19 research outputs found
Genetic predisposition of cholesterol gallstone disease
Gallstone disease (GSD) is the result of the interaction between genetic and environmental factors and it is a major disease cause of surgery with high costs to health systems. Worldwide prevalence varies according to the ethnic population suggesting that high prevalence of GSD in certain ethnic groups is due to the presence of genetic factors implicated in different metabolic pathways. However, environmental factors play a determinant role in gene expression. This review summarizes the genes involved in biliary salt and cholesterol synthesis, lipids transport and the Lith genes. Future studies should be focused on the study of interactions between genetic and environmental factors which could be specific for each population
Acetaldehyde induces the nuclear to cytoplasmic translocation of Ski/Smad4 complexes and poteasomal degradation of Ski in human hepatic stellate cells
Acetaldehyde induces the nuclear to cytoplasmic translocation of Ski/Smad4 complexes and poteasomal degradation of Ski in human hepatic stellate cells
PI3 Kinase is involved in PDGF-{beta} receptor up-regulation post-PDGF-BB treatment in mouse hepatic Stellate cells
Proteasomal degradation of Ski is essential for acetaldehyde-dependent up-regulation of alpha 2(I) collagen mRNA in hepatic stellate cells
The role of dystroglycan in PDGF-BB-dependent migration of activated hepatic stellate cells/myofibroblasts
Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?
An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology
Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads
Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads: A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder
Autosomal dominant congenital macroglossia: Further delineation of the syndrome
We describe seven patients from two Mexican families with congenital macroglossia. Comparative analysis of these cases and the patients previously described in literature, allows to confirm the notion that this isolated primary macroglossia is a distinct dominant condition