INTRODUCTION Hereditary nonpolyposis colorectal cancer is a colorectal cancer syndrome characterized by the development of colorectal cancer and extracolonic tumors, and this syndrome has an autosomal dominant mode of inheritance. To our knowledge, our study was the first to find dento-osseous anomalies and the second to observe Fordyce granules in a family with individuals with hereditary nonp...

Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In present report, we describe family with 4 affected siblings presenting variable clinical manifestations, e.g., parkinsonian features, dystonia and slow progression over 5 years. Exome sequencing revealed causative ...

The science of medical genetics is progressing rapidly. The practical importance of this pro­gress should be considered by medical doctors. Both genetic and environmental factors are involved in the abnormail phenotypes considered diseases. The relative significance of the two factors varies from disease to disease. All di­seases can be viewed as falling on a spectrum in this regard. Hereditary...

For many hereditary disorders, although the underlying genetic mutation may be known, the molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation. Previous studies revealed an increased intracellular Ca2+ in red blood cells (RBCs) from patients with sickle cell disease, thalassemia, or Gardos channelopathy. Therefore we analyzed RBCs' Ca2+ content from 3...

Since the beginning of investigation in the horse genome in the early nineties, there has been a great progress, especially during the last five years. At the beginning the exploration of monogenic hereditary diseases was one of the main aims, and the causal mutations of several diseases in the horse have been unravelled. The inheritance of coat colours has been explored very detailed, and ther...

The expression or dysfunction of long non-coding RNAs (lncRNAs) is closely related to various hereditary diseases, autoimmune diseases, metabolic diseases and tumors. LncRNAs were also recently recognized as functional regulators of fibrosis, which is a secondary process in many of these diseases and a primary pathology in fibrosis diseases. We review the latest findings on lncRNAs in fibrosis ...