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.

Identification of functional SNPs in human LGALS3 gene by in silico analyses
Conclusion Based on these analyses, the present study suggested that the reported functional SNPs may act as potential targets in genetic association studies. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 23, 2017 Category: Genetics & Stem Cells Source Type: research

Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population
Conclusion The present study revealed a higher incidence of certain diseases in consanguineous population with a high significant increase in the prevalence of common adult diseases such as diabetes mellitus, cancer, blood disorders, mental disorders, heart diseases, asthma, gastro-intestinal disorders, hypertension, hearing deficit, G6PD and common eye diseases. This confirms the role of genetic factors across the full spectrum of disease and not only for Mendelian disorders. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 20, 2017 Category: Genetics & Stem Cells Source Type: research

PAX5 α and PAX5β mRNA expression in breast Cancer: Relation to serum P53 and MMP2
Conclusions: The downregulation of PAX5α with upregulation of PAX5β RNA expressions could highlight the possible oncogenic role of PAX5 as a transcriptional factor in tumorigenesis and progression of breast cancer. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - February 9, 2017 Category: Genetics & Stem Cells Source Type: research

Molecular genetic analysis of Type II diabetes associated m.3243A & gt;G mitochondrial DNA mutation in a Pakistani family
This study was carried out in 6 suspected diabetic members of a Pakistani family. Mitochondrial DNA was extracted from saliva and after polymerase chain reaction, amplified DNA was subjected to direct sequencing. Results and conclusion Sequencing results revealed absence of most common mtDNA m.3243A>G mutation in 6 subjects with devotedly congenital mitochondrial diabetes phenotype. Conclusively, the m.3243A>G mutation in mitochondrial tRNALeu gene was not found to be a frequent cause of Type II diabetes mellitus in a Pakistani (haripur) family. Our finding suggests that there might be some underlying geneti...
Source: Egyptian Journal of Medical Human Genetics - January 17, 2017 Category: Genetics & Stem Cells Source Type: research

Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
Publication date: Available online 5 January 2017 Source:Egyptian Journal of Medical Human Genetics Author(s): Eliane Chouery, Sandra Corbani, Jaleleddine Dahmen, Leila Zouari, Moez Gribaa, Nadia Leban, Jemni Ben Chibani, Gérard Lefranc, Ali Saad, Amel Haj Khelil, Andoni Urtizberea, André Mégarbané Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis an...
Source: Egyptian Journal of Medical Human Genetics - January 4, 2017 Category: Genetics & Stem Cells Source Type: research

Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature
In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive. T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes of ketoacidosis during the first year of life. She unfortunately experienced neurodevelopmental complications, and died at 14months old, after her 5th episode. In contrast, patient 2, the elder brother, experienced only one ketoacidotic episode at the age of 4years. He recovered uneventfully and has continued to achieve age-appropriate development to date. Upon...
Source: Egyptian Journal of Medical Human Genetics - January 3, 2017 Category: Genetics & Stem Cells Source Type: research

Metabolic derangements in IUGR neonates detected at birth using UPLC-MS
Conclusion We conclude that IUGR neonates have unique metabolic derangements detectable by UPLC-MS at birth with similarities to derangements found in certain disorders. These babies should be closely followed up for early detection of the metabolic consequences of IUGR. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 29, 2016 Category: Genetics & Stem Cells Source Type: research

NUCB2/Nesfatin-1: A Potent Meal Regulatory Hormone and its Role in Diabetes
Conclusion Nesfatin-1 has gain attention as a new target to generate, drug for treatment of endocrine nutritional and metabolic disorders like obesity and type 2 diabetes mellitus. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 25, 2016 Category: Genetics & Stem Cells Source Type: research

Prevalence of food addiction and its relationship to body mass index
Conclusion FA exists in one sixth of Egyptian adolescents. FA symptoms rather than FA diagnosis differed in the different BMI categories. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 23, 2016 Category: Genetics & Stem Cells Source Type: research

Gene frequencies of ABO and Rh blood groups in Nigeria: A review
Conclusion The study provides information on the distribution/frequency of ABO/Rh(D) blood group and their corresponding allelic proportion in a large Nigeria study. It also revealed how the Nigerian populations in the North, South, West and East vary with respect to genetic traits. This vital information will be important for population genetics and anthropology studies and may be helpful in planning for future health strategy and blueprint, particularly planning with regards to disease management and blood transfusion medicine. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 5, 2016 Category: Genetics & Stem Cells Source Type: research

Vitamin D status, receptor gene BsmI (A/G) polymorphism and breast cancer in a group of Egyptian females
Conclusion A significant association exists between vitamin D deficiency and the risk of breast cancer. B allele or Bb genotype of VDR may be a susceptibility risk factor for BC development. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 5, 2016 Category: Genetics & Stem Cells Source Type: research

Contribution of coagulation factor VII R353Q polymorphism to the risk of thrombotic disorders development (venous and arterial): A case-control study
Conclusion FVII R353Q polymorphism did not contribute to an increased risk of thrombosis (arterial and venous); also carrying the Q allele (of R353Q) did not confer protection against acute thrombotic events. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - December 5, 2016 Category: Genetics & Stem Cells Source Type: research

Effect of ABCB1 (3435C & gt;T) and CYP3A5 (6986A & gt;G) genes polymorphism on tacrolimus concentrations and dosage requirements in liver transplant patients
Conclusions ABCB1 and CYP3A5 genetic polymorphism is one of the factors influencing TAC pharmacokinetics, screening for these SNPs prior to liver transplantation might be helpful for individualization of tacrolimus treatment. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - November 30, 2016 Category: Genetics & Stem Cells Source Type: research

Neurofibromatosis type 1 and multiple sclerosis: Genetically related diseases
Publication date: Available online 25 October 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Solaf M. Elsayed, Nagia Fahmy, Radwa Gamal, Mohamed Wafik, Dina Zamzam, Mai Fahmy, Mahmoud Suelam Neurofibromatosis type I (NF1) is an autosomal dominant disorder with involvement of both the cutaneous and nervous systems. Patients are susceptible to neurological complication in the form of tumors of the brain and spinal cord. Multiple sclerosis (MS) is a chronic autoimmune disease that affects the myelinated axons in the central nervous system. Unlike MS, none of the neurological complications of NF1 is...
Source: Egyptian Journal of Medical Human Genetics - October 25, 2016 Category: Genetics & Stem Cells Source Type: research

Clinical and genetic assessment of pediatric patients with Gaucher ’s disease in Upper Egypt
Conclusions Non-neuropathic type 1 and type 3 GD were the only clinical types found in the present study. The most common mutant alleles found in this study were L444P and N370S. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - September 23, 2016 Category: Genetics & Stem Cells Source Type: research