with obesity measures in other populations. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes
ConclusionOur findings indicate a loss of the correct regulation of rDNA activity and processing after amplification. This could disturb the ribosomal apparatus and thus lead to intellectual disability via at least two mechanisms. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track?
ConclusionMultiplex-PCR permits simultaneous detection of several bacterial pathogens in a single reaction with best turnaround time that permit optimization of emergency diagnosis of VAP and subsequently improve early management of selective bacterial pathogens. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability
ConclusionThe translocated chromosome in the proband was most likely inherited from the mother and did not come about de novo with normal chromosomes 13 and 14 being obtained from the father. The cause of the pathogenesis in the proband still remains unknown. We hypothesize that it could be caused by impaired imprinting manifesting in altered methylation levels of loci on the derivative chromosome. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

First report of microcephaly-capillary malformations syndrome in Russia
ConclusionsThis report presents a case of MIC-CAP syndrome with earlier unreported new mutations of the STAMPB gene. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Are we missing fucosidosis?
Publication date: April 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 2Author(s): Solaf Elsayed (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis
In conclusion, present meta-analysis suggests that MTHFR C677T polymorphism of fetus is not risk factor for DS. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology
Publication date: April 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 2Author(s): Rafael Vincent M. Manalo, Paul Mark B. MedinaAbstractThe minute experience of disease progression happens in the cell. Whereas recent researches have focused separately on disease, molecular mechanisms reveal the coincidence of pathways that provide guided benefit to biomedicine. Interestingly, taken-for-granted mechanisms like endoplasmic reticulum (ER) quality control or ion exchange and cell polarity indeed play major roles in epidemiologically relevant problems like viral infection, tumorigenesis and other chron...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy
Publication date: April 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 2Author(s): A.S. Odiba, V.E. Ottah, O.O. Anunobi, C.Y. Ukegbu, R. Uroko, C.U. Ottah, A.A. Edeke, K. Omeje (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration
ConclusionThe present study showed no evidence of association between C3 R102G polymorphism and nAMD in Malaysian subjects. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Impact of migration on the expression of aggression and empathy in urban populations
ConclusionVariation in the level of aggression is much more dependent on the genetic factor (4%) rather than on the environmental (1.8%). The rate of the environmental factor in the empathy variation is 9%, when the genetic − 7%. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients
ConclusionPromoter methylation of DKK3 and RASSF1 was found in breast cancer patients while absent in control group suggesting that tumorspecific methylation of the two genes (DKK3 and RASSF1A) might be a valuable biomarker for the early detection of breast cancer. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population
DiscussionThese findings suggest that the combined homozygous and heterozygous variants of each codon and the 194Trp allele are associated with the disease, however when genotypes were compared individually, the association turned out to be insignificant. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Correlation between cognitive function, gross motor skills and health – Related quality of life in children with Down syndrome
ConclusionThe cognitive function and HRQOL should be considered in the evaluation of children with DS in addition to gross motor skills as there was a correlation between the cognitive function, HRQOL and GMFM. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
ConclusionResults from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

FLT3 receptor/CD135 expression by flow cytometry in acute myeloid leukemia: Relation to FLT3 gene mutations and mRNA transcripts
ConclusionEvaluation of FLT3 receptor/CD135 expression by flow cytometry at diagnosis of AML could constitute a predictor for the FLT3-ITD mutational status and FLT3 transcript level. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Left ventricle myocardial performance in Down Syndrome children with clinically and anatomically normal hearts: Relationship to oxidative stress
Publication date: Available online 21 May 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Omneya Ibrahim Youssef, Soha Youssef RaoufAbstractOxidative stress is implicated in many organs pathophysiologies in Down syndrome. Scarce data exist concerning left ventricular (LV) performance in DS children with normal hearts. Tissue Doppler derived myocardial performance index (TDI-Tei index) is a reliable method for ventricular performance evaluation. Myeloperoxidase (MPO) enzyme plays a crucial role in oxidants production and is a marker of cardiovascular risk.AimTo evaluate LV myocardial performance in DS child...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic study of the NOTCH3 gene in CADASIL patients
ConclusionWe found four novel mutations (P109T, P203H, IVS7 + 15A>G and IVS7 + 16A>G) and 2 reported NOTCH3 mutations. Exon 4 and Intron 7 are hotspots in the patients we examined with the NOTCH3 mutations. These findings broaden the mutational spectrum of CADASIL. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of health-related quality of life and muscular strength in children with beta thalassemia major
ConclusionsThe study concluded that thalassemia as a chronic disease has a negative impact on HRQoL and muscle strength of children in different age group. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Study of congenital malformations in infants and children in Menoufia governorate, Egypt
Publication date: Available online 31 May 2018Source: Egyptian Journal of Medical Human GeneticsAuthor(s): Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. ElbadawiAbstractCongenital anomalies is one of the main causes of physical disabilities, stillbirths and neonatal deaths. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are accused.We aimed to study congenital anomalies regarding frequency, clinical pattern and associated risk factors.A cross-sectional study was conducted on 100 infants and children with congenital anomalies attended to o...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Study of DNA methyl transferase 3A mutation in acute myeloid leukemic patients
ConclusionDNMT3A R882H is a frequent mutation in adult de novo AML. The frequency of the mutation tends to increase with age. The two methods used in the study are easy to interpret and are recommended for rapid detection of the mutation required for risk stratification. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Angiotensin-converting enzyme (ACE) I/D and bradykinin B2 receptor T/C genes polymorphism in patients with ACE inhibitors-related cough
ConclusionsWhile the evidence in our meta-analysis suggests strong role for bradykinin gene polymorphism in ACE inhibitors-related cough, however, in our population, we did not find any association. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt
ConclusionG-banded karyotyping is a useful tool with reasonable yield in evaluation of children with developmental delay and/or dysmorphic features, especially in countries with limited resources. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia
In this study, we aimed to analyze mutations in MYH9 gene in our patient, we found a T to G nucleotide change at 3814 in exon 25, resulting in a transition of Serine to Alanine (p.S1195A) in MYH9 gene (Fig. 1) This mutation is reported for the first time in our population and not defined at Human Gene Mutation Database (HGMD) previously. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of dysmorphic children according to echocardiographic findings: A single center experience
ConclusionAccording to our study findings, abnormal echocardiography findings were significantly associated with neonatal sex, consanguineous marriage, polyhydramnios, IUGR, preterm delivery and chromosomal aneuploidies in dysmorphic children. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Editorial Board
Publication date: July 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 3Author(s): (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Modified T-cells (using TCR and CTAs), chimeric antigen receptor (CAR) and other molecular tools in recent gene therapy
Publication date: July 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 3Author(s): A.S. Odiba, V.E. Ottah, O.K. IrohaAbstractT-cell-based cancer immunotherapy by the transfer of cloned TCRs that are isolated from tumor penetrating T-cells becomes a possibility through NY-ESOc259; a human-derived affinity-enhanced TCR that provides a level of sufficiency in long-term safety and efficacy. NY-ESOc259 recognizes a peptide common to CTAs (LAGE-1 and NY-ESO-1) in melanoma. Risks associated with insertion related transformation in gene therapy have been alleviated through strategies that include the engin...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Autism and KIR genes of the human genome: A brief meta-analysis
ConclusionsAutism spectrum disorders are accompanied by KIR3DS1 which is an activating gene of KIR. It seems that hyper-activity of NK cells results in inflammation in neuroimmune system that in turn can be associated with autism. The legend of 3DS1 receptor is unknown, and suggested to be investigated. This meta-analysis should be updated in future. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Oncolytic virotherapy – A novel strategy for cancer therapy
Publication date: July 2018Source: Egyptian Journal of Medical Human Genetics, Volume 19, Issue 3Author(s): Mohanan Geetha Gopisankar, A. SurendiranAbstractOncolytic virotherapy is a new modality of cancer treatment which uses competent replicating viruses to destroy cancer cells. This field progressed from earlier observations of accidental viral infections causing remission in many malignancies to virus drugs targeting and killing cancer cells. More competent and specific viruses which attack tumor cells but not healthy cells could be made with advancements in the field of genetic engineering. Studying virus as a drug ha...
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of toll-like receptor 2 polymorphisms with susceptibility to pulmonary tuberculosis in Sudanese
ConclusionOur study suggests that allele G of rs765641 on TLR2 gene might influence susceptibility to pulmonary tuberculosis in Sudanese. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Impact of cell death pathway genes Fas 21377AA and FasL 2844CC polymorphisms on the risk of developing non-small cell lung cancer
ConclusionThe interaction of the cell death pathway genes Fas and FasL polymorphisms could be associated with the risk of lung cancer, in the same respect Fas AA genotype could also potentiate this risk. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research