نتایج جستجو برای: allgrove syndrome
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Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene was used to identify AAAS gene mutations, to enhance the understanding of the pathogenesis and clinical ...
Actually, achalasia can be defined as a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal post-deglutitive lower esophageal sphincter (LES) relaxation. Its incidence varies from 0.03 to 1.63 cases per 100,000 people per year and increases with age, while the prevalence is almost 10/100,000 with no difference between the sexes. Regarding etiology, the most f...
Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...
As the sole site of nucleocytoplasmic transport, the nuclear pore complex (NPC) has a vital cellular role. Nonetheless, much remains to be learned about many fundamental aspects of NPC function. To further understand the structure and function of the mammalian NPC, we have completed a proteomic analysis to identify and classify all of its protein components. We used mass spectrometry to identif...
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