Egyptian Journal of Medical Human Genetics Egyptian Journal of Medical Human Genetics RSS feedThis 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.

Vitamin D receptor gene variants in Parkinson ’s disease patients
Conclusion This study demonstrates a possible association between the VDR FokI and ApaI polymorphism and PD, indicating that VDR polymorphisms may change genetic susceptibility to sporadic PD in the Iranian population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 21, 2016 Category: Genetics & Stem Cells Source Type: research

A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations
Conclusion Genetic counseling plays a key role in the management of such high-risk families and hence helps in avoiding or reducing disease recurrence in their future generations. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 16, 2016 Category: Genetics & Stem Cells Source Type: research

Alu insertion/deletion of ACE gene polymorphism might not affect significantly the serum bradykinin level in hypertensive patients taking ACE inhibitors
Conclusion This study suggests that the polymorphism might not significantly affect the serum bradykinin level in hypertensive patients taking ACE inhibitors. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 2, 2016 Category: Genetics & Stem Cells Source Type: research

Association analysis of polymorphisms in EGFR, HER2, ESR1 and THRA genes with coronary artery diseases
Conclusion Our results suggest the absence of any significant association between the four polymorphisms analyzed and CAD risk as well as disease severity. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 30, 2016 Category: Genetics & Stem Cells Source Type: research

Identification of mutations in Iranian patients ’ DAX-1 gene with X-linked adrenal hypoplasia congenital
Conclusion Both mentioned mutations are located at crucial and functional region DAX1 protein. They are detected in the C-terminal region of DAX1 protein which is involved by the conserved amino acid chain as well as transcriptional silencing domain. By considering other investigation, mutations in this region probably lead to produce a misfolded protein. Consequently, the misfolded protein would not work influentially in order to inhibit some gene expression. As a result, our findings will expand the variety of DAX1 mutations. On the other hand, it is revealed that these mutations play a key role in the pathogenesis of AH...
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

Can food addiction replace binge eating assessment in obesity clinics?
Conclusion This study proved a reconciliation between BE and FA in a non-clinical sample of Egyptian adolescents. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

MicroRNA-146a expression as a potential biomarker for rheumatoid arthritis in Egypt
Conclusion This study demonstrated that miR-146a expression was highly significantly elevated in whole blood of patients with RA. Its diagnostic performance was better than anti-CCP and RF and its level of expression correlates with disease activity. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma
Conclusion The current study further endorses the role of CYP1B1 mutations in the etiology of PCG among Egyptian patients and is the first study to report MYOC gene mutation in Egyptian patients with PCG. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis
Conclusions In the Asian population, the β fibrinogen gene G-455A polymorphism was associated with the risk of CHD. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

Non ‐invasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and prospects
Discussion Cell-free fetal DNA testing represents the best screening method for common aneuploidies, and should its cost decrease, its use may be more widespread. But presently, contingent screening strategies may represent a cost-effective alternative. This review provides a current overview of this relevant theme. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

Meier –Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly
We report a 4.5year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature) with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia), retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot ’s spots and agenesis of the corpus callosum in an Egyptian child
We report a 2.5year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency. MRI brain revealed agene...
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

Sirtuin 1 gene rs2273773 C & gt;T single nucleotide polymorphism and protein oxidation markers in asthmatic patients
Conclusion SIRT-1 gene rs2273773 C>T SNP was associated with asthma but not with protein oxidation markers in Egyptian population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

The association between (8390G & gt;A) single nucleotide polymorphism in APOE gene with Alzheimer ’s and Parkinson disease
This study is to investigate the association of APOE polymorphism with AD and PD. In this case control study we examined association of an APOE gene polymorphism (rs121918398) with AD and PD in Iranian population. The study included 100 AD patients, 100 PD patients and 150 healthy volunteers. An informed consent was obtained from all participants. Genomic DNA was extracted from peripheral blood leukocyte. Genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) by Hha1 restriction enzyme. Sequencing of PCR products was carried out by Fazabiotech Company according to Sanger method using ABI 3730X...
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

PPAR- γ and CYP46A1 genes polymorphism is associated with Primary Open Angle Glaucoma (POAG) in hypertensive North Indians
Conclusions CYP46A1 (rs754203) gene polymorphism was associated with POAG in both hypertensive and normotensive patients whereas, only GG genotype of PPAR-γ (rs10865710) SNP shows significant association with POAG in hypertensive POAG patients. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research