The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the c...

A growing body of evidence suggests that mutations in MTHFR gene are involved in cardiovascular diseases (CVD) cardiac development, atherosclerosis, myocardial infarction, heart failure, hypertension, aneurysmsand several other diseasecancers, neurological and metabolic disorders. Genetic variations in other genes are added risk for CVDa leading cause of morbidity and mortality around the globe...

The major objective of this study was to examine the association between Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms and the risk of various types of leukemias across the lifespans of children and adults by using the meta-predictive techniques. The secondary objective was to examine the interactions among epigenetic risk factors (including air pollution), MTHFR polymorphisms, and ...

يعد النشاط الاقتصادي عصب الحياة وأساس قيام الدول واستمرارها، فهو الموجه الرئيسي لها، ومن خلاله تقاس مكانتها ، ونظرا للدور المهم الذي لعبه هذا الجانب في نشأة وتطور موانئ المغرب الأوسط، جاءت هذه الدراسة الموسومة أثر العلاقات التجارية ازدهار لموانئ الأوسط خلال المدة (ق 5-7هـ/11-13م)، والتي تتضمن مبحثين تناول المبحث الأول منها مع بلدان العالم الاسلامي، إضافة الى الحديث عن أهم السلع والبضائع المتباد...

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...

Penelitian ini memfokuskan pada kemampuan Masayarakat Banyumas dalam mengucapkan huruf-huruf Bahasa Arab ketika mereka belajar alquran. Jenis penelitian yang digunakan adalah deskriptif kualitatif dengan model studi kasus. Objek dikaji huruf sedangkan subjek terdiri dari jamaah pengajian dan pengajar alquran di masjid tempat penelitian. Teknik pengumpulan data wawancara, observasi, dokumentasi....

Methylation is the primary route of metabolism of inorganic arsenic in humans, and previous studies showed that interindividual differences in arsenic methylation may have important impacts on susceptibility to arsenic-induced cancer. To date, the factors that regulate arsenic methylation in humans are mostly unknown. Urinary arsenic methylation patterns and genetic polymorphisms in methylenete...

BACKGROUND This work was planned to check for the association of polymorphisms related to methylenetetrahydrofolate reductase (MTHFR) and angiotensin converting enzyme (ACE) genes with overweight/obesity among Saudi subjects from Qassim region. METHODS This work included 130 subjects having overweight or obesity and 111 normal controls. Their age mean +/- SD was 27 +/- 9.8 and 24 +/- 8.8 year...