Knockin Animal Models of Inherited Arrhythmogenic Diseases: What Have We Learned From Them? Mouse models are becoming an increasingly accepted method of studying human diseases. Knockin and knockout techniques have several advantages over traditio... KATHY,M,NILLES,... - 《Journal of Cardiovascular ...
is not always the only determining factor when it comes to inherited diseases. For example, in the case of some inherited disorders of the autosomal dominant type, not everyone who inherits a defective gene will develop the disease. There are also examples of inherited diseases where the defectiv...
Inherited eye diseases are the UK's leading cause of blindness in working-age people. Onset of disease may vary from very early childhood to adulthood, but deterioration is irreversible and has lifelong implications. To date, the development of treatments has largely focused on gene therapies. The...
11. Mitochondrial Diseases Mitochondrial DNA is inherited from the mother, and hence any diseases related to the mitochondria are also inherited from the mother. These diseases can be caused due to any mutation or defect in the mitochondrial DNA. These usually appear at birth and can affect almos...
What are inherited retinal diseases? Inherited retinal diseases (IRDs) are a group of rare blinding conditions caused by more than 270 different genes. Some people living with IRDs experience a gradual loss of vision, eventually leading to complete blindness. Others may be born with or experience...
1.Any of a group of diseases characterized by high blood sugar levels caused by insufficient production of insulin, impaired response to insulin, or both, especially: a.Type 1 diabetes. b.Type 2 diabetes. c.Gestational diabetes. In all subsenses also calleddiabetes mellitus. ...
Inherited metabolic diseases caused by enzymatic defects that compromise directly or indirectly the urea cycle activity are the main cause of hyperammonemia in the neonatal period. These diseases are mainly represented by the congenital defects of urea cycle, classical organic acidurias, and the defects...
What is inherited retinal dystrophy (IRD)? Retinal dystrophies are rare, inherited eye diseases resulting from an abnormality in a person’s genes. They cause progressive damage to the light-sensitive tissue at the back of the eye — theretina. Common symptoms include decreased visual acuity, co...
There are some inherited retinal diseases, such as gyrate atrophy, which is an autosomal recessive disease caused by mutations in the OAT gene. This encodes an enzyme that’s active in our mitochondria to help break down ornithine. If we identify these mutations and we also advise our patients...
Inherited thrombocytopenias (ITs) are rare, clinically and genetically heterogeneous diseases caused by mutations in more than 30 genes. Considering that t... A Savoia - John Wiley & Sons, Ltd 被引量: 0发表: 2017年 Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutati...