نتایج جستجو برای: familial dysautonomia
تعداد نتایج: 56514 فیلتر نتایج به سال:
The evolutionarily conserved Elongator complex, which is composed of six subunits elongator protein 1 (Elp1 to -6), plays vital roles in gene regulation. The molecular hallmark of familial dysautonomia (FD) is the splicing mutation of Elp1 [also known as IκB kinase complex-associated protein (IKAP)] in the nervous system that is believed to be the primary cause of the devastating symptoms of th...
Familial cardiac conduction disorder of a progressive nature has been reported in adult and paediatric patients. An underlying cardiomyopathy was found in most of these patients, either of hypertrophic, restrictive or dilated variety. Systemic diseases like juvenile rheumatoid arthritis and other collagen disorders and familial dysautonomia infrequently have associated conduction abnormalities....
Dysautonomia refers to a disease where the autonomic nervous system is dysfunctional. This may be a central control mechanism, as in genetically determined familial dysautonomia (Riley-Day Syndrome), or peripherally in the distribution of the sympathetic and parasympathetic systems. There are multiple reports of a number of different diseases associated with dysautonomia. The etiology of this a...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید