small supernumerary marker chromosomes (ssmc) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. on the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...

autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The effects and interaction between cAMP-analogue dibutyryl-cAMP and calmodulin antagonists were investigated on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle-RH7777 cells and normal rat hepatocytes. Dibutyryl cAMP caused a significant decrease in the secretion of de novo synthesized triacyl [3H] glycerol in both cultures of McArdle cells and rat hepatocytes. The ...

The effects of cAMP-analogue dibutyryl-cAMP and anticalmodulin W-7 were studied on de novo synthesis and secretion of lipids in cultures of hepatoma McArdle RH7777 cells and normal rat hepatocytes. Dibutyryl-cAMP and W -7 separately caused a significant decrease in the secretion of de novo synthesized triacyl [3H]glycerol in both cultures of McArdle cells and rat hepatocytes. The inhibito...

Histoid Leprosy (HL) is a rare variant of Lepromatous Leprosy, occurring in long-standing cases, mostly in a background of acquired drug resistance. Patients usually present with sudden onset multiple nodules and plaques, most often involving the skin and subcutaneous tissue of trunk and lower limbs. Here we report an unusual case of de novo (without any history of prior anti-leprotic therapy) ...

Objective(s): Oleate can be produced through de novo synthesis, which contributes to biological processes and signaling pathways. However, the role of this non-essential fatty acid in hepatic development remains unclear. The current study aimed to evaluate the influence of early oleate deficiency induced by the inhibitor of de novo oleate synthesis MF-438 on fetal rat ...

De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong pos...