The fact that most proteins in the nuclear envelope would be specific for certain tissue types is a very exciting development. This may finally enable us to understand this ever-growing spectrum of inherited diseases as well as new aspects of tissue-specific gene regulation." The findings build ...
GENETIC disordersRETINAL degeneration treatmentDISEASE risk factorsInheritedcornealdiseasescompriseagroupofclinicallyandgeneticallyheterogeneousdisordersthatcanleadtobilateralseverelyimpairedvisionand/orblindnessAdvancesinnextgenerationsequencing(NGS)technologieshaverevolutionisedclinicalgeneticsoverthepastfiveyearsTheapplicationofNGS...
Each inherited metabolic disorder is quite rare in the general population. Considered all together, inherited metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In certain ethnic populations, such as Ashkenazi Jews (Jews of central and eastern European ancestry), the rate of inhe...
B. Are mutations always inherited? What causes a mutation in DNA? How do genetic mutations occur? What causes genetic mutations in populations? How would a genetic mutation affect our evolution? why are heriditary diseases unavoidable, due to genetic mutations? Diseases are caus...
Muscular dystrophy(MD) is a group of inherited diseases in which the muscles that control movement (called voluntary muscles) progressively weaken. In some forms of this disease, the heart and other organs are also affected. There are nine major forms of muscular dystrophy: ...
Huntington's disease: This inherited disease causes the wasting of certain types of brain cells that control movement as well as thinking. Dementia is common and occurs in the late stages of the disease. Personality changes are typical. Reasoning, memory, speech, and judgment may also be affecte...
There is no specific test for epilepsy, and it is only diagnosed when all other causes of seizures have been ruled out. For this reason, it is also called idiopathic epilepsy because the actual cause is unknown. However, scientists believe that there is an inherited disorder that causes a ch...
In addition to an increasingly westernised diet, the traditional Chinese diet also plays a part, with the quantity and quality of rice intake linked to the risk of type 2 diabetes. Familial factors including inherited genetic variants are important, although differences in the genetic architecture ...
Other chronic diseases High cholesterol Diabetes Hypertension (high blood pressure) Genetic disorders Some inherited liver disorders only happen if they run in your family. Hemochromatosismakes your body store up too much of the iron from your food. The extra iron builds up in your liver, heart,...
Jodie N. Painter and Hanna Tapanainen and Mirja Somer and Pentti Tukiainen and Kristiina Aittomäki - 《American Journal of Human Genetics》 被引量: 170发表: 2005年 A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax. Primary spontaneous pneum...