Egyptian Journal of Medical Human Genetics 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease
Publication date: Available online 19 October 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): Alyaa A. Kotby, Marwa M. Al-Fahham, Heba Salah A. Elabd, Osama K. Zaki (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - November 26, 2017 Category: Genetics & Stem Cells Source Type: research
Risk factors of neural tube defects: A reality of Batna region in Algeria
Conclusion NTD represents a real public health problem in Batna, Algeria. Various genetic and/or nutritional factors are implicated, although the mechanism is not clear. We suggest that further research should continue planning for preventive measures and effective treatment to reduce the incidence of NTDs in Algeria. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - November 26, 2017 Category: Genetics & Stem Cells Source Type: research
Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives
Publication date: Available online 31 October 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): Umma A. Ibrahim, Sagir G. Ahmed Haemophilia-A is an X-linked recessive bleeding disorder characterized by deficiency of FVIII. Although severity of haemophilia is largely determined by the extent to which different mutations abolish FVIII production, the overall phenotypic variations among haemophiliacs is determined by a combination of several other factors, which range from general to tropical factors on the one hand, and from genetic to immunologic and infective factors on the other hand. Determinants and ...
Source: Egyptian Journal of Medical Human Genetics - November 26, 2017 Category: Genetics & Stem Cells Source Type: research
Autism and KIR genes of the human genome: A brief meta-analysis
Conclusions Autism 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 - November 26, 2017 Category: Genetics & Stem Cells Source Type: research
Long noncoding RNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT1): A molecular predictor of poor survival in glioblastoma multiforme in Egyptian patients
Conclusion Taken together, we could postulate that MALAT1 might have a tumor-suppressive function in GBM in Egyptian population and this specific type of lncRNAs may be included in the lists of both potential prognostic biomarkers and the future therapeutic targets for glioblastomas. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
Impact of migration on the expression of aggression and empathy in urban populations
Conclusion Variation 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
An association between apo-A4 gene polymorphism (Thr347Ser and Gln360His) and coronary artery disease in northern India
Conclusion To accomplish, this preliminary study brought the information on the ApoA4 polymorphism in the Asian Indians residing in Delhi and adjacent areas. The minor alleles of the Ser347 and His360 showed significant association with lipid risk factors like high levels of OXLDL, TC, and low HDL levels. However neither of these polymorphisms showed an association with CAD. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients
Conclusion Promoter 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology
Publication date: Available online 12 July 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): Rafael Vincent M. Manalo, Paul Mark B. Medina The 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 chronic ...
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 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
Conclusion The 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 - October 14, 2017 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: Available online 13 July 2017 Source:Egyptian Journal of Medical Human Genetics Author(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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population
Discussion These 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients
Conclusion The 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein
Conclusion Based 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 - October 14, 2017 Category: Genetics & Stem Cells Source Type: research
