Egyptian Journal of Medical Human Genetics 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.

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
ConclusionSerum copper level may have a role in the pathogenesis of autism. (Source: Egyptian Journal of Medical Human Genetics)
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
ConclusionsFamily history of atopy has strong association with asthma (p = 0.005), while factors such as sex, residence, seasonal allergen, animal allergen, passive smoking, mode of delivery or consanguinity has not been associated with asthma. M. pneumonia in a respective bulk among pediatric patients with asthma constituted an important risk factor for asthma exacerbation presented as cough and wheezy chest without fever or chest X-ray findings. (Source: Egyptian Journal of Medical Human Genetics)
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